Cystic Fibrosis: Causes, Symptoms, Diagnosis & Treatment in India

Cystic Fibrosis: Causes, Symptoms, Diagnosis & Treatment in India

Reviewed By

Dr. Evangeline Priscilla (BPT)


1 in 10,000 children born in India suffers from cystic fibrosis. This means that over 3000 children are born with CF in India every year. Cystic fibrosis is a fatal and life-limiting condition that creates a slew of issues in children who are born with it. Almost all racial groups, regardless of geographical provenance, have some prevalence of Cystic Fibrosis in their population.

We believed that CF didn't exist in India, but it does. With a massive population and poverty present in many parts of the country, people don't have enough to eat or otherwise have access to the right kinds of foods to make them healthy.

What Is Cystic Fibrosis?

It is a genetic (since birth from parents or ancestors) disorder that causes severe damage to the lungs, digestive system( pancreas, liver, intestines), and other organs in the body. It affects the cells that produce mucus, sweat, and digestive juices.

  • Cystic fibrosis affects the way the body makes mucus(mucus is a sticky, gelatinous material that lines the lungs, throat, mouth, nose, sinuses, and other organs to trap bacteria, viruses, and allergens like dust or pollen in the nose and prevent them from spreading through the body and causing sickness)

  • The mucus should be thin and slippery normally, but in CF it becomes thick and glue-like. This dries out and blocks tubes and ducts throughout the body 

  • Over time, this thick mucus builds up inside the airways. This makes breathing difficult. The mucus traps germs and leads to infections. 

  • It can also cause severe lung damage like cysts (fluid-filled sacs) and fibrosis (scar tissue).


  • Cystic fibrosis is caused by a change, or mutation, in a gene called CFTR (cystic fibrosis transmembrane conductance regulator). 

  • This gene controls the flow of salt and fluids in and out of the cells.

  • If the CFTR gene doesn’t work the way it should, sticky mucus builds up in the body.


The majority of the other CF symptoms impact the digestive and respiratory systems.

1. Respiratory Symptoms of Cystic Fibrosis:

  • Whistling sound during breathing

  • Sinus issues (Blocked nose and swelling of the nasal passage)

  • recurring infections in the lungs

  • Continuous cough formation 

  • Thick mucus( red, brown, or green colored mucus)

  • chronic hypoxia

2. Digestive Symptoms of Cystic Fibrosis:

  • Improper growth and weight drop

  • Stinky and sticky stools

  • Severe constipation

  • Abdominal distention (swelling of the abdomen caused by either air (gas) or fluid collection.

  • Rectal prolapse

  • Pain in passing stool

3. Other symptoms

  • dehydration, increased heart rate, fatigue, weakness, and low blood pressure.

  • Skin that tastes very salty


If the symptoms of cystic fibrosis are not treated immediately it can lead to complications affecting various organs in the body

  • Damaged airways 

  • Chronic infections(bronchitis or pneumonia)

  • Coughing up blood

  • Pneumothorax( air leaks outside the lungs referred to as collapsed lung)

  • Respiratory failure

  • Diabetes

  • Liver disease(jaundice,fatty liver)

  • Kidney disorders(kidney stones, mineral globs)

  • Urinary bladder muscles weakness

  • Infertility in men, Reduced fertility in women

  • Thinning of the bones 

  • Mental health problems (fear, depression, and anxiety)


  • Newborn screening: 

    Blood samples are collected at birth and a few weeks later that looks for a list of conditions including CF

  • Blood test:

    This test checks the levels of immunoreactive trypsinogen (IRT). People with CF have higher levels of it in their blood.

  • DNA test:

    This looks for mutations to the CFTR gene.

  • Sweat test:

    It measures the salt in your sweat. Higher than normal results suggest CF

  • Other tests include a CT scan to assess organ damage, sputum testing to determine lung infection, a PFT (Pulmonary Functioning Test) to check for abnormalities in oxygen transport, and a chest X-ray to determine lung swelling.


There’s no cure for cystic fibrosis however, CF management aims to:

  • Ensure optimal growth and development

  • Delaying progress of lung disease

  • Preventing and treating complications

  • Normal lifestyle

  • Patient and family education

  • Recognition and treatment of psychological complications

1. Medications

Various drug categories advised by doctors in treating CF based on the symptoms are antibiotics, anti-inflammatory drugs, bronchodilators, mucus thinners, CFTR modulators, digestive and pancreatic enzymes, stool softeners, vitamins.

