Cystic fibrosis, a life-threatening condition, is caused by mutations or changes in a gene known as the cystic fibrosis transmembrane conductance regulator (CFTR). Persistent coughing, frequent lung infections, wheezing, and difficulty breathing are some of its symptoms. There is no cure for this inherited disease, but there are ways to manage it. There are medications, therapies and diet for people with cystic fibrosis. Find out all about cystic fibrosis, which affects the body in different ways.

What is cystic fibrosis?

Cystic fibrosis is a genetic disease that affects the respiratory, digestive, and reproductive systems, says pulmonologist Dr Dharit Shah. People with cystic fibrosis suffer from a CFTR gene mutation, which leads to the malfunction of the CFTR protein. This protein is located in the organs that produce mucus. The list includes the lungs, pancreas, liver, sweat glands, and intestines. When this protein does not function properly, thick and sticky mucus gets produced. This causes blockages and attracts germs, leading to infections.

What are the causes of cystic fibrosis?

There are approximately 70,000 people with cystic fibrosis in the world, and it is most common in Caucasians, according to the American Lung Association. It is an autosomal recessive disorder, which means a person needs to inherit two defective copies of the CFTR gene (one from each parent) to develop the condition.

What are the symptoms of cystic fibrosis?

Here are some signs of cystic fibrosis:

• Persistent coughing
• Frequent lung infections (like pneumonia and bronchitis)
• Wheezing
• Difficulty breathing
• Poor weight gain
• Greasy and bulky stools
• Trouble absorbing nutrients
• Salty-tasting skin
• Reduced female fertility

How is it diagnosed?

There are a few tests for cystic fibrosis:

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1. Immunoreactive Trypsinogen (IRT) Test

This is the primary blood test used for newborn screening, says Dr Shah. High levels of IRT, a protein made by the pancreas, can indicate CF. But further testing is required for diagnosis, as the IRT level can be high due to premature delivery too.

2. DNA analysis

If the IRT levels are high, a DNA test is usually done to look for common mutations in the CFTR gene. This test can identify many of the common CF mutations.

3. Genetic testing

For people who may be carriers of CF or who are planning to have children, genetic testing can identify whether they carry a CFTR mutation. This involves taking a blood sample and analysing it for known CFTR mutations.

4. Sweat test

While not a blood test, the sweat chloride test is a definitive diagnostic test for CF. It measures the amount of chloride in the sweat, which is elevated in people with CF, says the expert.

5. Chorionic Villus Sampling (CVS) or Amniocentesis

These tests can be done during pregnancy to determine if the baby has CF. This is done by analysing cells from the placenta or amniotic fluid for CFTR mutations.

These tests help in early diagnosis and management of cystic fibrosis, which can significantly improve the quality of life of those affected by this disease.

How to treat cystic fibrosis?

There is no cure, but treatment options are available. Due to improved care, the average life expectancy is now close to 40 years, as per the American Lung Association. Here are some treatment options:

1. Medications

Antibiotics may be given to fight infections, and anti-inflammatory drugs, bronchodilators to open airways. There are CFTR modulators to correct the defective protein function, says the expert.

2. Chest physiotherapy

Chest physiotherapy (CPT), also known as airway clearance therapy (ACT), is an essential component of the management plan for people with cystic fibrosis (CF). It helps to clear mucus from the lungs, reducing the risk of lung infections and improving respiratory function.

3. Nutritional support

A well-balanced and nutrient-rich diet is crucial for people with cystic fibrosis to manage their condition. CF affects the digestive system, particularly the pancreas, which can lead to difficulties in digesting and absorbing nutrients. Eat high-calorie diets, pancreatic enzyme supplements to aid digestion, says the expert. People with CF often require more calories than those without the condition due to increased energy needs from breathing difficulties and chronic infections. Healthy fats such as those from nuts, seeds, and olive oil should be included in diet. Even saturated fats from dairy and meats should be added to diet due to their calorie density. Fat-soluble vitamins (A, D, E, and K) are often deficient due to malabsorption, so these should be taken.

4. Pancreatic Enzyme Replacement Therapy (PERT)

Many people with CF require PERT to help in the digestion and absorption of fats, proteins, and carbohydrates, says the expert. Enzymes should be taken with all meals and snacks that contain fat.

Cystic fibrosis is a life-shortening condition that can be managed by following a diet mostly high in healthy fats and calories. There are also medications that are included in the treatment plan the genetic disease.