Cystic Fibrosis: Symptoms, Causes, Diagnosis, Treatment & More

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July 20, 2022

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What is Cystic Fibrosis?

Cystic fibrosis (CF) is a serious hereditary disease that affects the digestive system and the lungs. In this condition, the body produces mucus that is sticky and thick and clogs the lungs, pancreas, liver, and intestine. It is a life-threatening disease that tends to shorten the affected persons life by many years. Earlier people diagnosed with this disease died even before attending school but thanks to medical advances, people live even beyond their 40's. There are many types of cystic fibrosis as there are over 2000 mutations of the gene.

Cystic Fibrosis Symptoms

The symptoms of cystic fibrosis vary based on severity and on the individual. It can appear early for some kids but for others, it can appear after puberty. The signs of this disease are:

Salty-tasting skin
Delayed growth in kids
Poor weight gain in infants
Wheezing
Persistent cough with thick phlegm
Shortness of breath
Frequent lung infections
Stuffy nose and sinus
Constipation
Nausea
Stools which are foul-smelling
Swollen abdomen
Loss of appetite and unexplained weight loss
Nasal polyps
Fleshy growths in the nose
Lung infections like bronchitis and pneumonia
Increased risk of osteoporosis and diabetes
Digestive problems as the enzymes that are used to break down food are not produced.
Malnutrition as the pancreatic functions is affected.

Who is at Risk?

The major cystic fibrosis risk factors are high in:

People who inherit a single copy of the recessive gene from both the parents. There is a 50% chance of having CF if one of the parents is a carrier and the other has CF. It can also be inherited if each of the parents has a gene mutation or CF.
It is commonly found in people of North European heritage and affects 1 in every 3000 newborns.
Women are slightly more at risk of CF than men

Cystic Fibrosis Causes

The causes of cystic fibrosis are mainly due to a defect in the gene called the cystic fibrosis transmembrane conductance regulator, CFTR.

This gene is responsible for the management of salt and water in the body cells. A mutation in this gene leads to thicker and stickier mucus than normal.
It also raises the level of salt in the sweat
This mucus then builds up in many organs of the body including the liver, lungs, pancreas, and the intestine.
The severity of the condition is determined by the defect type the CFTR gene has and is passed on to the child by their parents. To be affected by this condition, the child must inherit a copy of the gene from their parents. If only one copy is inherited then they pass it on to their children.

How is Cystic Fibrosis Diagnosed?

Cystic fibrosis diagnosis is done based on the results of the following tests:

Newborn screening is done in many places where a gene test is conducted to determine the faulty CFTR gene.
A blood test is done on the newborn to determine if the pancreas is functioning properly.
A sweat test is done to confirm CF if both blood test and genetic test suggests this disease. A small amount of sweat is tested for salt content and high levels help the cystic fibrosis doctor confirm the diagnosis.
A chest x-ray is done to get a clear picture of the heart, lungs, and blood vessels. It shows if it is scarred or inflamed.
A lung function test is done to determine the function of the lungs.
A sputum culture is done to check for the presence of bacteria called mucoid pseudomonas which means more aggressive cystic fibrosis treatment.

How is Cystic Fibrosis Treated?

There is no cystic fibrosis cure but there are various treatment options that can help in relieving the symptoms and increase the lifespan of the person affected.

Medicine for cystic fibrosis is provided that can aid in the prevention of infections from occurring. It can be in the form of injections, tablets, or capsules. Mucus thinning medications, pain reducers, and bronchodilators are also prescribed.
Bowel surgery may be performed to remove a blockage in the bowels.
A feeding tube may be fitted to supply nutrition in case of severe malnutrition.
A lung transplant may be performed to remove the damaged lung.
A chest therapy may be conducted to loosen the mucus and also add mechanical devices like a chest clapper, inflatable vest to remove mucus.

Book an appointment with our leading pulmonologist at carefit to workout various treatment options.

How can Cystic Fibrosis be Prevented?

Prevention of cystic fibrosis is not possible as it is caused by faulty genes. But effective treatment followed by the below lifestyle changes can help: