February 7, 2017

The metabolic syndrome is a cluster of the most dangerous heart attack risk factors: diabetes and raised fasting plasma glucose, abdominal obesity, high cholesterol and high blood pressure. When a patient presents with these risk factors together, the chances for future cardiovascular problems are greater than any one factor presenting alone.

The term “metabolic” refers to the biochemical processes involved in the body’s normal functioning. Risk factors are traits, conditions, or habits that increase the chance of developing a disease.

Metabolic syndrome is a serious health condition that affects about 34 percent of adults and places them at higher risk of cardiovascular disease, diabetes, stroke and diseases related to fatty buildups in artery walls. The underlying causes of metabolic syndrome include overweight and obesity, physical inactivity and genetic factors.

The condition is also known by other names including Syndrome X, insulin resistance syndrome, and dysmetabolic syndrome. According to a national health survey, more than one in five Americans has metabolic syndrome. The number of people with metabolic syndrome increases with age, affecting more than 40 percent of people in their 60s and 70s.


Metabolic syndrome has several causes that act together. A person can control some of the causes, such as overweight and obesity, an inactive lifestyle, and insulin resistance.

People can’t control other factors that may play a role in causing metabolic syndrome, such as growing older. The risk for metabolic syndrome increases with age.

People also can’t control genetics (ethnicity and family history), which may play a role in causing the condition. For example, genetics can increase the risk for insulin resistance, which can lead to metabolic syndrome.

People who have metabolic syndrome often have two other conditions: excessive blood clotting and constant, low-grade inflammation throughout the body. Researchers don’t know whether these conditions cause metabolic syndrome or worsen it.

Researchers continue to study conditions that may play a role in metabolic syndrome, such as –

  • A fatty liver (excess triglycerides and other fats in the liver)
  • Polycystic ovarian syndrome (a tendency to develop cysts on the ovaries)
  • Gallstones
  • Breathing problems during sleep (such as sleep apnea)

Risk Factors

The following factors increase the chances of having metabolic syndrome –

  • Age – The risk of metabolic syndrome increases with age, affecting 40 percent of people over the age of 60.
  • Race – Hispanics and Asians seem to be at greater risk of metabolic syndrome than are people of other races.
  • Obesity – Carrying too much weight increases the risk of metabolic syndrome
  • Diabetes – People are more likely to have metabolic syndrome if they had diabetes during pregnancy (gestational diabetes) or if they have a family history of type 2 diabetes.
  • Other diseases – The risk of metabolic syndrome is higher if people have ever had cardiovascular disease, nonalcoholic fatty liver disease or polycystic ovary syndrome.


Clinical manifestations of metabolic syndrome include the following –

  • Hypertension
  • Hyperglycemia
  • Hypertriglyceridemia
  • Reduced high-density lipoprotein cholesterol (HDL-C)
  • Abdominal obesity
  • Chest pains or shortness of breath: Suggesting the rise of cardiovascular and other complications
  • Acanthosis nigricans, hirsutism, peripheral neuropathy, and retinopathy: In patients with insulin resistance and hyperglycemia or with diabetes mellitus
  • Xanthomas or xanthelasmas: In patients with severe dyslipidemia


  • Arteriosclerosis – This happens when cholesterol hardens and begins to build up in the walls of arteries, causing blockages that can lead to high blood pressure, heart attack, and stroke.
  • Poor kidney function – The kidneys become less able to filter toxins out of the blood, which can also increase the risk of high blood pressure, heart attack, or stroke.
  • Insulin resistance – This occurs when the body’s cells don’t respond to insulin (the hormone that helps to regulate sugar in the blood) normally, and that can lead to high blood sugar levels and diabetes.
  • Polycystic ovarian syndrome – Thought to be related to insulin resistance, this disorder involves the release of extra male hormones by the ovaries, which can lead to abnormal menstrual bleeding, excessive hair growth, acne, and fertility problems. It is also associated with an increased risk for obesity, hypertension, and — in the long-term — diabetes, heart disease, and cancer.
  • Acanthosis nigricans – A skin disorder that causes thick, dark, velvet-like patches of skin around the neck, armpits, groin, between the fingers and toes, or on the elbows and knees.


Lose weight – Moderate weight loss, in the range of 5 percent to 10 percent of body weight, can help restore your body’s ability to recognize insulin and greatly reduce the chance that the syndrome will evolve into a more serious illness. This can be done via diet, exercise, or even with help from certain weight-loss medications if recommended by your doctor.

Exercise – Increased activity alone can improve your insulin levels. Aerobic exercise such as a brisk 30-minute daily walk can result in a weight loss, improved blood pressure, improved cholesterol levels and a reduced risk of developing diabetes. Most health care providers recommend 150 minutes of aerobic exercise each week. Exercise may reduce the risk for heart disease even without accompanying weight loss.

Consider dietary changes – Maintain a diet that keeps carbohydrates to no more than 50 percent of total calories. Eat foods defined as complex carbohydrates, such as whole grain bread (instead of white), brown rice (instead of white), and sugars that are unrefined (instead of refined; for example cookies, crackers).

Alternative Treatment


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February 7, 2017

Metabolic disorders are any of the diseases or disorders that disrupt normal metabolism – the process of converting food to energy on a cellular level. Thousands of enzymes participating in numerous interdependent metabolic pathways carry out this process. Metabolic diseases affect the ability of the cell to perform critical biochemical reactions that involve the processing or transport of proteins (amino acids), carbohydrates (sugars and starches), or lipids (fatty acids).

Disorders in metabolism can be inherited, in which case they are also known as inborn errors of metabolism, or they may be acquired during your lifetime. Many metabolic disorders exist, and they are common in the United States. For, instance, diabetes is metabolic disease that affects approximately 26 million Americans. The onset of symptoms usually occurs when the body’s metabolism comes under stress—for example, after prolonged fasting or during a febrile illness. For some metabolic disorders, it is possible to obtain prenatal diagnostic screening.

Metabolic disorder is quite common. Approximately 32% of the population in the U.S. has metabolic disorder. Around 25% of adults in Europe and Latin America are estimated to have the condition, and rates are rising in developing East Asian countries. Within the US, Mexican Americans have the highest prevalence of metabolic disorder. The prevalence of metabolic disorder increases with age, and about 40% of people over 60 are affected.

Risk Factors

A number of factors increase the risk of developing metabolic disorders. Not all people with risk factors will get metabolic disorders. Risk factors for metabolic disorders include –

  • Certain chronic medical conditions, such as lung or kidney disease (includes any type of kidney problem, such as kidney stones, kidney failure and kidney anomalies)
  • Family history of genetic metabolic disorder

