What is Cystic Fibrosis

Cystic fibrosis (CF) is a genetic condition characterized by the production of abnormally thick, sticky mucus, particularly in the lungs and digestive system. While it is normal to have mucus lining the organs of the respiratory, digestive, and reproductive systems in order to lubricate and protect them, in people with CF this mucus is thick and sticky. This abnormal mucus results in the clogging and obstructing of various systems in the body. CF is a chronic condition that worsens over time.

Most people with CF experience breathing problems and frequent lung infections that lead to permanent lung damage such as scarring (fibrosis) and sac-like growths (cysts). The pancreas, an organ that produces insulin and digestive enzymes, is often affected by CF. The sticky mucus caused by CF can block ducts which move enzymes from the pancreas to the rest of the body, resulting in problems such as diarrhea, malnutrition, and poor growth. Infertility, particularly in men, and delayed puberty are also common among people with CF.

The severity of symptoms varies from person to person, even among individuals with the same mutations. Most cases of CF are diagnosed in early childhood. However, in general, individuals with two classic mutations are more likely to have a severe form of the disease including problems with the pancreas, while individuals with one classic and one non-classic or individuals with two non-classic mutations are more likely to have a milder form of the condition and may avoid problems with the pancreas.

Mutations in the same gene that causes CF (the CFTR gene) can result in a condition in males called congenital absence of the vas deferens (CAVD). In CAVD, the vas deferens (a reproductive organ involved in sperm transport) is improperly formed, leading to infertility.

How common is Cystic Fibrosis?

According to the National Institutes of Health, CF is the most common deadly inherited condition among white people in the United States. Disease-causing mutations in the CFTR gene are more common in some ethnic populations than others.

How is Cystic Fibrosis Treated?

FDA approved medications are available for individuals with certain CFTR mutations. There are also many other options for treating the symptoms in everyone with CF, regardless of the mutation present. Because thick mucus can build up in the respiratory system, it is important to keep the person’s airways open in order to ease breathing and prevent infection. This can be accomplished with various prescription drugs as well as by physically loosening mucus by pounding on the person’s back in a prescribed way. This treatment, known as “postural drainage and chest percussion” must be performed by someone other than the affected person, and is typically done at least once daily. As respiratory infections occur, physicians typically prescribe antibiotics.

Physicians will also monitor the digestive system to ensure that the person is getting proper nutrition. Enzymes or vitamin supplements may be prescribed. Both the respiratory and digestive systems of a person with CF must be monitored regularly by his or her medical team.

Surgery may be needed to correct certain problems caused by CF. Lung transplants are an option for some people.

What is the prognosis for a person with Cystic Fibrosis?

Thanks to improved treatments and a better understanding of the condition, the average life expectancy for people with CF continues to increase. Among people with CF born between 2018 and 2022, half are predicted to live to 56 years of age or more. (2022 Cystic Fibrosis Foundation Patient Registry Highlights, Bethesda, MD).

Resources

• Cystic Fibrosis Foundation
  The largest non-profit devoted to CF, it has about 70 chapters and branches across the U.S. It funds research on CF, accredits CF care centers, and provides families with support and information.
  Phone: (800) FIGHT-CF (344-4823)
  [email protected]
• National Library of Medicine: Medline Plus
  Explanations of an extensive number of genetic conditions written for everyday people by the U.S. government’s National Institutes of Health.
   
• National Heart, Lung, and Blood Institute Cystic Fibrosis page
  A division of the government-run National Institutes of Health, NHLBI maintains a straightforward site with facts about CF.
  Phone: 1-877-NHLBI4U (1-877-645-2448)
  [email protected]

Other Names for Cystic Fibrosis

• Cystic Fibrosis
• CFTR-Related Disorders
• CF

Take action now to assess your risk for cystic fibrosis and your risk for passing it to your children. To get started with a JScreen genetic test, click here.

Source: Myriad Women’s Health.