Cystic Fibrosis: Causes, Symptoms, Diagnosis, Treatment, and Prevention
The genetic disease cystic fibrosis (CF) affects the lungs, digestive system, and other organs. CF results when the body produces sticky, thick mucus, which can damage or obstruct organs. The mucus is caused by a protein that is not functioning as it should.
Causes of Cystic Fibrosis
CF is caused by a defective gene that is inherited from both parents. People with CF have two copies of this gene, one from each parent. A faulty gene affects a protein called cystic fibrosis transmembrane conductance regulator (CFTR), which controls salt and water movement within and outside of cells. Mucus becomes thick and sticky if CFTR does not work properly, disrupting the balance of salt and water.
Symptoms of Cystic Fibrosis
The symptoms of CF vary depending on the severity of the disease and the organs affected. Some common symptoms include:
-
Persistent cough that produces thick mucus
-
Wheezing and shortness of breath
-
Frequent lung infections, such as pneumonia or bronchitis
-
Sinus problems, such as nasal congestion or sinusitis
-
Poor growth and weight gain
-
Difficulty absorbing nutrients from food
-
Foul-smelling, greasy stools
-
Constipation or intestinal blockage
-
Diabetes
-
Infertility
-
Liver problems
Some people with CF may not have symptoms until later in life, or may have milder symptoms that affect only one organ.
Diagnosis of Cystic Fibrosis
Symptoms of cystic fibrosis can be detected at birth through newborn screening tests that look for high levels of a chemical called immunoreactive trypsinogen (IRT) in the blood, which indicates a possible pancreatic problem. Another test called a sweat test is used to determine the amount of salt in the sweat if the IRT level is high. The sweat of people with CF is higher than normal in salt.
Other tests that can help diagnose CF include:
-
Genetic tests that look for the faulty gene that causes CF
-
Chest X-rays or CT scans that show lung damage or infection
-
Lung function tests that measure how well the lungs work
-
Sputum culture that identifies the bacteria causing lung infection
-
Pancreatic function tests that measure how well the pancreas produces digestive enzymes
-
Blood sugar tests that check for diabetes
Treatment of Cystic Fibrosis
Treatment for cystic fibrosis involves a combination of medications, therapies, and lifestyle changes. Some of the main aspects of treatment include:
-
Antibiotics to treat or prevent lung infections
-
Mucolytics to thin the mucus and make it easier to cough up
-
Bronchodilators to relax the airways and improve breathing
-
Anti-inflammatory drugs to reduce swelling and inflammation in the lungs
-
Pancreatic enzyme supplements to help digest food and absorb nutrients
-
Vitamin supplements to prevent deficiencies
-
Insulin or oral medications to control blood sugar levels
-
Chest physiotherapy or airway clearance devices to loosen and clear mucus from the lungs
-
Exercise to improve lung function and overall health
-
Oxygen therapy or lung transplant for severe cases of lung damage
Prevention of Cystic Fibrosis
Cystic fibrosis cannot be prevented, but some steps can be taken to reduce the risk of complications and improve quality of life. These include:
-
Getting regular check-ups and vaccinations to monitor and protect health
-
Following a high-calorie, high-protein diet to maintain weight and energy levels
-
Drinking plenty of fluids to stay hydrated and thin the mucus
-
Avoiding tobacco smoke and other irritants that can harm the lungs
-
Practicing good hygiene and washing hands frequently to prevent infections
-
Seeking emotional support from family, friends or professionals to cope with stress and challenges
