Cystic fibrosis

What is cystic fibrosis?

Cystic fibrosis is a chronic, inherited, and degenerative disease that primarily affects the lungs, digestive system, and pancreas. It is caused by a genetic defect that alters a membrane protein called CFTR, which is responsible for regulating the exchange of sodium and potassium in cells. As a result, thick, sticky secretions are produced, mainly in the respiratory and digestive tracts, making breathing difficult and increasing the risk of recurrent respiratory infections, in addition to chronic digestive problems.

It is a disease with a high mortality rate, as there is no cure, and life expectancy is currently between 35 and 40 years. However, 90% of cases are now diagnosed through the newborn screening test (heel prick test) performed on babies 48 hours after birth, making it detectable and treatable from the outset.

Who is affected by cystic fibrosis?

There are 2,500 people diagnosed with cystic fibrosis in Spain, and it is one of the most common chronic lung diseases in childhood and adolescence.

Some people carry the defective gene that causes it but are considered "healthy" because they do not show any symptoms. Since it is an autosomal recessive inherited disease, a person must inherit two defective genes to develop cystic fibrosis.

Cystic fibrosis in children

Cystic fibrosis is usually diagnosed in the first few months of life thanks to newborn screening. In childhood, the disease can manifest with a persistent cough, frequent respiratory infections, difficulty gaining weight, and digestive problems.

Early diagnosis allows for the initiation of treatments that improve lung function, promote proper nutrient absorption, and support healthier growth, although they require ongoing medical monitoring.

Cystic fibrosis in adults

In some cases, symptoms are milder during childhood, and the disease is diagnosed in adolescence or adulthood. Adults with cystic fibrosis may experience further decline in lung function, chronic respiratory infections, digestive complications, and fertility problems.

At this stage, treatment is usually more intensive, combining medications, advanced respiratory therapies, and, in very severe cases, the option of lung transplantation to improve quality of life.

Symptoms of cystic fibrosis

People who develop the disease may have symptoms from birth, or develop them in adolescence or adulthood. Some symptoms may worsen as the disease progresses.

The most common symptoms are:

• Frequent pneumonia or lung infections.
• Persistent cough with thick mucus.
• Weight loss or difficulty gaining weight or height.
• Salty sweat, sometimes accompanied by dehydration.
• Inflammation of the pancreas or digestive problems.
• Abdominal discomfort and diarrhea.
• Oily stools.

To diagnose the disease, genetic testing or a sweat test is used. An elevated chloride level in the sweat test would confirm cystic fibrosis.

Treatment of cystic fibrosis

Cystic fibrosis has no cure, but treatments have evolved in recent years, increasing patients' life expectancy. Even so, it is a disease that requires continuous medical monitoring due to its complexity.

The recommended basic treatments are: mucolytics, which thin mucus and allow it to be expelled more easily; bronchodilators to open the airways and help with breathing; antibiotics to prevent and treat respiratory infections; pancreatic enzyme supplementation; and a diet tailored to include fat-soluble vitamins to prevent nutritional deficiencies. Oxygen therapy, aerosol therapy, and, as a last resort, lung transplantation are also options.

In addition, maintaining healthy habits and taking preventative measures, such as getting vaccinated against respiratory diseases, also contribute to improving patients' quality of life.