Gilbert’s Syndrome

February 7, 2017

Gilbert’s syndrome is a fairly common, mild liver disorder that is caused by an inherited deficiency of an enzyme involved in the metabolism of bilirubin. In people with Gilbert’s syndrome, the bilirubin is typically mildly elevated and often fluctuates. At times, it may be within the normal range whereas at other times, the level may be higher than normal, but not dangerously so.

The medical name for this is ‘unconjugated hyperbilirubinemia’. It is also sometimes called familial nonhaemolytic bilirubinaemia or constitutional hepatic dysfunction. These long names may not sound promising but GS is in fact a harmless condition. It is not a disease and it is possible that you may not even know you have it.

What is Bilirubin?

Small amounts of bilirubin are normally present in the blood. Bilirubin is produced from the natural breakdown of hemoglobin (the red pigment of red blood cells) in bone marrow, the spleen, and other organs. It is carried to the liver in the blood where it undergoes a series of chemical changes and is excreted into the bile. It undergoes further chemical changes within the intestine, and from there passes out of the body. However, when red blood cells break down excessively (called hemolysis) or there is interference in the normal processes for bilirubin metabolism or bile excretion, the amount of bilirubin increases. High levels of bilirubin in the blood may produce jaundice (a yellow discoloration of the skin and/or eyes), and in the urine may produce a tea-coloured appearance.

Men are at higher risk than women, and tend to develop Gilbert’s syndrome between their late teens and early 30s. Usually, the disorder is diagnosed by chance during the investigation of unrelated illnesses. Some people with Gilbert syndrome also experience abdominal discomfort or tiredness. However, approximately 30 percent of people with Gilbert syndrome have no signs or symptoms of the condition and are discovered only when routine blood tests reveal elevated unconjugated bilirubin levels.

Causes

Gilbert’s syndrome is caused by decreased hepatic levels of the enzyme glucuronosyltransferase. As this enzyme is responsible for the glucuronidation (conjugation) of bilirubin in the liver, reduced activity of this enzyme leads to an accumulation of unconjugated bilirubin in the circulation.

The genetic defect has been identified as the presence of two additional nucleotides in the promoter region of the gene leading to reduced gene expression and therefore reduced enzyme activity. In affected individuals the enzyme is usually functioning at about 25% of normal levels. Of interest the syndrome may be passed to recipients of liver transplantation if the donor was affected. A mutation is a permanent change in the code of the DNA making up a gene or chromosome. This can alter the way a physical characteristic is expressed or cause some function in the body to occur differently. Sometimes the word ‘variant’ is used instead of mutation as many changes do not cause any disorder.

Although hemolysis is not part of the syndrome, many patients who consult physicians may have a high bilirubin load because of a slightly reduced erythrocyte life span. Fasting may also increase the bilirubin load, and the resulting hyperbilirubinemia may be exaggerated in patients with Gilbert’s syndrome because of the reduced expression of the glucuronidating enzyme.

Alcohol is the most common chemical responsible for toxic damage to the liver, causing fatty liver, alcoholic hepatitis, Gilbert’s Syndrome and, potentially, cirrhosis of the liver . Exposure to industrial chemicals may harm the liver. Many prescription medications may damage the liver as well, including cholesterol-lowering drugs in the statin family and high-dose niacin (also used to reduce cholesterol levels.) The over-the-counter drug acetaminophen (Tylenol) is highly toxic to the liver when taken to excess. Finally, numerous natural herbs and supplements contain chemicals that may cause or accelerate harm to the liver.

Symptoms

  • Frequently Reported – fatigue, tiredness, brain fog, headaches, poor memory, dizziness, depression, irritability, anxiety, nausea, loss of appetite, irritable bowel syndrome (IBS), stomach pain & cramping, liver/gallbladder pain, abdominal pain, tremors, itchiness, jaundice.
  • Commonly Reported – insomnia, difficulty concentrating, panic attacks, hypoglycemic reaction to foods, intolerance to carbs, food intolerances, alcohol intolerance, loose stools / diarrhea, abdominal bloating or swelling, breathlessness or labored breathing, heart palpitations, aching muscles / body ache, joint pain, numbness & tingling, weakness, chemical sensitivity, weight loss, lump in the throat, feeling constantly sick.
  • Sometimes Reported – difficulty finding the right words, feeling drunk, vomiting, intolerance to fatty foods, strong hangovers, acid reflux, excessive thirst, chest pain, muscle twitches, cold hands and feet, environmental allergies, swollen lymph nodes, toxic feeling, bitter or metallic taste in the mouth, eye pain.
  • Occasionally Reported – waking panic attack, mood swings, feeling antisocial, intolerance to drugs, constipation, pale stools, indigestion, back pain, dry skin, feeling cold, low body temperature, pale skin, low weight, night sweats, excessive sweating, poor immune system, sore or dry throat, light sensitivity, bloodshot eyes.

