Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disease that originates in the mucus and sweat glands, but which affects the entire body, leading to severe damage to the lungs and digestive system. It is the most common fatal genetic disease in people of European descent, but also occurs in Hispanics, African-Americans and some Native Americans. It is rare in people of Asian and Middle Eastern origin. CF affects 30,000 people in the U.S. and 70,000 worldwide. Moreover, approximately 1,000 new cases are diagnosed each year, and more than 70% of these cases involve patients under the age of two.

Symptoms of CF include salty-tasting skin, frequent lung infections, and bowel difficulties. The organs which are most at risk from the disease are the lungs, liver, intestines, pancreas, sinuses, and the sex organs. Normal mucus is watery, and serves to moisten the linings of the body’s organs. In patients with CF, however, an abnormal gene causes mucus to thicken and become sticky. The sticky mucus builds up in the lungs and blocks air flow, which enables bacteria to flourish, thus causing infection. These infections eventually cause serious damage to the lungs. Indeed, respiratory infections account for the majority of cystic fibrosis deaths.

CF can also lead to mucus blocking the ducts in the pancreas. Because of this, the digestive enzymes produced by the pancreas cannot reach the small intestine and assist in breaking down food. When this happens, the intestines are unable to absorb fats and proteins, leading to malnourishment and vitamin deficiencies.

The severity of symptoms can vary greatly, with some sufferers enduring a great deal of pain from an early age and others experiencing milder symptoms, which may not manifest until adolescence or young adulthood. 

Although CF requires daily care, most people with the condition are able to attend school and work, and have a better quality of life than in previous decades. Recent improvements in screening and treatments mean most people with cystic fibrosis now live into their 20s and 30s, and some are living into their 40s and 50s.