Cystic Fibrosis (CF): Symptoms, Diagnosis and Treatment

What is cystic fibrosis?

Cystic fibrosis (CF) is an inherited condition caused by changes in the CFTR gene. This gene controls the movement of salt and water across the lining of the airways, gut, pancreas and sweat glands. When it does not work properly, secretions become thick and sticky. In the lungs, mucus blocks the small airways and traps bacteria, causing repeated infections, inflammation and progressive damage known as bronchiectasis.

CF is rare in India and is very probably under-diagnosed, partly because there is no routine newborn screening and partly because its symptoms overlap with malnutrition, recurrent pneumonia and tuberculosis. Some people with milder gene changes are only diagnosed as adolescents or adults.

Children are managed jointly with paediatric pulmonology and paediatric gastroenterology, and adults continue with a coordinated team that includes dietitians and physiotherapists.

Symptoms of cystic fibrosis

Symptoms vary with the gene changes involved and with age.

In infants and children

• Persistent wet cough and repeated chest infections or pneumonia
• Poor weight gain despite a good appetite
• Bulky, greasy, foul-smelling stools due to poor fat absorption
• Very salty-tasting skin, often noticed by parents when kissing the child
• Bowel blockage at birth (meconium ileus) or rectal prolapse

In adolescents and adults

• Chronic productive cough and bronchiectasis
• Nasal polyps and chronic sinusitis
• Recurrent pancreatitis, diabetes or liver disease
• Male infertility due to absence of the vas deferens

Causes and inheritance

CF is an autosomal recessive condition. A child is affected only when both parents pass on a faulty copy of the CFTR gene. Parents who each carry one faulty copy are usually healthy carriers, and with each pregnancy there is a one-in-four chance that the child will have CF.

Hundreds of CFTR gene variants are known, and the variants seen in Indian patients differ in part from those common in Europe. Knowing the exact variants matters, because it determines eligibility for CFTR modulator medicines and informs genetic counselling for the wider family.

How cystic fibrosis is diagnosed

CF is diagnosed when symptoms or a family history suggest it and tests confirm abnormal CFTR function.

Adults with unexplained bronchiectasis, especially in the upper lobes, recurrent Pseudomonas infection, nasal polyps or male infertility should be considered for CF testing. Other causes of bronchiectasis, such as primary ciliary dyskinesia and allergic bronchopulmonary aspergillosis, are assessed alongside.

Cystic fibrosis treatment

CFTR modulators

CFTR modulators are medicines that improve the function of the faulty CFTR protein itself. The triple combination of elexacaftor, tezacaftor and ivacaftor has transformed care for people with eligible gene variants, improving lung function, weight and quality of life and reducing exacerbations. Eligibility depends on the patient's CFTR variants and age, and access in India is evolving, so this is discussed individually.

Airway clearance

Daily chest physiotherapy, using techniques such as the active cycle of breathing, oscillating devices and exercise, remains the foundation of lung care. Inhaled hypertonic saline and dornase alfa help thin and loosen mucus.

Treating infection

Chest infections are treated promptly with antibiotics guided by sputum culture. Early Pseudomonas infection is treated with the aim of eradication, and chronic infection may be managed with inhaled antibiotics and azithromycin.

Nutrition and other organs

Pancreatic enzyme supplements with meals, a high-calorie diet, fat-soluble vitamins and salt replacement in hot weather (particularly relevant in Hyderabad summers) support growth and health. CF-related diabetes, liver disease and bone health are monitored. Patients with advanced lung disease are referred for lung transplant assessment.

Outlook and living with cystic fibrosis

Survival and quality of life in CF have improved steadily, and many people now live well into adulthood, work and have families. Outcomes depend heavily on early diagnosis, consistent daily treatment, nutrition and regular review, ideally every three months.

Infection control is important: people with CF should not share nebulisers or spend close time with others who have CF, to avoid passing bacteria between them. Annual influenza vaccination and avoidance of tobacco smoke are strongly advised. Genetic counselling is offered to parents and siblings planning a family.

When to seek urgent care

Seek urgent medical attention for coughing up more than a small amount of blood, sudden sharp chest pain with breathlessness (which may be a collapsed lung), rapidly increasing breathlessness or falling oxygen levels, high fever, severe abdominal pain with vomiting or no bowel movement, or signs of dehydration such as dizziness and very little urine, particularly in hot weather.

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