Cystic fibrosis is a progressive genetic disease that affects the lungs, pancreas, and other organs.
While cystic fibrosis is generally a rare condition, it is one of the most common inherited diseases, particularly in Europe. Approximately four percent of the population carries a gene defect that can lead to cystic fibrosis, but it only develops if both parents pass on this genetic mutation. This occurs in about one out of every 2,700 newborns. There are now more adults with cystic fibrosis than children, indicating improved survival rates.
Cystic fibrosis only develops when both parents have passed on the gene affected by a mutation. Healthy individuals with one altered gene do not develop cystic fibrosis but can pass on the predisposition to their children. Cystic fibrosis is a progressive genetic disease that aff Cystic fibrosis is a progressive genetic disease that affects the lungs, pancreas, and other organs. ects the lungs, pancreas, and other organs.
Just a few decades ago, the life expectancy of individuals with cystic fibrosis rarely exceeded twenty years. Today, thanks to modern treatment methods, including treatment in Switzerland, many people with cystic fibrosis live more than twice as long. Cystic fibrosis is a progressive genetic disease that affects the lungs, pancreas, and other organs. Cystic fibrosis is a progressive genetic disease that affects the lungs, pancreas, and other organs.
Thanks to newborn screening, cystic fibrosis can be diagnosed within the first month of life before symptoms appear. However, for individuals born before newborn screening was available, the diagnosis may not be made until symptoms and signs of cystic fibrosis become evident.
Symptoms and signs of cystic fibrosis vary in severity. Even within the same person, symptoms can worsen or improve over time. Some people may not experience symptoms until adolescence or adulthood. People who are not diagnosed until adulthood typically have a milder course of the disease and are more prone to atypical symptoms, such as recurrent pancreatitis, infertility, and recurrent pneumonia. infertility and recurrent pneumonia.
In individuals with cystic fibrosis, the salt level in their sweat is higher than normal. Parents often notice a salty taste when they kiss their children. Most other symptoms and signs of cystic fibrosis affect the respiratory and digestive systems.
People with atypical cystic fibrosis may not be diagnosed until they are adults. Respiratory symptoms and signs may include:
Other symptoms and signs of atypical cystic fibrosis may include:
In most cases, CF is diagnosed in childhood. Doctors diagnose cystic fibrosis through a careful evaluation and the use of various tests, including:
In people with atypical cystic fibrosis, the sweat test may appear normal in terms of chloride levels. Some people with atypical cystic fibrosis may have been born before testing became routine.
If you or your child has symptoms of cystic fibrosis, or if someone in your family has cystic fibrosis, talk to your doctor about testing for this condition. Consult with a doctor who is knowledgeable about cystic fibrosis.
Cystic fibrosis requires regular and ongoing medical monitoring, at least every three months. See a doctor if you experience new or worsening symptoms, such as an increased amount of mucus, changes in mucus color, lack of energy, weight loss, or severe constipation.
Seek immediate medical help if you cough up blood, experience chest pain or difficulty breathing, severe abdominal pain, and bloating.