Cystic fibrosis (CF) is a genetic condition that causes breathing challenges and chronic digestive issues among other symptoms. It results from a gene mutation that leads to the buildup of thick, sticky mucus in the lungs and other organs, causing damage over time. The likelihood of developing CF is higher if you are of European descent, but the condition is rare, affecting about 38,000 people in the U.S.
CF is a lifelong, progressive disease that gets worse over time and can lead to severe complications. While it was once seen as a tragic condition for children, advances in treatments have significantly improved outcomes. Although those with CF still have a lower life expectancy than average, many now live into adulthood with a better quality of life.
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which helps regulate salt and water balance in the body by moving chloride ions out of cells. Researchers have found over 2,000 CFTR mutations, categorized into five classes.
Signs of CF can show up in newborns and infants, impacting organs like the lungs, intestines, and pancreas. Symptoms usually appear in the first 6 to 8 months of life, while in adults, the mucus buildup mainly affects the lungs, causing scarring, cysts, and potentially lung failure. The disease also impacts other organs, such as the intestines, liver, and pancreas, leading to additional symptoms.
CF is hereditary and passed down from parents to children. Both parents must carry the CFTR gene mutation for a child to develop the disease. If only one parent has the gene, the child might not have symptoms but could still pass CF to the next generation. The severity of symptoms can vary due to several factors.
Diagnosing CF typically involves multiple steps and occurs soon after birth, thanks to genetic tests and newborn screenings. These tests aim to identify the root cause of symptoms and rule out other conditions like asthma or celiac disease.
Treatment focuses on managing symptoms and improving the function of affected organs, as there is no cure for CF. This involves a comprehensive approach led by a specialized care team, including pediatricians, lung specialists, and nutritionists. Airway clearance techniques help loosen and expel mucus from the lungs, while medications improve breathing, clear mucus, combat infections, and enhance CFTR protein function. In severe cases, breathing support or surgeries like lung or liver transplants might be necessary.
For digestive issues, healthcare providers recommend a high-calorie and balanced diet. While you can’t prevent CF due to its genetic nature, potential parents can undergo genetic testing to understand the risks of passing the gene to their children. Prenatal screening may also detect some types of CF but comes with risks to fetal health.
CF increases the risk of other conditions and severe complications. Despite the challenges, modern therapies have extended life expectancy. Half of the children diagnosed today might live into their 50s. New treatments targeting the CFTR gene offer hope for improved management, but living with or caring for someone with CF can be emotionally taxing. Support strategies are essential for those affected.
Cystic fibrosis, present from birth, is usually diagnosed by age two, though milder forms might not show symptoms until later. Adult-onset CF is rare and tends to affect just one organ. People with CF are more susceptible to lung infections, often from bacteria passed via respiratory droplets. Maintaining a six-foot distance from others with CF can help reduce the risk of co-infection.
