Vertex - Cystic Fibrosis (CF)
Cystic fibrosis (CF) is a rare, chronic and life-shortening genetic disease. It’s a progressive, multi-system disease that affects the lungs, liver, gastrointestinal tract, pancreas, sinuses, sweat glands and reproductive tract. In the lungs, this leads to the buildup of abnormally thick, sticky mucus that can cause chronic lung infections and inflammation, resulting in progressive lung damage and premature death in many people with CF. Other complications can include malabsorption and failure to thrive due to pancreatic disease, diabetes, liver disease, bone disease or osteoporosis, depression and anxiety. The median age of death is in the early 30s.
People with CF require a combination of treatments that address problems in their lungs, digestive system and other parts of their body. They are living longer as a result of earlier diagnosis through newborn screening and improved care. However, there’s still a significant burden for people with this disease and their families associated with treatment and regular monitoring (often through regular visits to a hospital or CF care center).
How is CF diagnosed? CF can be diagnosed through newborn screening programs or during the first few years of life. Many newborns are screened with a blood test (heel prick) taken soon after a baby is born. The diagnosis is confirmed with a sweat test. Genetic testing can identify the mutations.
What is the underlying cause of disease? CF is caused by mutations in the CFTR gene, which result in a defect and/or reduction in the amount of CFTR protein that the body makes. Children must inherit two defective CFTR genes — one from each parent — to have CF. While there are many different types of CFTR mutations that can cause the disease, the vast majority of all people with CF have at least one F508del mutation. The defective or missing CFTR protein results in poor flow of salt and water into or out of the cells in a number of organs, including the lungs. This leads to the buildup of abnormally thick, sticky mucus that can cause chronic lung infections and progressive damage to the lungs.