Types of Metabolic Disorders

Some types of Metabolic Disorders are –

  • Adrenoleukodystrophy (ALD) – This is a rare but fatal genetic disorder in which patients accumulate high levels of saturated, very-long-chain fatty acids in the brain and adrenal cortex, which develop because they cannot produce an enzyme that breaks down fatty acids. This leads to a breakdown of the myelin sheath, the membrane that protects the brain and spinal cord. This conditions also causes the adrenal glands to secrete cortisol, which regulates glucose metabolism, blood pressure and the release of insulin for blood pressure maintenance.
  • Alkaptonuria – Also called onchorosis, this is a rare metabolic disorder characterized by arthritis in adulthood and dark brown or black urine, which occurs when a patient cannot break down tyrosine, a type of amino acid, due to a defect in an enzyme that causes something called homogenistic acid to be released in the urine. Homogenistic acid turns brown when exposed to air. This condition is not life threatening, although lifelong treatment to manage systems is often required.
  • Cystinosis – This metabolic disorder is characterized by an abnormal accumulation of the amino acid cystine in the body, causing cystine to build up in the kidneys, eyes, muscles, pancreas and brain, eventually leading to tissue and organ damage.
  • DIDMOAD (Wolfram) syndrome – DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) syndrome is an inherited neurodegenerative disease that takes place when the protein wolframin does not function properly, causing an inability to concentrate urine (diabetes insipidus), and inability to produce or properly use insulin (diabetes mellitus), blindness or deafness. Patients can also suffer from serious nervous system problems.
  • Glucose 6-phosphate-dehydrogenese deficiency – G6PD deficiency is an inherited enzyme deficiency in which patients has low levels of G6PD in their blood cells, causing the cells to die prematurely when the patient has an infection or is exposed to chemicals in food or medications.
  • Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) – HHH is a rare disorder in which patients suffer from poor coordination and learning disabilities due to a buildup of an amino acid called ornithine that prevents the removal of nitrogen waste from the body.
  • Inborn errors of urea synthesis – This metabolic disorder occurs when a series of enzyme reactions that remove nitrogen waste from the blood, called the urea cycle, is disrupted, leading to increased levels of ammonia in the blood and a condition called hyperammonemia, which leads to mental retardation, coma and death.
  • Kearns-Sayre syndrome – This is a rare neuromuscular disorder that occurs when there are mutated mitochondria inside a patient’s cells. This condition mostly affects the eyes.
  • Maple syrup urine disease (MSUD) – This metabolic disorder is caused by a deficiency of an enzyme needed to break down amino acids; these amino acids can build up to toxic levels in the body, and MSUD can cause brain and progressive nervous system damage.
  • McArdle’s disease – Also called glycogen storage disease, this is a rare muscular disease in which patients are unable to produce a protein called phosphorylase needed to produce the energy skeletal muscles require to exercise.
  • MELAS syndrome – MELAS (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes) syndrome is a very form of dementia, which is fatal and has no cure.
  • Metabolic syndrome – Also called syndrome X, this condition is characterized by a patient having two or more of a group of conditions such as high blood pressure, high insulin levels, excess waist fat and high cholesterol. Patients with this condition are more likely to develop stroke, heart disease and diabetes.
  • Phenylketonuria (PKU) – Also called Folling’s disease, this potentially fatal condition occurs when patients do not have an enzyme needed to produce a protein called phenylalanine. People with this condition must follow a strict diet that does not contain phenylalanine, which means avoiding high-protein foods such as meat, cheese, milk or nuts.
  • Pyruvate carboxylase deficiency (hyperalaninemia) – Patients with this condition are born with low levels of the enzyme pyruvate carboxylase, which is needed to break down alkaline in the blood.
  • Subacute necrotizing encephalopathy – Also called Leigh’s disease, this fatal condition is caused by a missing enzyme called dehydrogenase, and is characterized by a degeneration of the brain and spin cord.
  • Tay-Sachs disease (TSD) – This condition progressively destroys the brain and nervous system, leading to blindness, paralysis and death. Symptoms of the most common type of TSD usually form when the baby is six months old, and patients typically die within a few years.
  • Trimethylaminuria – Patients with this condition excessively produce a protein called trimethylamine, given them offensive body odor that smells like rotting fish.


Metabolic disorders develop when normal metabolic processes are disturbed. Normally, food is broken down by the body into simpler components (proteins, fats and sugars) in a highly regulated manner. Metabolic disorders are defined by a breakdown in any one of the steps of this complex process. Disorders in metabolism can be inherited, in which case they are known as inborn errors of metabolism, or they may be acquired. They may also occur as complications of other serious diseases, such as liver or respiratory failure, cancer, end-stage chronic obstructive pulmonary disease (COPD, includes emphysema and chronic bronchitis), and HIV/AIDS.

Genetic Factor – There are numerous examples of inherited metabolic disorders, which can be classified based on the type of food-related building block that they affect, including amino acids (the building block for proteins), carbohydrates, and fatty acids (the building block for fats). Inherited causes of metabolic disorders include:

  • Amino acid disorders; examples include Tay-Sachs disease, phenylketonuria, tyrosinemia, maple syrup urine disease, and homocystinuria
  • Carbohydrate disorders; examples include diabetes insipidus, hereditary fructose intolerance, galactosemia, pyruvate metabolism disorders, von Gierke’s disease, McArdle disease, Pompe’s disease, and Forbes’ disease
  • Fatty acid oxidation defects; examples include Gaucher’s disease, Niemann-Pick disease, Fabry’s disease, and medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency

Other Factors – Metabolic disorders can be due to other factors, such as a combination of inherited and environmental factors. Other examples of conditions that can cause metabolic disorders include –

  • Alcohol abuse
  • Diabetes (chronic disease that affects your body’s ability to use sugar for energy)
  • Diuretic abuse
  • Gout (type of arthritis caused by a buildup of uric acid in the joints)
  • Ingestion of poison or toxins, including excessive aspirin, bicarbonate, alkali, ethylene glycol, or methanol
  • Kidney failure
  • Pneumonia, respiratory failure, or collapsed lung
  • Sepsis (life-threatening bacterial blood infection)


The symptoms of metabolic disorders vary widely depending on the metabolism problem present. Some symptoms of metabolic disorders include –

  • Lethargy
  • Poor appetite
  • Abdominal pain
  • Vomiting
  • Weight loss
  • Jaundice
  • Failure to gain weight or grow
  • Developmental delay
  • Seizures
  • Coma
  • Abnormal odor of urine, breath, sweat, or saliva

The symptoms may come on suddenly or progress slowly. Symptoms may be brought on by foods, medications, dehydration, minor illnesses, or other factors. Symptoms appear within a few weeks after birth in many conditions. Other inherited metabolic disorders may take years for symptoms to develop.

Metabolic disorders can present with a great diversity of signs and symptoms that mimic non-genetic disorders. Common presenting symptoms are –

  • Acute neonatal symptoms (described below)
  • Failure to thrive
  • CNS symptoms such as developmental delay, movement or psychiatric disorder or cerebral palsy
  • Sudden infant death syndrome (SIDS)
  • Episodic illness – anorexia, vomiting, lethargy, coma
  • Cardiomyopathy
  • Muscular – hypotonic, weakness, cramps
  • Gastrointestinal – anorexia, vomiting, diarrhoea, malabsorption
  • Liver disease
  • Ophthalmic abnormalities
  • Reye’s syndrome-like illness
  • Dysmorphic features
  • Metabolic – acidosis, hypoglycaemia


Treatment for metabolic disorders begins with seeking medical care from your health care provider. The treatment approach for metabolic disorders depends on the specific disorder. Inborn errors of metabolism ( metabolic disorders) are often treated with nutritional counseling and support, periodic assessment, physical therapy, and other supportive care options. Acquired metabolic disorder treatment will include normalizing the metabolic balance by both reversing the cause and administering medications.

Treatment options for metabolic disorders – Multiple treatment options are available for inherited metabolic disorders. Examples include –

  • Bone marrow transplantation
  • Enzyme replacement therapy in selected patients
  • Gene therapy in selected patients
  • Medications to reduce symptoms, such as pain or low blood sugar
  • Mineral supplementation
  • Nutritional counseling
  • Physical therapy
  • Surgery to relieve pain or symptoms
  • Vitamin supplementation

Alternative Treatment

Chromium – Improves glucose tolerance and balances blood‐sugar levels.

Magnesium – Plays an important role in both the prevention and treatment of Metabolic Disorder and diabetes. It benefits these conditions by increasing the number and sensitivity of insulin receptors.

Gymnema sylvestre – An herb native to the tropical forests of southern and central India, it lowers blood sugar levels.

Alpha lipoic acid – Some researchers credit alpha‐lipoic acid with being the principal supplement for preventing and reversing Metabolic Disorder. The supplement earned this reputation by increasing the burning of glucose. The body needs alpha‐lipoic acid to produce energy; it plays a crucial role in the energy‐ producing structures in cells (mitochondria). The body actually makes enough alpha‐ lipoic acid for this basic function.

Vanadyl sulfate  – Vanadyl Sulfate is the most popular and common form of vanadium, an element in the body that is found in foods such as pepper, dill, radishes, eggs, vegetable oils, buckwheat, and oats.

Highpotency multivitamin/mineral supplement – This will supply many of the nutrients involved with blood sugar metabolism.

Biotin – Biotin is involved with proper glucose metabolism.

Essential Fatty Acids  – EFAs – especially omega‐3s – are vital to health and proper insulin function. Flaxseed or fish oil, combined with evening primrose oil is a good idea.


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February 7, 2017

Membranous nephropathy is a kidney disorder that leads to changes and inflammation of the structures inside the kidney that help filter wastes and fluids. The inflammation may lead to problems with kidney function. It is also known as Membranous glomerulonephritis.

It occurs when a thin layer in the filtering unit of the kidneys (the glomerulus) becomes inflamed and then appears thickened. This inflammation causes the kidneys to leak protein which can lead to nephritic syndrome which causes the body to retain excess fluid. The fluid appears as swelling which usually starts in the ankles and feet. Membranous nephropathy leads to long term kidney damage.