However, these problems are not thought to be directly related to increased bilirubin levels, and could mean you have another condition other than Gilbert’s syndrome.

Diseases Associated with Gilbert’s Syndrome

  • Acute inflammation of the liver – may impair the ability of the liver to conjugate and secrete bilirubin.
  • Inflammation of the bile duct – may prevent the secretion of bile and removal of bilirubin.
  • Obstruction of the bile duct – prevents the liver from disposing of bilirubin.
  • Hemolytic anemia – bilirubin production increases when lots of erythrocytes are broken down.
  • Cholestasis – the flow of bile from the liver is interrupted. The bile containing conjugated bilirubin remains in the liver instead of being excreted.
  • Crigler-Najjar syndrome – an inherited condition that impairs the specific enzyme responsible for processing bilirubin, resulting in an excess of bilirubin.
  • Dubin-Johnson syndrome – an inherited form of chronic jaundice that prevents conjugated bilirubin from being secreted out of the liver’s cells.
  • Pseudojaundice – a harmless form of jaundice in which the yellowing of the skin results from an excess of beta-carotene, not from an excess of bilirubin; usually from eating lots of carrots, pumpkin, or melon.

Treatment

Conventional Treatment – No treatment is needed for majority of patients. There is no health problems associated with this condition and thus most patients do not need any therapy.

Patients with Gilbert’s syndrome have a normal life expectancy and do not have a raised risk of other liver ailments.

Patients who find the jaundice symptoms too unsettling may benefit from Phenobarbital, a medication which lowers bilirubin levels. Phenobarbital may cause sedation and light-headedness. It is important for the patient to realize that in this case the medication is not being taken for health reasons.

Alternative Treatment

  • Zinc – Zinc formulations have been used since ancient Egyptian times to enhance wound healing. Zinc sulfate supplementation seemed to decrease serum unconjugated bilirubin levels in limited available study. Well-designed clinical trials are needed to better understand the potential role of zinc in Gilbert’s syndrome.
  • SAMe: SAMe (S-adenosyl-L-methionine) is a natural substance that is found inside all cells in the body. Early laboratory evidence suggests that SAMe may reduce bilirubin levels in patients with Gilbert’s syndrome. SAMe may improve the transport of bilirubin, which is impaired in people with Gilbert’s syndrome. However, until studies are performed in humans, it remains unclear if SAMe supplements are a safe and effective therapy for this condition.
  • Milk thistle is also used in a vague condition known as minor hepatic insufficiency, or sluggish liver and Glibert’s syndrome.
  • Probiotics have been studied as possible treatment for liver disease.
  • Peppermint is commonly used to flavor foods, candy and other consumable products. When used medicinally, peppermint may help soothe certain digestive orders as well as headaches associated with Gilbert’s disease.
  • Chamomile is an herb that is commonly used as a calming and relaxing herb.
  • Numerous other herbs and supplements have shown a bit of promise in test tube studies for protecting the liver, including –
    • Andrographis
    • Artichoke leaf
    • Beet leaf
    • Choline
    • Dandelion
    • Inositol
    • Lecithin
    • Licorice
    • Lipoic acid
    • Liver extracts,
    • Picrorhiza kurroa
    • Schisandra
    • Taurine
    • Thymus extract
    • Turmeric

To be noted

  • Many natural products have the capacity to harm the liver. Furthermore, due to the generally inadequate regulation of dietary supplements that exists at the time of this writing, there are real risks that herbal products, at least, may contain liver-toxic contaminants even if the actual herbs listed on the label are safe.
  • High doses of the supplements beta-carotene and vitamin A are thought to accelerate the progression of alcoholic liver disease in people who abuse alcohol
  • All forms of vitamin B3, including niacin, niacinamide (nicotinamide), and inositol hexaniacinate, may damage the liver when taken in high doses.
  • A great many herbs and supplements have known or suspected liver-toxic properties, including but not limited to: chaparral , coltsfoot , corydalis , comfrey , germander , germanium (a mineral), greater celandine , green tea extracts (despite its proposed benefits), kava , kombucha , mistletoe , noni , pennyroyal , pokeroot , sassafras , and various herbs and minerals used in traditional Chinese herbal medicine .

 

Reference –

http://www.news-medical.net/health/Gilberte28099s-Syndrome-Treatment.aspx

http://www.medicalnewstoday.com/articles/166971.php

http://www.medicinenet.com/gilbert_syndrome/article.htm#what_is_the_treatment_for_gilbert_syndrome

http://patient.info/health/gilberts-syndrome-leaflet

http://www.hse.ie/eng/health/az/G/Gilbert’s-syndrome/Causes-of-Gilbert’s-syndrome.html#Causes-of-Gilbert’s-syndrome

http://www.nhs.uk/conditions/Gilbertssyndrome/Pages/Introduction.aspx

http://growyouthful.com/ailment/gilberts-syndrome.php

Posted in ORGAN SYSTEM