Cystic Fibrosis

February 3, 2017

Cystic fibrosis (CF) is a chronic, progressive, and frequently fatal genetic (inherited) disease of the body’s mucus glands. “Inherited” means the disease is passed from parents to children through genes. People who have CF inherit two faulty genes for the disease—one from each parent. The parents likely don’t have the disease themselves. CF mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.

Cystic fibrosis causes various effects on the body, but mainly affects the digestive system and lungs. The degree of cystic fibrosis involvement differs from person to person. However, the persistence and ongoing infection in the lungs, with destruction of lungs and loss of lung function, eventually causes death in the majority of people who have cystic fibrosis.

Cystic fibrosis affects at least 30,000 people in the United States; between 900 and 1,000 new cases are diagnosed every year. One in 29 people of Caucasian ancestry is an unaffected carrier of the CF gene mutation. In the United States, cystic fibrosis occurs at a rate of 1 in 3,400 births. While it occurs in persons of all racial and ethnic backgrounds, it is most common in Caucasians of Northern European ancestry. Historically, half of affected individuals were diagnosed by five months of age, though the average age at diagnosis was five years, and some individuals were not diagnosed until adulthood. CF worsens with age. If you have CF, you usually experience a small decline in lung function each year.

Affects of CF

Cystic fibrosis can affect the whole body. Cystic fibrosis affects a specific protein called cystic fibrosis trans-membrane regulator (CFTR) that controls the normal movement of sodium (Na), chloride (Cl), as well as water in and out of the cells in different parts of the body. People with CF either have too little or abnormal CFTR. When CFTR is absent or defective, the mucus normally secreted by the cells in the pulmonary airways (breathing tubes), pancreatic ducts, gastrointestinal tract, and reproductive system becomes thickened. This thickened mucus causes blockages (obstructions), frequent infection, and loss of function in the affected organs.

In the lungs, absence of CFTR leads to thick mucus that obstructs the airways. When mucus is not cleared, it creates an environment for bacteria to grow and infect the airways. This leads to a vicious cycle with more mucus, more airway blockage and more infections. Over the course of many years, this damages the airways and eventually the lung tissue.

CF also affects other organs and systems in the body. For example:

 

  • In the pancreas, ducts become blocked, causing fibrosis (scarring) of the pancreas. This leads to reduced absorption of fat and vitamins. And it can also cause a type of diabetes referred to as “cystic fibrosis-related diabetes.”

 

  • In the digestive tract, intestinal secretions can be much thicker than normal. This causes blockages in the intestines and sometimes requires surgery.

 

 

  • In the liver, ducts can be blocked causing damage to the liver cells and cirrhosis.

 

  • In the reproductive tract, increased mucus can cause decreased fertility or infertility in both men and women.

Causes

Genetic Factor – CF gene mutations are divided into classes based on how damaged the CFTR protein function is. Classes I, II, and III are generally more severe causing “classic CF.” Classes IV and V are usually milder. Also, other genes called modifier genes can affect a person’s symptoms and outcome.

Cystic fibrosis is a genetic disease that occurs when a child inherits two abnormal genes, one from each parent. Approximately, one in 25 Americans carry an abnormal version of the gene responsible for cystic fibrosis. Carriers do not have cystic fibrosis, nor do they exhibit any of the symptoms of the disease.

In case where two parents who are carriers have a child, there is a 25 percent chance that the child will be born with cystic fibrosis; there is also a 50 percent chance that the child will be a carrier; and a 25 percent chance that the child will neither be a carrier nor have cystic fibrosis.

Environmental Factors – Environmental exposures worsen CF lung disease. Children who are exposed to tobacco smoke have lower lung function and more pulmonary exacerbations than those who live in smoke-free environments. High levels of air pollution are associated with an increased rate of adverse pulmonary events.

Lifestyle Factors – People with CF need to consume a very large number of calories to maintain weight and grow, which can be difficult to achieve. Physical activity is also important to help keep lungs healthy.

Symptoms

The type and severity of CF symptoms varies from person to person. In some people not identified with CF through newborn screening, there may be health problems that indicate the presence of CF, such as –

  • Salty-tasting skin
  • Slow weight gain, failure to thrive, even with good appetite
  • Wheezing, coughing, pneumonia
  • Abnormal bowel movements

Lungs – Almost everyone with Cystic Fibrosis will sooner or later develop lung disease. However, when it occurs and how bad it is differs from person to person. The thickened mucus builds up in the bronchioles and reduces airflow, making the patient short of breath and wheeze with exercise. This mucus can build up to such an extent that it plugs the smaller airways of the lungs and can then harbor bacteria which cause infection.