About two thirds of membranous nephropathy is what is called ‘idiopathic’. This means that no cause can be identified. However the remaining one third of cases are associated with other conditions, usually diseases which are caused by a disturbance of the immune system. The problem is caused by an autoimmune attack on the cell within the glomerulus that make the glomerular basement membrane, known as podocytes. “Autoimmune” means that the damage is caused by the body’s own immune system.

The thicker glomerular membrane does not work normally. Large amounts of protein are lost in the urine as a result. This condition is one of the most common causes of nephrotic syndrome. It may be a primary kidney disease, or it may be associated with other conditions.

Risk Factors

Factors that can increase your risk of membranous nephropathy include –

  • Having a medical condition that can damage the kidneys – Certain diseases and conditions increase the risk of developing membranous nephropathy, such as lupus and other autoimmune diseases.
  • Use of certain medications – Examples of medications that can cause membranous nephropathy include nonsteroidal anti-inflammatory drugs and gold salts.
  • Exposure to certain infections – Examples of infections that increase the risk of membranous nephropathy include hepatitis B, hepatitis C and syphilis.
  • Genetic background – Certain genetic factors make it more likely that people will develop membranous nephropathy.
  • Toxins – Exposure to toxins, including gold and mercury


The symptoms of MGN are different for each person. Patients may have no symptoms at all. If symptoms develop, they typically include the following –

  • swelling (edema) in the hands, feet, or face
  • fatigue
  • foamy urine
  • excessive need to urinate at night
  • weight gain
  • poor appetite

MGN causes damage to the kidney, and that results in protein being filtered from the blood and into the urine. Because protein is needed by the body, a lack of protein leads to water retention and swelling. All these symptoms are associated and known as nephrotic syndrome.


Complications associated with membranous nephropathy include –

  • High cholesterol – Levels of cholesterol and triglycerides are often high in people with membranous nephropathy, which greatly increases the risk of heart disease.
  • Blood clots – With proteinuria, some may lose proteins that help prevent clotting from the blood into the urine. This makes the person more prone to having blood clots develop in deep veins or blood clots that travel to the lungs.
  • High blood pressure – Waste buildup in your blood (uremia) and salt retention can raise blood pressure.
  • Infections – Patients are more susceptible to infections when proteinuria causes them to lose immune system proteins (antibodies) that protect people from infection.
  • Nephrotic syndrome – High protein levels in the urine, low protein levels in the blood, high blood cholesterol, and swelling (edema) of the eyelids, feet and abdomen can lead to nephrotic syndrome — a cluster of signs and symptoms that affect the kidneys’ filtering ability.
  • Acute kidney failure – In cases of severe damage to the kidneys’ filtering units (glomeruli), waste products may build up quickly in the blood. Patient may need emergency dialysis to remove extra fluids and waste from the blood.
  • Chronic kidney disease – The kidneys may gradually lose function over time to the point where affected person may need dialysis or a kidney transplant.


The goal of treatment is to reduce symptoms and slow the progression of the disease.

Controlling blood pressure is the most important way to delay kidney damage. The goal is to keep blood pressure at or below 130/80 mmHg. Angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) are the medicines most often used to lower blood pressure.

Corticosteroids and other drugs that suppress the immune system may be used.

High blood cholesterol and triglyceride levels should be treated to reduce the risk of atherosclerosis. However, a low-fat, low-cholesterol diet is usually not as helpful for people with membranous nephropathy. Medications to reduce cholesterol and triglyceride levels (most often statins) may be recommended.

A low-salt diet may help with swelling in the hands and legs. Water pills or diuretics may also help with this problem.

Low-protein diets may be helpful. A moderate-protein diet (1 gram of protein per kilogram of body weight per day) may be suggested.

This disease increases the risk for blood clots in the lungs and legs. Patients are occasionally prescribed blood thinners to prevent these complications.

Screening for age-appropriate malignancies is warranted, if not already done.

Alternative Treatment

Zinc – An essential trace element, zinc is a metal that is necessary for human health. Its immune boosting capabilities treat the bacteria that is often associated with membranous glomerulonephritis. In turn, the amount of protein in the body is also reduced.

Magnesium – A key mineral in the human metabolism, magnesium is also an effective treatment option for MGN. Magnesium functions in a number of ways to treat the condition including reducing inflammation, attacking the bacteria in the kidney, balancing immune function and eliminating protein in the kidney.

Vitamin D supplementation may be required for patients with chronic membranous nephritis that is not responsive to treatment. Vitamin D is converted to its active form, 1,25-dihydroxyvitamin D, in the kidney. In chronic kidney disease, the ability of the kidney to synthesize this vitamin is reduced, therefore supplementation is sometimes warranted.










February 7, 2017

Mediterranean anemia, also known as Thalassaemia or Cooley’s anemia, is a group of inherited blood disorders that affect the body’s ability to produce hemoglobin and red blood cells – patients have a lower-than-normal number of red blood cells in their bodies and too little hemoglobin. In many cases the red blood cells are too small.

Those afflicted have less hemoglobin and fewer red blood cells than normal. Hemoglobin is a protein that allows red blood cells to carry oxygen throughout the body and to carry carbon dioxide to the lungs to be exhaled. When the body does not have enough oxygen supplied to its organs and tissues, it causes fatigue.

The most common symptoms of Mediterranean anemia are fatigue and weakness due to the lack of oxygen being distributed throughout the body. Sufferers of the disorder may also experience shortness of breath, unusual paleness, or a yellowing of the skin called jaundice. Symptoms range from mild to severe, and can be present as early as birth. Some patients do not experience any symptoms at all, while others may not show signs of the disorder until later in life.

Mediterranean anemia patients can get an overabundance of iron in their bloodstreams from the disease or frequent blood transfusions. Infections are also common due to blood transfusions and can be serious, as with hepatitis. Severe cases can cause bone deformities, enlarged spleen, slowed growth rates, and heart problems, including congestive heart failure and abnormal heart rhythms.

It is estimated that approximately two million persons living in the United States may be carriers of the gene that causes thalassemia.


Mediterranian Anemia is caused by flawed or missing genes. There are several types:

Beta thalassemia major – A person with this type of thalassemia has inherited 2 defective genes. This is the most severe type of beta thalassemia. People affected will need frequent blood transfusions and may not live a normal lifespan. During the first year or two of life, affected babies can be pale, fussy, and have a poor appetite. They may also have many infections. Other symptoms are slowed growth, abdominal swelling, and yellowing of the skin (jaundice). Without treatment, the spleen, liver, and heart become enlarged. Bones can also become thin, brittle, and deformed. Iron builds up in the heart and other organs from blood transfusions. This can cause heart failure as early as the teens or early 20s.

Beta thalassemia minor or thalassemia trait – Only one gene is defective. This causes less severe anemia. It is further divided into –

  • Thalassemia minima – A person has few or no symptoms.
  • Thalassemia intermedia – A person has moderate to severe anemia.

People with thalassemia minor have a 50% chance of passing the gene to their children. If the other parent is not affected, their children would then also have thalassemia minor.

Many people are given iron replacement under the mistaken belief that their anemia is the iron-deficient type. Since too much iron can be harmful, it is important to get the right diagnosis. People may need to see a specialist in blood disorders called a hematologist.

Risk Factors

Factors that increase the risk of Mediterranean Anemia include –

  • Family history of thalassemia – Thalassemia is passed from parents to children through mutated hemoglobin genes. If a person has a family history of thalassemia, he may have an increased risk of the condition.
  • Certain ancestry – Thalassemia occurs most often in people of Italian, Greek, Middle Eastern, Asian and African ancestry.


The majority of infants with Mediterranean Anemia will not have symptoms until they reach six months, because they start off with a different type of hemoglobin called fetal hemoglobin. After the age of six months “normal” hemoglobin starts replacing the fetal one.

  • Jaundice
  • Fatigue
  • Pale skin
  • Cold hands and feet
  • Shortness of breath
  • Poor feeding
  • Delayed growth
  • Skeletal deformities – in some cases as the body tries to produce more bone marrow
  • Too much iron – the body will try to absorb more iron to compensate. Iron may also accumulate from blood transfusions. Excessive iron can harm the spleen,heart and liver
  • Greater susceptibility to infections
  • Delayed puberty


Untreated, thalassemia major leads to heart failure and liver problems. It also makes a person more likely to develop infections.

Blood transfusions can help control some symptoms, but carry a risk of side effects from too much iron.


