What is Cystic Fibrosis?

What is Cystic Fibrosis?

Cystic fibrosis is a chronic disease in which the protein product of a defective gene produces thick and sticky mucus, which clogs the lungs and prevents the pancreas from helping the body break down food.

Symptoms of cystic fibrosis include:

  • Salty tasting skin
  • Persistent coughing, often with phlegm
  • Wheezing and shortness of breath
  • Lack of growth or weight gain
  • Difficulty with bowel movements
  • Frequent lung infections due to the buildup of thick mucous

Cystic fibrosis, also called CF, affects mostly the lungs and the pancreas. When mucus builds up in the lungs, it causes difficulty breathing, and as it gets stuck in the airways, it causes inflammation and possible infections. The mucus also builds up in the digestive tract and pancreas, which prevents enzymes from getting to the intestines. These enzymes are needed to break down food, and the blockage of these enzymes is what causes the difficulty with bowel movements.

CF is a genetic condition, which means it is inherited from parents; a person with CF must inherit two copies of the defective gene, one from each parent.

Cystic fibrosis affects about 70,000 people worldwide, and about 1,000 new cases are identified each year. Most children with CF are diagnosed by age 2, so receiving care from an early age is likely. Diagnosis typically happens from a test at birth, and the sweat test (testing the amount of salt in a child’s sweat) is the standard procedure for determining if a person has CF. A genetic test may also be done if the results from a sweat test are inconclusive.

CF is a lifelong condition, and children with the disease historically did not survive past their teenage years; with today’s advances in research and treatment, individuals with CF can live past their 30s and 40s. There is no cure for cystic fibrosis, but drug treatments, therapies, and altered diets can help people with CF live longer and healthier. Pancreatic enzyme treatments help the body break down food, and performing airway clearance multiple times a day is often necessary. Mucus thinners can help make it easier to cough out the mucus.

The potential for gene therapy (adding enough affective genes to override the defective ones) is an ongoing area of CF research, and the scientific community hopes to find better treatments and an eventual cure for cystic fibrosis.

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