What is cystic fibrosis?
Cystic fibrosis (CF) is a genetic condition that affects how the body makes mucus, sweat, and digestive fluids. Instead of being thin and slippery, these secretions become thick and sticky.
The buildup of mucus can block airways and digestive organs, especially the lungs and pancreas. Over time, this may lead to breathing problems, infections, and difficulty absorbing nutrients from food.
CF is caused by changes in the CFTR gene. A child develops the condition only if they inherit an altered gene from both parents. Many carriers do not know they carry the gene because they do not have symptoms themselves.
Symptoms
Symptoms of CF can begin early in childhood, though they vary from person to person. Some people have mild symptoms, while others develop more serious complications over time.
Common symptoms include:
- Ongoing cough with thick mucus
- Frequent lung or sinus infections
- Wheezing or shortness of breath
- Poor weight gain or slow growth
- Greasy, bulky stools
- Belly pain, bloating, or constipation
- Salty-tasting skin
- Fatigue
- Nasal polyps or chronic sinus congestion
As CF progresses, some people may also develop diabetes, liver problems, pancreatitis, or fertility challenges.
How is it diagnosed?
Most cases of cystic fibrosis are identified through newborn screening shortly after birth. If screening results suggest CF, additional testing is done to confirm the diagnosis.
A sweat chloride test is one of the most common diagnostic tools. Providers may also use genetic testing, lung function tests, imaging studies, blood work, and sputum testing to better understand how the disease is affecting the body.
How is it treated?
There is currently no cure for cystic fibrosis, but treatment can help manage symptoms, improve quality of life, and slow damage to the lungs and digestive system.
Treatment plans often include:
- Airway clearance therapy to loosen mucus
- Inhaled medicines and mucus-thinning treatments
- Antibiotics for lung infections
- CFTR modulator medications for eligible patients
- Pancreatic enzyme supplements to aid digestion
- High-calorie nutrition plans and vitamin supplements
- Exercise and pulmonary rehabilitation
Some people with advanced lung disease may be candidates for lung transplantation. Ongoing care and regular follow-up are important for managing complications and maintaining overall health.