Blood transfusions – This is done to replenish hemoglobin and red blood cell levels. Patients with moderate to severe thalassemia will have repeat transfusions every 4 months, while those with more severe disease may require transfusions every two to four weeks. Patients with mild symptoms may require occasional transfusions when they are ill or have an infection.

Iron chelation – Involves removing excess iron from the bloodstream. Sometimes blood transfusions can cause iron overload. Iron overload is bad for the heart and some other organs. Patients may be prescribed subcutaneous (injected under the skin) deferoxamine or oral (taken by mouth) deferasirox.

Folic acid supplements may be prescribed for patients who are administered blood transfusions and chelation.

Bone marrow transplant – Also called a stem cell transplant. Bone marrow is a spongy tissue that exists in the hollow centers of large bones. Bone marrow cells produce red and white blood cells, hemoglobin and platelets.

Surgery – Some patients with bone abnormalities may require surgery.

Alternative Treatment

Antineoplastons – Antineoplastons are a group of naturally occurring peptide fractions that have been studied for the treatment of various cancers, though antineoplaston therapy is not approved by the U.S. Food and Drug Administration (FDA). In recent years, antineoplastons have also been suggested as treatment for other conditions such as sickle cell anemia and thalassemia, but there is a lack of sufficient evidence from high-quality studies to support the use of antineoplastons for these indications.

Chelation – One of the original uses of chelation therapy with calcium disodium EDTA was the treatment of heavy metal poisoning. Chelation remains an accepted therapy in medical institutions for lead toxicity, and several studies report lower levels of lead in the blood and slower progression of kidney failure. Chelation therapy may also be used when toxic levels of iron, arsenic, or mercury are present. Patients with thalassemia that require frequent blood transfusions often have elevated iron levels and possible iron toxicity.

Zinc – Limited human study has noted that children with beta-thalassemia who took oral zinc supplements for one to seven years increased in height more than those who did not take zinc. More research is needed to confirm these findings. Zinc is generally regarded as safe and well-tolerated when taken at recommended doses.

Wheatgrass – Evidence suggests that wheatgrass may be beneficial for patients with beta thalassemia. Its use may decrease the number of blood transfusions needed. However, further research is needed before a firm conclusion can be drawn. Wheatgrass is generally considered safe.

Arginine (L-arginine), chelation (EDTA) therapy, taurine, and vitamin E for improving health.


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February 7, 2017

Lynch syndrome (LS) is a condition that can run in families. It is also known as hereditary non-polyposis colorectal cancer (HNPCC). LS doesn’t cause any symptoms itself. But people with LS have an increased risk of developing bowel cancer, cancer of the womb and some other cancers. If the family has a history of developing these cancers at a young age (under 50), it is possible that people have the altered gene that causes LS.

It is estimated that around 1 in 440 Americans possess a gene mutation associated with Lynch syndrome. The condition is most commonly associated with greater risk of colorectal cancer, accounting for around 3-5% of all cases. Women with Lynch syndrome, however, are also at 40-60% greater risk of endometrial cancer – a cancer that begins in the lining of the uterus, called the endometrium.

Some people with Lynch syndrome may also develop sebaceous adenomas, which are noncancerous tumors of an oil-producing gland in the skin.

Lynch syndrome is caused by a change in a gene that normally functions to protect a person from getting cancer. If you have a parent or sibling with Lynch syndrome, you are potentially at risk of developing Lynch syndrome. If you have been diagnosed with Lynch syndrome, your children are at risk. When a parent carries a change known as a mutation, in one of the Lynch syndrome genes, they have one working and one non-working copy of the gene. Each child will have a 50% chance of inheriting the gene mutation.

Not everyone with Lynch syndrome will develop bowel cancer. A person who inherits a Lynch syndrome mutation has around 30-50% chance of developing cancer (risks vary depending upon which gene is affected) unless preventative measures are taken. Developing bowel cancer at a young age is not uncommon.


Lynch Syndrome is caused by an abnormality in one of four mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). These are the genes responsible for correcting mistakes that occur in genes when body cells divide.   More recently an error in a gene called EPCAM has been identified and this also stops the MSH2 gene working properly meaning it can’t fix up those “spelling” mistakes.

Nearly every cell in our bodies contains two copies of each gene and genes are the “instruction manuals” for building and running the body. DNA is the genetic material within each cell that contains instructions for every chemical process in the cells of the body. As cells grow and divide they make copies of their DNA and it is common for minor mistakes to occur.   Normally the mismatch repair genes recognize these mistakes and repair them, similar to the “spell check” function on your computer. However, people who inherit a fault in one of the four mismatch repair genes lack the ability to repair these minor mistakes. An accumulation of these mistakes may eventually lead to the development of a cancer.    


Men and women can inherit a gene mutation associated with Lynch syndrome from either their mother or father. People with one of these mutations can also pass it on to their children. If one parent has the mutation in 1 of the 2 copies of a Lynch syndrome gene, a child has a 50% chance of inheriting the gene mutation. This also means there is a 50% chance that a child will not inherit the gene mutation.

Healthcare professionals use certain criteria to determine if a Lynch syndrome gene mutation may be present in a family. These are referred to as the Amsterdam criteria.

  • At least 3 family members have colorectal cancer or another cancer related to Lynch syndrome. At least 1 of these family members is a first-degree relative (parent, sibling or child) of the other 2 family members.
  • At least 1 family member was diagnosed with cancer before age 50.
  • Cancer occurs in at least 2 generations in a row.
  • FAP has been ruled out.


People with Lynch syndrome may have –

  • Colon cancer that occurs at a young age, especially before age 45
  • A family history of colon cancer that occurs at a young age
  • A family history of endometrial cancer
  • A family history of other related cancers, including ovarian cancer, kidney cancer, stomach cancer, small bowel cancer, liver cancer or other cancers

Those with Lynch syndrome have a 70 percent chance of developing colon cancer by age 70. Colon cancer patients with Lynch syndrome have an estimated 40 percent risk of developing a second primary colon cancer within seven years of being diagnosed after the first tumor. Women with Lynch syndrome have a 40 percent to 60 percent estimated lifetime risk of developing endometrial cancer.

Lynch syndrome may also increase a person’s risk for cancers of the stomach, ovary, urinary tract, hepatobiliary tract, brain, small intestine, skin and pancreas.


Surgery is recommended to remove the colon (subtotal colectomy) if colon cancer is detected in someone with a known diagnosis of Lynch syndrome due to the high risk for second primary colon cancers. Surgery to remove the uterus and ovaries before cancer develops (prophylactic) is a consideration for women who have Lynch syndrome and have completed childbearing. Individuals with Lynch syndrome should be monitored every one or two years with examinations of the colon (colonoscopy) beginning at age 20-25 or 2 to 5 years before the youngest age that a family member was diagnosed, whichever is earlier. Prophylactic removal of the colon is not usually recommended because colonoscopy is usually effective in detecting colon cancer at an early stage or at preventing colon cancer entirely.

Genetic counseling is recommended for affected individuals and their family members. Other treatment is symptomatic and supportive.

Alternative Treatment

Calcium & Vitamin D – There is evidence that higher calcium and vitamin D intake lowers the risk of developing colon cancer.

Folic Acid – In observational studies, low folate has been linked to increased risk of colon cancer. However, some data suggest that high intake of folate may have a paradoxical effect, raising the risk of developing colorectal cancer in some individuals.

Selenium – In several studies, selenium status was lower in those with adenomas and colon cancer versus controls. One study of selenium-deficient patients with a history of adenomas showed that repletion of selenium corrected both selenium status and activity of glutathione peroxidase in the colonic mucosa.

Curcumin, the collective term for the 3 curcuminoids that give Turmeric (Curcuma longa) its distinct yellow color, may be the most well-characterized chemopreventative agent from any spice. Spices are collectively composed of a myriad of chemopreventative phytochemicals, including phenolics, terpenoids, and flavonoids

Omega-3 fatty acids – Omega 3 fatty acids eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) have potent anti-inflammatory effects. There is also evidence for direct protective effects regarding proliferation, apoptosis, angiogenesis, and metastasis in colon cancer cells.

Garlic (Allium sativum) – The anticarcinogenic effects of garlic are thought to be derived primarily from organosulfur compounds, including the odiferous diallyl sulfide that gives garlic its distinct smell.106 Garlic and its constituents have been well proven to lessen CRC carcinogenesis, reduce proliferation, block angiogenesis, induce differentiation and apoptosis, inhibit cyclooxygenase-2 and squelch free radical.