Digestive Symptoms – Cystic Fibrosis mainly affects the digestive system by mucus blocking the pancreas, stopping the digestive enzymes produced from making their way to the gut to digest food. This complication can cause malnutrition and malabsorption even though the patient has good appetite. Symptoms of malabsorption include poor weight gain, frequent foul-smelling stools, stomach ache, and excessive gas. Enzyme supplements, supplementary feeding, and vitamin replacement all assist with compensating for decreased activity of the pancreas.

Other

  • Cystic Fibrosis has no effect on brain or sensory function, or mental acuity.
  • A small percentage of the CF population may be affected by mucus blockage in the small ducts within the liver, reducing liver function.
  • Adults with CF are also prone to osteoporosis (thin, brittle bones) due to nutritional problems and the adverse effects of steroid medications.
  • In most men with CF, the tubes that carry the sperm are blocked or have never developed (Absence of the Vas Deferens), this can cause fertility problems, but does not cause sexual impotency.
  • Women with CF may have irregular menstrual cycles related to nutritional issues, but they do produce healthy fertile eggs, so effective contraception is necessary.

Treatment

Physiotherapy and exercise – Regular chest physiotherapy is very important. This helps to clear the airways of the thick mucus. A physiotherapist usually shows parents how to do this for their children. It involves a special way to firmly pat the chest whilst the child lies head-down to encourage mucus and sputum to be coughed out.

Medications – In CF, the doctor may prescribe antibiotics, anti-inflammatory medicines, bronchodilators, or medicines to help clear the mucus. These medicines help treat or prevent lung infections, reduce swelling and open up the airways, and thin mucus. In case of mutations in a gene called G551D, which occurs in about 5 percent of people who have CF, the doctor may prescribe the oral medicine ivacaftor (approved for people with CF who are 6 years of age and older).

Antibiotics are frequently needed to treat bacteria that grow in the mucus. These can be given in one of three ways –

  • Orally or by mouth – this is the easiest and cheapest route.
  • By inhalation – this is more expensive but very effective.
  • Intravenously (IV) – this is usually reserved for those who are sicker.

Antiinflammatory medications have also been found to be helpful in CF. Two medications are currently in use, ibuprofen and azithromycin (an antibiotic that’s used as an antiinflammatory agent in CF).

Pulmonary Rehabilitation – R doesn’t replace medical therapy. Instead, it’s used with medical therapy and may include –

  • Exercise training
  • Nutritional counseling
  • Education on your lung disease or condition and how to manage it
  • Energy-conserving techniques
  • Breathing strategies
  • Psychological counseling and/or group support

Alternative Treatment

Omega-3 fatty acids, such as fish oil, 1 to 2 capsules or 1 tablespoonful of oil twice daily, to reduce inflammation and improve immunity. Fish oils may increase bleeding in sensitive individuals, such as those taking blood-thinning medications (including aspirin).

A multivitamin daily, containing the antioxidant vitamins A, C, D, E, K, the B-vitamins and trace minerals, such as magnesium, calcium, zinc, and selenium.

Digestive enzymes

Coenzyme Q10, 100 for antioxidant and immune activity.

N-acetyl cysteine (NAC) for antioxidant effects. Alternative health care practitioners may use higher dosages.

Probiotic supplement for maintenance of gastrointestinal and immune health.

Methylsulfonylmethane (MSM) to help reduce inflammation.

Whey protein helps to support of immunity and weight gain, when needed. Whey protein can interact with some medications, particularly Levodopa.

Green tea (Camellia sinensis) standardized extract, helps in antioxidant and immune effects. You may also prepare teas from the leaf of this herb.

Cat’s claw (Uncaria tomentosa) standardized extracthelps in inflammation, immune and antibacterial or antifungal activity. Cat’s claw may interact with certain medications, including blood pressure medications.

Milk thistle (Silybum marianum) seed helps in detoxification support. Milk thistle may have an estrogen-like effect, so people who have a history of hormone-related cancers should use milk thistle with caution. Milk thistle is in the same family as ragweed and may cause allergic reactions in people who are sensitive to ragweed.

Bromelain (Ananus comosus) helps in pain and inflammation. Bromelain may increase bleeding in sensitive individuals, such as those taking blood-thinning medications, including aspirin.

Ground Ivy (Hedera helix) standardized helps to reduce mucous production and to loosen phlegm. Ground ivy can be particularly toxic to the liver and kidneys.

 

Reference –

http://www.cysticfibrosis.ca/about-cf/what-is-cystic-fibrosis/

http://www.webmd.com/lung/what-is-cystic-fibrosis?page=2#1

http://www.nhs.uk/Conditions/cystic-fibrosis/Pages/Causes.aspx

http://www.lung.org/lung-health-and-diseases/lung-disease-lookup/cystic-fibrosis/cystic-fibrosis-symptoms-causes-risks.html

http://www.medicinenet.com/cystic_fibrosis/article.htm

https://www.cysticfibrosis.org.au/

http://www.prevention.com/mind-body/natural-remedies/alternative-medicine-saved-our-lives

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