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What is Cystic Fibrosis

  • Published on August 12, 2022
What is Cystic Fibrosis

Cystic fibrosis definition 

What is cystic fibrosis? It is a genetic disorder that causes thick mucus to build up in different organs. A defective gene leads to an abnormal protein. This affects the cells that produce mucus, sweat, and digestive juices. 

The mucus plays an important role in protecting the linings of the breathing airways, the digestive pathway, and other organs and tissues.

Usually, mucus is slippery in consistency. Cystic fibrosis causes the cells to produce thick, sticky mucus. This thick mucus may block or cause damage to organs. It can block pathways and ducts in the body instead of lubricating them. This affects and clogs organs like the lungs, pancreas, and intestines. 

Symptoms of cystic fibrosis

Cystic fibrosis affects various organs of the body and causes a variety of symptoms, which may include the following: 

  • Sinusitis or sinus infections
  • Nasal polyps (growths inside the nose)
  • Clubbed fingers and toes
  • Lung failure 
  • Excessive coughing, a recurrent cough, or coughing up blood 
  • Pain in the abdomen 
  • Excess gas 
  • Liver disease
  • Diabetes
  • Inflammation of the pancreas, leading to pain in the abdomen
  • Gallstones
  • Infertility in men due to congenital anomaly 
  • Reduced fertility in men and women
  • Wheezing or short breaths
  • Lung infections
  • Inflammation or congestion in the nose 
  • Greasy stools
  • Stools with a strong odour 
  • Constipation or diarrhoea 
  • Skin that smells or tastes like salt

Complications of Cystic Fibrosis 

Cystic fibrosis can affect any organ in the body. The complications may vary from one person to another based on the severity of cystic fibrosis. However, some of the common complications of cystic fibrosis are- 

  • Difficulty in breathing
  • Abnormal growths in the nostrils or nasal polyps
  • Chronic lung infection
  • Blockage in intestines
  • Fertility issues in men and women
  • Osteoporosis is when the bones become thinner
  • It increases the risk of diabetes
  • Hemoptysis (Coughing up blood)
  • Liver diseases such as jaundice, gallstones, fatty liver and cirrhosis

Causes of cystic fibrosis

Cystic fibrosis is caused by a defective gene. This genetic abnormality is known as a gene mutation.

The specific mutated or defective gene is called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This mutated gene causes a change in a protein. The protein is responsible for regulating the flow of salt in and out of cells. 

In cystic fibrosisgenetics play an important role. A person with cystic fibrosis inherits one copy of the faulty gene from each parent. You need two copies of the mutated gene from each parent to get the condition.

Your parents can carry the gene without having the disorder. This is because the gene itself does not always result in cystic fibrosis symptoms. A person who has the gene but does not have cystic fibrosis is known as a carrier. 

Diagnosis of cystic fibrosis

Different kinds of screening tests are used to diagnose this disorder. A cystic fibrosis diagnosis can also be performed at birth or during childhood.

The diagnostic tests used to check for cystic fibrosis include:

Newborn screening

The doctor will take a few drops of blood from the newborn baby’s heel and test it for cystic fibrosis

Sweat test

This test measures the amount of chloride in the body’s sweat. Chloride levels are higher in people who have cystic fibrosis

Genetic tests

These tests involve taking blood samples and testing them for the defective genes that cause cystic fibrosis.

If you have no symptoms, genetic tests can check if you are a carrier of the defective gene. If you have symptoms, genetic tests can be used to support a diagnosis. There are multiple mutations of the gene, and any of the mutated genes will indicate if you have it. 

Genetic tests are especially advised when there is a family history of cystic fibrosis. It is useful for prenatal testing for couples who are going to have a child. 

Chest X-rays

Chest X-rays will need to be taken along with other tests to confirm cystic fibrosis.

Sinus X-rays

Sinus X-rays can be used to confirm or support a diagnosis of cystic fibrosis in people who show symptoms.

Lung function test 

This test is usually performed with a device called a spirometer. It is used to check whether your lungs are functioning properly. 

Sputum culture 

Your doctor will take a sample of your saliva and test it for certain bacteria that are usually present if you have cystic fibrosis

Treatment of cystic fibrosis

There is no known cure for cystic fibrosis. However, the symptoms can be managed, reduced, and treated. 

Cystic fibrosis treatment is usually directed at the affected parts of the body, such as the lung or respiratory problems, intestines, or digestive issues. 

Management of respiratory problems

Lung or respiratory problems may be managed through:

  • Practices to improve your breathing 
  • Physical therapy to help drain mucus from the lungs 
  • Regular exercise to stimulate coughing and bring out the mucus 
  • Medications to thin the mucus to ease your breathing 
  • Antibiotics for infections
  • Anti-inflammatory medication to reduce inflammation in the breathing airways 

Management of digestive problems

Digestive issues caused by cystic fibrosis can be managed through: 

  • Engaging in a conscious diet
  • Taking pancreatic enzymes to support digestion
  • Taking vitamin supplements
  • Treating your intestines to help unblock them 


You may need surgery for cystic fibrosis in case of complications. These surgical treatments could include: 

  • Surgery involving your nose or sinuses
  • Bowel surgery to get rid of blockages 
  • Surgery for transplant of organs like the lung or liver 

Fertility treatments

Cystic fibrosis can cause reduced fertility in men and women. This is because the reproductive systems are affected or clogged by the thicker mucus.

Men may be born without the vas deferens, leading to infertility. Fertility treatment is thus a viable option for couples who face fertility issues due to this disorder. 


If you have cystic fibrosis, it is recommended to see a specialist at the earliest and get the treatment you need.

The treatment will focus on keeping your airways open if you have breathing issues. If you have digestive issues, the treatment will focus on managing the symptoms to help digestion, avoid discomfort, and unblock the digestive tract.

For issues with the reproductive system and fertility, a gynaecologist or fertility specialist will be able to help you find the right course of treatment. 

To avail of the best fertility treatment for cystic fibrosis, visit Birla Fertility and IVF or book an appointment with Dr. _______.


1. What is one of the first signs of cystic fibrosis?

A taste of salt on the skin is one of the first signs of cystic fibrosis

2. Can cystic fibrosis be cured?

There is no known cure for cystic fibrosis. However, the symptoms can be managed and treated. 

3. How painful is cystic fibrosis?

Cystic fibrosis may not always result in painful symptoms. However, it can be very painful in certain cases.

In the case of intense and excessive coughing, it can be very excruciating and may lead to coughing out blood or even lung collapse.

Inflammation of the pancreas (pancreatitis) can cause severe pain in the stomach region. Very thick stools may cause pain in the rectum and may even cause rectal prolapse (where the lower end of the bowel or large intestine comes out of the anus) due to excessive straining. 

4. How is cystic fibrosis detected?

Cystic fibrosis is detected by a combination of different diagnostic tests.

These could include testing parts of the body that are affected, such as the lungs and intestines, along with a chest X-ray.

It could also include a sweat test to check chloride levels. Genetic testing can support a diagnosis to check for the defective gene that causes cystic fibrosis.

Written by:
Dr. Anjali Chauhan

Dr. Anjali Chauhan

Dr. Anjali Chauhan is a fertility specialist with over 6 years of experience and has performed more than 100+ IVF cycles. She specializes in laparoscopy, hysteroscopy, and minimally invasive surgeries for complex infertility cases.
Preet Vihar, Delhi

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