Probiotics – The interplay between dietary components and the microbiota of the colon is thought to have a integral role in carcinogenic processes of the colonic epithelium, as well as overall health and disease. The short-chain fatty acid butyrate is a product of microbiota metabolism of fiber from the diet, and butyrate is involved in colonic homeostasis of colonic crypts. Many other compounds formed from microflora may influence the inflammatory environment of the colon, systemic immune function, and the presence of bioactive compounds locally that may promote or inhibit carcinogenic processes.

Green tea components such as polyphenols (eg, epigallocatechin-3-gallate, EGCG) can affect colorectal carcinogenic processes.


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February 7, 2017

Krabbe disease is also known by many other names, these include Globoid cell leukodystrophy, Galactosylcerebrosidase deficiency and Galactosylceramidase deficiency. It is a very rare condition that is caused by a genetic defect that affects the nervous system.

Those affected by Krabbe typically appear healthy until onset, or when an individual experiences symptoms, of the disease. Onset can vary from the first few weeks or months of life (Early Infantile Onset) into adulthood (Adult Onset).

Those who suffer from Krabbe Disease have a deficiency of an important enzyme called Galactosylceramidase (GALC).

Krabbe Disease is both a Leukodystrophy and Lysosomal Storage Disorder (LSD). Leukodystrophies are characterized as degenerative diseases of the white matter of the brain. LSDs occur when a part of the cell, called the lysosome, does not function properly. In a healthy individual, enzymes break down material in the lysosomes, however, if the body does not produce enough of a specific enzyme (ex: GALC), material builds up and becomes toxic.

Krabbe disease is divided into four subtypes based on when the disease begins:

  • Type 1 – Infantile: begins at age 3 – 6 months
  • Type 2 – Late infantile: begins at age 6 months – 3 years
  • Type 3 – Juvenile: begins at age 3 – 8 years
  • Type 4 – Adult onset: begins any time after 8 years of age

Krabbe Disease affects both the central and peripheral nervous systems, which are responsible for all of the body’s voluntary and involuntary movements. The central nervous system is made up of the nerves within the brain and spinal cord and is the primary control center of the body. The peripheral nervous system’s primary function is to carry information from the brain and spinal cord throughout the body to the limbs and organs.


Krabbe disease is an autosomal recessive disease caused by mutations in the GALC gene. An individual who inherits one copy of a GALC mutation is a “carrier” and is not expected to have related health problems. An individual who inherits two disease-causing mutations in this gene, one from each parent, is expected to be affected with Krabbe disease.

If both members of a couple are carriers, the risk for an affected child is 25% in each pregnancy; therefore, it is especially important that the reproductive partner of a carrier be offered testing.

A defect in the GALC gene causes Krabbe disease. Persons with this gene defect do not make enough of a substance called galactocerebroside beta-galactosidase (galactosylceramidase). The body needs this substance to make myelin, the material that surrounds and protects nerve fibers. Without it, myelin breaks down, brain cells die, and nerves in the brain and other body areas do not work properly.

This condition is very rare. It is most common among people of Scandinavian descent.

Risk Factors

Krabbe disease can occur in individuals of all races and ethnicities, but it occurs most commonly among Muslim Arabs and Druze communities in Israel. The incidence is estimated to be 1 in 100,000 in the United States and Europe, with a calculated carrier frequency of 1 in 158.3

Having a relative who is a carrier or who is affected can increase an individual’s risk of being a carrier. Consultation with a genetics health professional may be helpful in determining carrier risk and appropriate testing.


The majority of cases of Krabbe Disease appear within the first year of life. The patients rapidly regress to a condition with little to no brain function, and generally die by age 2, though some have lived longer. Death generally occurs as a result of a respiratory infection or brain fever. Symptoms that might be encountered in the infantile form of Krabbe Disease include –

  • Developmental delay
  • Seizures
  • Limb stiffness
  • Optic atrophy: wasting of a muscle of the eye, resulting in vision diffculties
  • Neurosensoral deafness
  • Extreme irritability
  • Spasticity – presence of spasms
  • Ataxia – loss of the ability to control muscular movement
  • Progressive psychomotor decline: progressive decline in the coordination of movement

Although the majority of Krabbe Disease patients show symptoms within the first year of life, there have been cases diagnosed at all ages, through late adulthood. In general, the earlier the diagnosis, the more rapid the progression of the disease. Those who first show symptoms at ages 2-14 will regress and become severely incapacitated, and generally die 2-7 years following diagnosis. Some patients who have been diagnosed in the adolescent and adult years have symptoms that remain confined to weakness without any intellectual deterioration, while others may become bedridden and deteriorate both mentally and physically.


This disease damages the central nervous system. It can cause –

  • Blindness
  • Deafness
  • Severe problems with muscle tone

The disease is usually life-threatening.


Bone marrow transplantation and umbilical cord blood stem cell transplant are the ecognized treatments and have been found to preserve cognitive functions in some cases.

Anticonvulsant medications to manage seizures

Drugs to ease muscle spasticity and irritability

Physical therapy to minimize deterioration of muscle tone

Nutritional support, such as the use of a tube to deliver fluids and nutrients directly into the stomach (gastric tube)


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February 7, 2017

Klippel Trenaunay Syndrome (KTS) is a birth defect that causes abnormal growth of blood vessels and or the lymphatic system. This can affect both males and females equally and is known to affect every race. No one truly knows what causes KTS to happen and why it occurs where it does. The usual defect will appear in one area of the body while it may also occur in multiple locations as well. KTS can severely limit the abilities of a person with the type of pain that it can produce. There are no known cures for KTS and it is an ongoing/lifelong disability in many of the people that have it.

The syndrome is characterized by a localized or diffuse capillary malformation (port-wine stain) that overlies a venous malformation and/or lymphatic malformation with associated soft tissue and bone hypertrophy (excessive growth). The port-wine stain (caused by swelling of small blood vessels near the surface of the skin) is typically substantial, varicose veins are often quite numerous, and bone and soft tissue hypertrophy (overgrowth) is variable.

The affected limb is either larger or smaller than the unaffected limb. Hypertrophy occurs most commonly in the lower limbs, but may affect the arms, the face, the head or internal organs. Additionally, a wide range of other skeletal and skin abnormalities may be present. Patients may have an increased extremity circumference and an increase or decrease in the length of the limb.

Bony enlargement is usually not present at birth, but may appear within the first few months or years of life and may become particularly problematic during puberty. The affected area grows longer and thicker due to increased blood supply. Small vesicles (lymphatic blebs) appear within the capillary lesion and can bleed, become irritated and get infected.

In young adults, the capillary malformation may thicken and become more prominent.


The cause of KTS is a mutation in primitive cells that form a limb that were destined to become blood and lymphatic vessels, fat, and bones. There is gathering evidence that this is a somatic mutation in the gene PIK3CA. Because this genetic alteration does not occur in the germ cells, KTS cannot be passed on in a family.


The symptoms of Klippel-Trenaunay syndrome vary from patient to patient, but the following features are characteristic of the disease –

  • A red birthmark – Most children with Klippel-Trenaunay syndrome are born with a red birthmark (also known as a “port-wine” stain) caused by swelling of the small blood vessels near the skin surface. The birthmarks are typically flat, cover part of one limb, and vary in color from pink to dark purple. The lesion may also develop small red blisters that easily break open and bleed.
  • Vein malformations (varicosities) – Varicose veins (twisted and swollen veins) are not always present at birth and may appear when a child with KTS begins to walk. While mostly superficial, these varicosities may be found in muscles and bones or even organs such as the spleen, liver, bladder or colon. Malformations of large veins can increase the risk of deep vein thrombosis, a type of blood clot that can lodge in the lungs and cause a life-threatening condition known as pulmonary embolism.
  • Limb abnormalities – Beginning even before birth, the increased blood supply from enlarged blood vessels can cause soft tissues and bone to grow faster than the rest of the body. This excessive growth (called hypertrophy) happens most often in one leg, but also may be seen in the arms, face, head or internal organs.

Other symptoms include:

  • Blood clots
  • Skin infections (cellulitis)
  • Anemia, as a result of bleeding/blood loss
  • Cysts, swelling or other lymphatic abnormalities
  • Chronic pain in the affected arm or leg


Most people with Klippel-Trenaunay syndrome do well, although the condition may affect their appearance. Some people have psychological problems from the condition.

There can sometimes be abnormal blood vessels in the abdomen, which may need to be evaluated.


