Cystic fibrosis

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Cystic fibrosis is an inherited disease that causes thick, sticky mucus to build up in the lungs and digestive tract. It is the most common type of chronic lung disease in children and young adults, and may result in early death.

Manifestations of cystic fibrosis
Manifestations of cystic fibrosis

Causes, incidence, and risk factors

Cystic fibrosis (CF) is caused by a defective gene which tells the body to produce abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and the pancreas, the organ that helps to break down and absorb food. This collection of sticky mucus results in life-threatening lung infections and serious digestion problems. The disease may also affect the sweat glands and a man's reproductive system.

Millions of Americans carry the defective CF gene, but do not have any symptoms. That's because a person with CF must inherit two defective CF genes -- one from each parent. An estimated 3% to 10% of Caucasians have the CF gene. The disease is the most common, deadly, inherited disorder affecting Caucasians in the United States. It's more common among those of Northern or Central European descent.

Most children are diagnosed with CF by their 1st birthday. A small number, however, are not diagnosed until age 18 or older. These patients usually have a milder form of the disease.

Symptoms

Because there are more than 1,000 mutations of the CF gene, symptoms differ from person to person. But in general they include:

  • No bowel movements in first 24 to 48 hours of life
  • Stools that are pale or clay colored, foul smelling, or that float
  • Infants may have salty-tasting skin
  • Recurrent respiratory infections, such as pneumonia or sinusitis
  • Coughing or wheezing
  • Weight loss, or failure to gain weight normally in childhood
  • Diarrhea
  • Delayed growth
  • Fatigue
Clubbing in cystic fibrosis
Clubbing in cystic fibrosis

Signs and tests

In May 2005, the U.S. Food and Drug Administration approved the first DNA-based blood test to help detect CF. The test looks for variations in a gene known to cause the disease. Other tests use to diagnose CF include:

  • Sweat chloride test. This is the standard diagnostic test for CF. A high salt level in the patient's sweat indicates the disease.
  • Fecal fat test
  • Upper GI and small bowel series
  • Measurement of pancreatic function
  • Cystic fibrosis may alter the results of the following tests:

Treatment

An early diagnosis of CF and a comprehensive treatment plan can improve both survival and quality of life. Specialty clinics for cystic fibrosis may be helpful and can be found in many communities.

Treatment includes:

  • Antibiotics for respiratory infections.
  • Pancreatic enzymes to replace those that are missing.
  • Vitamin supplements, especially vitamins A, D, E, and K.
  • Inhaled bronchodilators, such as albuterol (Proventil, Ventolin), help open the airways.
  • DNAse enzyme replacement therapy. The medication dornase (Pulmozyme) contains an enzyme that thins the mucus and makes it easier to cough up.
  • Pain relievers. Research has shown that the pain reliever ibuprofen may slow lung deterioration in some children with cystic fibrosis. The results were most dramatic in children ages 5 to 13.
  • Postural drainage and chest percussion.
  • Lung transplant may be considered in some cases.
  • Support Groups

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.

  • Aztreonam (Brand name: Cayston)To improve respiratory symptoms in cystic fibrosis (CF) patients with Pseudomonas aeruginosa
  • Ivacaftor (Brand name: Kalydeco)ivacaftor (KALYDECO) received expanded approval for the treatment of cystic fibrosis (CF) in patients age 12 months and older who have one mutation  in the CFTR gene that is responsive to ivacaftor potentiation based on clinical and/or in vitro assay data. It is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator.
  • Lumacaftor/ivacaftor (Brand name: Orkambi)lumacaftor/ivacaftor (Orkambi) received expanded approval for the treatment of cystic fibrosis (CF) in patients age 2 years and older who are homozygous for the F508del mutation in the CFTR gene.
  • Dornase alfa (Brand name: Pulmozyme®)
  • Tezacaftor and Ivacaftor combination therapy (Brand name: Symdeko)
  • Tobramycin for inhalation (Brand name: Tobi®)

Expectations (prognosis)

Disease registries now show that 40% of patients with cystic fibrosis are over age 18.

Today, the average life span for those who live to adulthood is approximately 35 years, a dramatic increase over the last three decades.

Death is usually caused by lung complications.

CFTR protein in EYFP
CFTR protein in EYFP


Complications

  • The most common complications are chronic respiratory infections.
  • Pneumonia, recurrent
  • Pneumothorax
  • Coughing up blood
  • Chronic respiratory failure
  • Cor pulmonale
  • Liver disease
  • Diabetes
  • Osteoporosis and arthritis
Cystic fibrosis foundation
Cystic fibrosis foundation

Prevention

There is no way to prevent cystic fibrosis. Screening of family members of a cystic fibrosis patient may detect the cystic fibrosis gene in between 60 and 90% of carriers, depending on the test used.

External links


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NIH genetic and rare disease info

Cystic fibrosis is a rare disease.

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