2. Diet

  • High-calorie, high-fat diet is advised for people diagnosed with CF

  • People with cystic fibrosis have nutritional needs that aren’t the same as the needs of people without CF. They may need 1.5 to 2 times the number of calories as people without CF because more energy is required than other people to breathe, fight lung infections and maintain your strength

  • Another common misbelief is that salt is unhealthy for children and adults with CF. People with CF lose a lot of salt in their sweat therefore salt intake is advised by the doctor or dietician.

3. Surgery

Sometimes CF causes problems that can only be fixed by surgery or another type of medical procedure. These might include Sinus surgery, Feeding tube, Bowel surgery, Lung transplant etc.

4. Physiotherapy

The aim of physiotherapy is to prevent people from having trouble breathing and to help them exercise using various methods. Cystic fibrosis physiotherapy protocol includes the following airway clearance techniques:

i) Chest physiotherapy:

A person suffering from CF will require intensive chest physiotherapy. This will include the following:

a) Vigorous massage: to help loosen the sticky mucus

b) Postural drainage: gravity-assisted positions to help drainage of secretions and also helps to increase the air movement or ventilation to different parts of the lungs.

c) Percussion: This technique is also known as chest clapping, and is used to help loosen secretions. To perform this technique a cupped hand is used to clap the chest firmly and rhythmically (over a layer of clothing or a towel). 

d) Shaking and Vibrations: This technique consists of several short rhythmical squeezes to the chest while breathing out to mobilise secretions.

Regular assessment and monitoring are necessary during physiotherapy treatment as the patient may require supplemental oxygen, especially in advanced cystic fibrosis.

ii)  Breathing techniques

Active cycle of breathing(ACBT):

This technique consists of Breathing Control (BC), Thoracic Expansion Exercises (TEE), and Forced Expiration Technique (FET).

a. Breathing Control (BC):

Relaxed diaphragmatic breathing allows for rest and helps avoid any tightening of airways, which can make it difficult to clear secretions.

b. Thoracic expansion exercises (TEE):

Deep breathing exercises that help the lungs to expand more effectively and allow air to get behind secretions so that they can be "pushed" up the airways towards the mouth. The breaths should be slow and deep with a pause at the end of inspiration then followed by relaxed quiet expiration.

c. Forced Expiration Technique (FET):

This consists of huffing or a sigh, to help move secretions from the smaller to the larger airways from where they can be cleared more easily.

Pursed lip breathing:

A type of breathing where pursing the lips can help slow down breathing and make each breath more effective.


 iii) Positive expiratory pressure(PEP): 

PEP is a technique that helps to open up airways and get air behind secretions to help move them higher up the airway. The PEP device (mask or mouthpiece) gives a small degree of resistance to the breath out and this resistance splints open the airways.

iv) Incentive spirometry

Incentive spirometer is a medical device that facilitates sustained maximal breathing with incorporated visual indicators of performance.

Studies found that spirometry has the potential to reduce pressure in the chest cavity and lower the chance of central airway collapse.

v) Exercises

  • Aerobic exercises

    Activities like running, Skipping, Trampolining, Badminton, Football, Basketball helps in maintaining and enhancing overall health and fitness.

  • Stretching exercises:

    Helps in maintaining and increasing flexibility

  • Strengthening exercises

    Helps in improving strength and endurance. This type of activity generally involves free weights, weight machines, rubber exercise bands, or calisthenic (your own body weight) exercises that use multiple large muscle groups. Pelvic floor strengthening exercises help CF patients with urinary or stool leaks when coughing and/or exerting themselves.

  • Posture exercises

    Exercises like yoga, pilates, Gym ball exercises help improve posture by maintaining mobility of the joints and muscles.

Home Remedies

Several home remedies can also be practised at home to tackle the symptoms of cystic fibrosis along with proper medical management under medical supervision.

  • Drink plenty of fluids, because they can help thin the mucus in the lungs.

  • Exercise regularly to help loosen mucus in the airways. 

  • Avoid smoke, pollen, and mould whenever possible. These irritants can make symptoms worse.

  • Practice steam therapy regularly

  • Intake of antacids, multivitamins, and a diet high in fiber and salt as per doctor's advice.


While there is no absolute cure for cystic fibrosis, physiotherapy treatments and medications can reduce symptoms and help patients extend their lives.

CF patients must follow a balanced diet and practise regular exercise to lead a healthy lifestyle.

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