Compression therapy – Compression garments are often advised for chronic venous insufficiency, lymphedema, recurrent cellulitis and recurrent bleeding from the capillary or venous malformation. They help to control swelling and pain in the limb and help protect the limb from trauma. Intermittent pneumatic compression pumps and manual lymphatic massages may also provide benefit.

Pain medication, antibiotics, and limb elevation. These treatments are all used to manage cellulitis.

Anticoagulant therapy (the use of substances that prevent blood clotting) – This approach is indicated in cases of acute thrombosis (clotting) and is also used as a preventive measure prior to surgical procedures.

Shoe inserts – These are sometimes used to manage limb-length discrepancies that are less than 1 inch. For greater discrepancies, orthopaedic surgery may be considered.

Laser therapy – The flashlamp pulsed-dye laser is often effective in lightening the color of the port-wine stain in a patient with Klippel-Trénaunay syndrome. Many treatments are typically required to achieve a desirable result. Laser treatment is also indicated when there is ulceration and breakdown of lymphatic blebs, since it may speed the healing.

Surgery – Depending on individual circumstances and anatomical involvement a number of surgical options are occasionally advised.

Sclerotherapy – This treatment consists of the injection of a chemical into the vein causing inflammation. As the inner wall of the vein becomes inflamed, blood cannot flow through it. The vein then collapses and forms scar tissue. Sclerotherapy can also be used to damage lymphatic channels.

Low molecular weight heparin (LMWH) – This blood thinner (anticoagulant) can improve pain, phleboliths, and improve the risk of bleeding and clotting prior to the procedure.

Rapamycin – Rapamycin has been shown to improve young and old patients’ quality of life by improving pain, softening the malformation and decreasing bleeding from lymphatic blebs.

Alternative Treatment


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February 7, 2017

Klinefelter syndrome (also called XXY syndrome), was first described in 1942 by Dr Harry Klinefelter and is one of the more common chromosomal conditions affecting males. An additional X chromosome is found in the cells of these affected boys, giving them two X chromosomes instead of the usual one (see later).

A syndrome is a condition distinguished by a number of features that often occur together. There are a number of features that can be present in Klinefelter syndrome.

Some affected boys will have more features of the syndrome than others and there will be a difference in the degree of severity of the symptoms between affected boys. In some cases, a diagnosis of Klinefelter syndrome is not made until a boy approaches puberty and some.

The effects can vary greatly and may include:

  • Infertility – the condition may be diagnosed when fertility problems are being investigated.
  • Reduced testicle size – in all males with Klinefelter syndrome, the testicles do not develop properly and are noticeably smaller from early adolescence.
  • Incomplete puberty – not enough of the male hormone testosterone is produced and puberty may appear to be delayed. These boys may be given testosterone treatment so they develop usual male physical characteristics like facial hair and a deeper voice.
  • Language and learning problems – in many males with Klinefelter syndrome, difficulties with speech, writing, or understanding and processing speech may be noticed.

Klinefelter syndrome occurs in around one in every 450 male babies, which makes it one of the most common variations of the chromosomes. However, only around a quarter of these males have a diagnosis of Klinefelter syndrome, also known as XXY syndrome. The additional X chromosome does not influence sexual orientation.


Most people have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. The 2 sex chromosomes (X and Y) determine if you become a boy or a girl. Girls normally have 2 X chromosomes. Boys normally have 1 X and 1 Y chromosome.

Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. Usually, this occurs due to 1 extra X. This is written as XXY.

Klinefelter syndrome stems from a random genetic event. The risk of a child being born with Klinefelter syndrome isn’t increased by anything a parent does or doesn’t do. For older mothers, the risk is higher but only slightly.


Not all makes with XXY actually develop the syndrome or its symptoms.  In fact, many males show no abnormalities at all.  However, for those who have developed KS, the following characteristics have been identified:

  • Sterility (normal sexual function, but inability to produce sperm)
  • Breast Development
  • Incomplete masculine build; round body type
  • Undersized testes
  • Social difficulties (may be less confident, more immature, shy, passive, apathetic, sensitive, dependent, and have a fragile self‐esteem)
  • Learning difficulties
  • Restless sleep patterns, yet difficult to awake in the morning
  • Lower level of activity
  • Lower level of endurance
  • Hand tremors
  • Frustration‐based outburst
  • Decreased growth of facial hair
  • Large stature (average height is 6’1/2”)
  • Overweight
  • Speech and language problems (receptive skills are higher than expressive)
  • Difficulty learning to read and write


Complications of Klinefelter syndrome can include –

  • Delayed puberty
  • Noticeable physical features, such as sparse facial and body hair, unusually long legs and arms, lack of muscular development, and enlarged breast tissue
  • Learning disabilities, attention problems or social development issues
  • Infertility
  • Weak bones (osteoporosis)
  • Increased risk of varicose veins and other problems with blood vessels
  • Increased risk of breast cancer and cancers of the blood, bone marrow or lymph nodes
  • Increased risk of lung disease
  • Increased risk of autoimmune disorders, such as type 1 diabetes and lupus
  • Increased belly fat, which can lead to other health problems
  • Problems with sexual function


Testosterone therapy is used to increase strength, promote muscular development, grow body hair, improve mood and self esteem, increase energy and improve concentration.

Most men who have Klinefelter syndrome are not able to father children. However, some men with an extra X chromosome have fathered healthy offspring, sometimes with the help of infertility specialists.

Most men who have Klinefelter syndrome can expect to have a normal and productive life. Early diagnosis, in conjunction with educational interventions, medical management, and strong social support will optimize each individual?s potential in adulthood.

Breast tissue removal – In males who develop enlarged breasts (gynecomastia), excess breast tissue can be removed by a plastic surgeon, leaving a more normal-looking chest.

Speech and physical therapy – These treatments can help boys with Klinefelter syndrome overcome problems with speech, language and muscle weakness.

Educational support – Some boys with Klinefelter syndrome have trouble learning and can benefit from extra assistance. Talk to your child’s teacher, school counselor or school nurse about what kind of support might help.

Fertility treatment – Most men with Klinefelter syndrome are unable to father children, because no sperm are produced in the testicles. Some men with Klinefelter syndrome may have some minimal sperm production.

Psychological counseling – Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. For men with the condition, coping with infertility can be difficult. A family therapist, counselor or psychologist can help you work through emotional issues.

Alternative Treatment

Herbal Treatment – However, many herbs and supplements have been shown to have phytoestrogen properties, including agrimony, alfalfa, arginine, black cohosh, bloodroot, boron, burdock, chamomile, chasteberry, dong quai, Essiac®, fennel, fenugreek, fo-ti, ginseng, hops, kudzu, licorice, melatonin, niacin, oregano, pomegranate, pygeum, quercetin, red clover, resveratrol, soy, St. John’s wort, thyme, white horehound, and yucca.


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February 7, 2017

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances i.e. involuntary movement and intellectual, emotional and behavioural problems and dementia. It is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain.

Huntington’s disease was originally called Huntington’s chorea (“chorea” is the Greek word for dancing). This is because the involuntary movements associated with the condition can look like jerky dancing. However, “disease” is now the preferred term, because the condition involves a lot more than just abnormal movements.

HD causes cells in parts of the brain to die: specifically the caudate, the putamen and, as the disease progresses, the cerebral cortex. As the brain cells die, a person with Huntington’s becomes less able to control movements, recall events, make decisions and control emotions. The disease leads to incapacitation and, eventually, death (generally due to other health complications). Early features can include personality changes, mood swings, fidgety movements, irritability and altered behaviour, although these are often overlooked and attributed to something else.

HD is known as the quintessential family disease because every child of a parent with HD has a 50/50 chance of carrying the faulty gene. At present, there are approximately 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease. Males and females have the same risk of inheriting the disease. Huntington’s occurs in all races. Symptoms usually appear between the ages of 30 and 50, but the disease can appear in children or seniors.


  • Genetic Disorder

HD is a genetic disorder, inherited in an auto-somal dominant pattern, which means that each child of an affected parent has a 50 percent chance of inheriting the disease-causing gene. Individuals who inherit the HD gene almost always develop the symptoms of HD, usually at the same age as their affected parent or earlier. In around 3% of cases of Huntington’s disease, there’s no obvious family history of the condition. This could be due to adoption or because relatives with the condition died early from other causes. In rare cases, it’s due to a new expansion in the gene.

  • Gene Mutation

The gene responsible for HD is IT15, which is located on the short arm of chromosome 4. This gene produces a protein known as huntingtin, whose function remains unknown. The mutation that causes HD consists of an unstable enlargement of the gene’s CAG (cytosine-adenine-guanine) repeat sequence, which results in an abnormal elongation of the huntingtin protein. Normally, the number of CAG repeats is less than 29, while in persons with HD the gene usually contains more than 36 repeats. It is unclear whether individuals with between 29 and 36 CAG repeats, will develop symptoms of HD, but they may transmit HD to their children because the number of repeats grows over successive generations. The degree of repeat expansion over a generation is usually greater when the gene is inherited from one’s father. The number of repeats inversely correlates with the age at onset, such that children with HD may have 100 CAG repeats or more. Accordingly, young-onset patients usually inherit the disease from their father while older-onset patients are more likely to inherit the gene from their mother. There is no difference in the mean number of repeats between patients presenting with psychiatric symptoms and those with chorea and other motor disorders, though the rigid juvenile patients have the largest number of repeats.

  • Environmental Triggers

Studies suggest that this same mechanism of gliadin binding to tissue transglutaminase (tTG) in Celiac’s Disease, is the environmental trigger in Huntington’s disease. It’s the gliadin-tTG complex that is influencing pathogenesis, or mechanism by which Huntington’s Disease is caused.

  • Immune Activation: In another important set of studies, HLA-DR, a heterodimeric cell surface glycoprotein, expression was increased by gluten consumption. In active Huntington’s subjects, HLA-DR activity was so strong in their disease tissue, it was visible with the human eye after staining.
  • In the same way that gluten breaks down the barrier of the gut, there is some evidence that gluten can open up the blood-brain barrier and allow the gliadin-tTG complex to enter protected neural regions and activate the Huntington aggregates.


Physical symptoms include:

  • Mild twitching of the fingers and toes
  • Lack of coordination and a tendency to knock things over
  • Walking difficulties
  • Dance-like or jerky movements of the arms or legs (chorea)
  • Speech and swallowing difficulties.

Cognitive symptoms include:

  • Short-term memory loss
  • Difficulties in concentrating and making plans.
  • Emotional symptoms include:
  • Depression (around one third of people with Huntington’s disease experience depression)
  • Insomnia
  • Obsessive compulsive disorder
  • Irritability
  • Anxiety
  • Mania
  • Reduced sex drive
  • Fatigue
  • Feelings of worthlessness and guilt
  • Suicidal thoughts

Behavioral problems

  • Mood swings
  • Apathy
  • Aggression.

Although symptoms of HD vary from person to person, even within the same family, the progression of the disease can be roughly divided into three stages.

  • Early stage – HD usually includes subtle changes in coordination, perhaps some involuntary movements (chorea), difficulty thinking through problems and often a depressed or irritable mood. Medications are often effective in treating depression or other emotional problems. The effects of the disease may make the person less able to work at their customary level and less functional in their regular activities at home.
  • Middle stage – The movement disorder may become more of a problem. Medication for chorea may be considered to provide relief from involuntary movements. Occupational and physical therapists may be needed to help maintain control of voluntary movements and to deal with changes in thinking and reasoning abilities. Diminished speech and difficulty swallowing may require help from a speech language pathologist. Ordinary activities will become harder to do.
  • Late stage – The person with HD is totally dependent on others for their care. Choking becomes a major concern. Chorea may be severe or it may cease. At this stage, the person with HD can no longer walk and will be unable to speak. However, he or she is generally still able to comprehend language and retains an awareness of family and friends. When a person with HD dies, it is typically from complications of the disease, such as choking or infection and not from the disease itself.

In all stages of HD, weight loss can be an important complication that can correspond with worsening symptoms and should be countered by adjusting the diet and maintaining appetite.



Following drugs are used in the treatment of HD –

  • Dopamine-modifying Drugs – Dopamine is an important chemical in the brain. It is needed for nerve cells to communicate with areas of the body. Drugs that affect dopamine levels in the brain have been studied for treating HD. Studies suggest that the drug tetrabenazine (TBZ) can be helpful. TBZ appears to have a powerful effect on HD. However, be aware that TBZ can have the following serious side effects:
    • Parkinsonism (slowness in movement)
    • Depression; thoughts or plans of suicide
    • Neuroleptic malignant syndrome (a serious nervous system disorder)
    • Falls
    • Extreme restlessness

Neuroleptics are drugs used for psychosis, a mental disorder. These include – Clozapine, Olanzapine, Quetiapine, Risperidone

  • Glutamatergic-modifying Drugs – Glutamate is another important brain chemical. Like dopamine, glutamate helps nerve cells communicate with parts of the body. Drugs that affect glutamate levels in the brain have been studied for treating HD these include, amantadine and riluzole.
    • Blood Problems
    • Hypersensitivity Reaction
    • Neuroleptic malignant syndrome
    • Fluid buildup in the lungs
    • Lung failure
    • Thoughts or plans of suicide
    • Heart Problems
  • Energy Metabolites – Metabolism is the way in which the body breaks down certain chemicals for energy. These are known as energy metabolites. Some occur naturally in the body. Others come from foods or supplements such as vitamins. There is moderate evidence that ethyl-EPA may not have a strong effect on treating chorea. Weak evidence shows creatine may not have a strong effect.
  • Antipsychotic drugs – Drugs such as haloperidol (Haldol) and chlorpromazine, have a side effect of suppressing movements. Therefore, they may be beneficial in treating chorea. These drugs may, however, worsen involuntary contractions (dystonia) and muscle rigidity. Newer drugs, such as risperidone (Risperdal) and quetiapine (Seroquel), may have fewer side effects but still should be used with caution, as they may also worsen symptoms.
  • Other Drugs – Several other drugs have been studied for use in HD chorea. One such drug, nabilone, typically is used to treat nausea (upset stomach) and vomiting from chemotherapy in some cancers. Nabilone also has been used to treat pain. Weak evidence shows nabilone may have a slight effect in treating HD . There is not enough evidence to know if nabilone should be used long-term. This drug may be habit forming and may cause psychosis. Donepezil is another drug studied for treating HD. This drug was developed to treat thinking problems in dementia. There is not enough evidence to know if donepezil helps treat HD chorea. Two additional drugs have been studied in treating HD chorea. One, the antibiotic minocycline, is used to treat infections. Moderate evidence shows minocycline does not have a strong effect in treating HD chorea. The drug coenzyme Q10 is a supplement used to treat a number of conditions. There is evidence that coenzyme Q10 does not have a moderate effect in treating HD.
  • Psychotherapy – A psychotherapist — a psychiatrist, psychologist or clinical social worker — can provide talk therapy to help a person manage behavioral problems, develop coping strategies, manage expectations during progression of the disease and facilitate effective communication among family members.
  • Speech therapy – Huntington’s disease can significantly impair control of muscles of the mouth and throat that are essential for speech, eating and swallowing. A speech therapist can help improve the ability to speak clearly or teach the use communication devices — such as a board covered with pictures of everyday items and activities. Speech therapists can also address difficulties with muscles used in eating and swallowing.
  • Physical therapy – A physical therapist can teach appropriate and safe exercises that enhance strength, flexibility, balance and coordination. These exercises can help maintain mobility as long as possible and may reduce the risk of falls.

Stem cell transplantation – Experimental studies for the treatment of HD include transplantation of human (stem cells) or pig fetal cells. Stem cell research is investigational and the side effects are not known.

Alternative Medicine –

  • Vitamin E – Vitamin E can fight damage in the brain caused by free radicals, and has been suggested to lower the risk of HD. Vitamin E supplements can increase the risk of bleeding, especially if you also take blood thinners, such as warfarin (Coumadin), clopidogrel (Plavix), or aspirin. Selenium is an antioxidant that works with vitamin E. It also helps to increase circulation and tissue oxygenation, thereby limiting damage to nerve cells.
  • Gamma-aminobutyric acid (GABA) is an amino acid that acts as a neurotransmitter. It helps both to strengthen and relax the nervous system.
  • Acidophilus and bifidobacteria are friendly bacteria that ensure a healthy gastrointestinal tract. Probiotics are especially helpful for preventing Gut issues which is often a problem for people with HD
  • Alpha-lipoic acid is an antioxidant that also helps to “recharge” other antioxidants in the body.
  • Calcium and magnesium are imperative for maintaining a healthy nervous system.
  • Coenzyme Q10 is an oxygenating antioxidant that helps prevent free-radical damage and important for cell renewal.
  • Evening primrose oil and flaxseed oil contain valuable essential fatty acids (EFAs), which are often deficient in people with HD.
  • Creatine – Some studies suggest that taking creatine, an amino acid that helps supply energy to muscles, may help slow progression of HD among people who are in the early stages, and who do not need medication to control symptoms
  • Bacopa monnieri (Brahmi) Supplements – It is used for the treatment of epilepsy, insomnia, anxiety, and as memory enhancer.
  • Turmeric – Studies suggest that the improved 3-NP-induced motor and cognitive impairment along with a strong antioxidant property indicates that turmeric could be useful and can act as a lead molecule in the treatment of HD.
  • Flavonoids – Flavonoids exhibit several biological effects such as anti-inflammatory, anti-hepatotoxic, anti-ulcer, anti-allergic, and antiviral actions. They are potent antioxidants and have free radical scavenging abilities by virtue of their aromatic hydroxyl groups.
  • DHA – DHA (docosahexaenoic acid) is probably the most important of the omega 3 fatty acids for Huntington’s. Recent research shows that EPA, (eicosapentaenoate), and GLA (gamma linoleic acid) are probably far inferior.
February 7, 2017

Hunter Syndrome (or Mucopolysaccharidosis/MPS II) is a rare condition affecting between 1 in 100,000 to 1 in 150,000 male births, although it is estimated that the grouping of MPS conditions collectively affect 1 in 25,000 births in the United States (MPS conditions include MPS I, II, III, IV, VI, VII and ML II and III).

Hunter’s Syndrome is one of a family of disorders called enzyme deficiencies. Enzymes are special types of proteins required to break down food molecules into fuel during metabolism, the process by which the body gets energy for normal growth and development. Enzyme deficiencies, or the absence of these enzymes, are inherited defects that result in a number of life-changing or life-threatening conditions.

Hunter syndrome is often severe and always progressive. It affects the brain and spinal cord, resulting in debilitating signs and symptoms that include developmental delay, and progressive mental decline. It also affects the body resulting in loss of physical function, impaired language development (due to hearing loss and an enlarged tongue), corneal and retinal damage, carpal tunnel syndrome and restricted joint movement.

Unrelated children with Hunter Syndrome often look alike and have a distinctive coarseness in their facial features, including a prominent forehead, a nose with a flattened bridge, and enlarged lips and tongue. They may also have a large head, short neck, broad chest, thick hands, and an enlarged abdomen.

There is no cure for MPS diseases, but there are ways of managing and treating the problems they cause, including enzyme replacement therapies.


The cause of Hunter syndrome is a mutation in a gene which controls the production of (codes for) the enzyme iduronate sulfatase. This gene, known as IDS, is located on the long arm of the X chromosome (Xq27-28).

The enzyme iduronate sulfatase contributes to breaking down mucopolysaccharides (also known as glycosaminoglycans). These saccharides, with their long chains of carbohydrate units, are components of various tissues. Breakdown of the mucopolysaccharides normally takes place in the cell lysosomes, small units found in all cells except red blood cells. Lysosomes contain enzymes, proteins that contribute to chemical reactions without themselves undergoing any permanent change, and their function is to digest and break down various substances.

Mucopolysaccharides are long chains of sugar molecule used in the building of connective tissues in the body.

  • “saccharide” is a general term for a sugar molecule (think of saccharin)
  • “poly” means many
  • “muco” refers to the thick jelly-like consistency of the molecules

Hunter syndrome is characterized by iduronate sulfatase deficiency, which results in the build-up of undigested mucopolysaccharides in the cells. These aggregations damage various tissues and organs in the body.

Heridity – The inheritance pattern of Hunter syndrome is X-linked recessive. An X-linked recessive inheritance pattern is caused by a mutated gene located on the X chromosome, which is one of the chromosomes determining sex. Men have one X chromosome and one Y chromosome, while women have two X chromosomes. Inherited X-linked recessive disorders usually occur only in men, being passed down via a healthy female carrier who has one normal and one mutated gene. Sons of female carriers of a mutated gene run a 50% risk of inheriting the disease and daughters run the same risk of being healthy carriers of a mutated gene. A man with an inherited X-linked recessive disease cannot pass it on to his sons, but all his daughters will be carriers of the mutated gene.

Risk Factors

There are two major risk factors for developing Hunter syndrome:

  • Family history – Hunter syndrome is caused by a defective chromosome, and a child must inherit the defective chromosome to develop the disease. Hunter syndrome is what’s known as an X-linked recessive disease. This means that women carry the defective disease-causing X chromosome and can pass it on, but women aren’t affected by the disease themselves.
  • Sex – Hunter syndrome nearly always occurs in males. Girls are far less at risk of developing this disease because they inherit two X chromosomes. If one of the X chromosomes is defective, their normal X chromosome can provide a functioning gene. If the X chromosome of a male is defective, however, there isn’t another normal X chromosome to compensate for the problem.


Hunter syndrome is one type of a group of inherited metabolic disorders called mucopolysaccharidoses (MPSs), and Hunter syndrome is referred to as MPS II.

Hunter syndrome symptoms vary and range from mild to severe. Symptoms aren’t present at birth, but often begin around ages 2 to 4.

Common childhood occurrences but early symptoms of Hunter syndrome –

  • Inguinal hernia
  • Ear infections
  • Runny nose
  • Difficulty breathing
  • Heart murmur

Signs and symptoms may include –

  • An enlarged head (macrocephaly)
  • Thickening of the lips
  • A broad nose and flared nostrils
  • A protruding tongue
  • A deep, hoarse voice
  • Abnormal bone size or shape and other skeletal irregularities
  • A distended abdomen, as a result of enlarged internal organs
  • Diarrhea
  • White skin growths that resemble pebbles
  • Joint stiffness
  • Aggressive behavior
  • Stunted growth
  • Delayed development, such as late walking or talking

It is difficult to be precise about life expectancy because of variation in severity and age of onset. Some individuals whose brain is affected have lived into adulthood but this is usually accompanied by a decline in their quality of life as brain function deteriorates.

If the brain is not affected, a more normal life span can be expected, but significant physical problems can develop that, without treatment, may reduce life expectancy.


  • Airway obstruction
  • Carpal tunnel syndrome
  • Hearing loss that gets worse over time
  • Loss of ability to complete daily living activities
  • Joint stiffness that leads to contractures
  • Mental function that gets worse over time


The U.S. Food and Drug Administration has approved the first treatment for Hunter syndrome. The medicine, called idursulfase (Elaprase), is given through a vein (intravenously).

Treatment focuses on managing signs, symptoms and complications to provide some relief for the child as the disease progresses –

Enzyme replacement therapy (ERT) can help slow the disease for boys with milder Hunter syndrome. It replaces the protein their body doesn’t make. ERT can help improve –

  • Walking, climbing stairs, and the ability to keep up in general
  • Movement and stiff joints
  • Breathing
  • Growth
  • Hair and facial features

ERT is the first treatment for kids whose brains aren’t affected. It doesn’t slow the disease in the brain.

Bone marrow and umbilical cord blood transplants – These transplants bring cells into your child’s body that can hopefully make the protein he’s missing. The new cells come from either a bone marrow donor whose cells match your child’s or the stem cells of umbilical cord blood from newborn babies.

Relief for respiratory complications – Removal of tonsils and adenoids can open up your child’s airway and help relieve sleep apnea. But as the disease progresses, tissues continue to thicken and these problems can come back.

Addressing heart complications – The child’s doctor will want to watch closely for cardiovascular complications, such as high blood pressure, heart murmur and leaky heart valves. If the child has severe cardiovascular problems, the doctor may recommend surgery to replace heart valves.

Treatment for skeletal and connective tissue problems – Because most children with Hunter syndrome don’t heal well and often have complications after surgery, options are limited for addressing skeletal and connective tissue complications. For example, surgery to stabilize the spine using internal hardware is difficult when bones are fragile.

Managing neurological complications – Problems associated with the buildup of fluid and tissue around the brain and spinal cord are difficult to address because of the inherent risks in treating these parts of the body.

Managing behavioral problems – If the child develops abnormal behavior as a result of Hunter syndrome, providing a safe home environment is one of the most important ways of managing this challenge.

Addressing sleep issues – The sleep patterns of a child with Hunter syndrome become more and more disorganized. Medications including sedatives and especially melatonin can improve sleep.


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