What Is Cystic Fibrosis? Symptoms, Diagnosis & Treatment

Cystic fibrosis is a genetic condition that results in the build-up of thick and sticky mucus in the lungs and cysts and scarring in the pancreas. This thick mucus blocks airways and ducts, making it hard to breathe or digest food. Cystic fibrosis is a progressive medical condition that can also affect the liver, intestines and reproductive organs.

What is Cystic Fibrosis?

The CF meaning is cystic fibrosis. It is an inherited condition that causes damage to the digestive and respiratory systems of the body. It affects the cells that make mucus, digestive juices and sweat. Individuals with cystic fibrosis experience choked up pathways in the lungs and pancreas.

What are the types of Cystic Fibrosis?

There are two types of cystic fibrosis:

1. Classic Cystic Fibrosis: It’s diagnosed in the initial years of the individual’s life and affects multiple organs.
2. Atypical Cystic Fibrosis: Mostly found in older children or adults, it’s a milder version of the disease that affects only one organ.

What are Cystic Fibrosis Symptoms?

Some of the common Cystic Fibrosis symptoms include:

1. Troubled breathing
2. Recurrent pneumonia and lung infections
3. Sinus infections, stuffy nose
4. Foul-smelling stools, severe constipation
5. Limited energy to do work
6. Wheezing sounds when breathing
7. Thick mucus in the cough
8. Intestinal blockages

Those who have atypical cystic fibrosis might experience similar symptoms. In addition, they can also have the following symptoms:

1. Nasal polyps
2. Chronic sinusitis
3. Dehydration or heat stroke
4. Unexpected weight loss
5. Diarrhea

What Causes Cystic Fibrosis?

Cystic fibrosis happens because of mutations or changes in the CFTR gene, which is responsible for making a protein. This protein regulates the flow of water and salt in and out of the cells. When the CFTR gene is faulty, it produces thick mucus instead of thin, slippery fluid. This causes blockages and damage to organs like the lungs and pancreas. As cystic fibrosis is a genetic condition, family history is a risk factor.

Some complications that can occur due to cystic fibrosis symptoms are:

1. Damaged airways
2. Nasal polyps in the nose
3. Coughing up blood
4. Intestinal blockages
5. Infertility
6. Dehydration and imbalance of electrolytes
7. Higher risk of digestive tract cancer
8. Cystic fibrosis-related diabetes
9. Difficulty in absorbing nutrients in the digestive tract

How is Cystic Fibrosis Diagnosed?

Generally, doctors take a physical exam, review one’s cystic fibrosis symptoms and accordingly do some tests. These tests include:

1. Genetic Testing: Doctors can recommend genetic testing to look for any changes in the CFTR gene and confirm the diagnosis.
2. Sweat Chloride Test: It is also known as the sweat test, a gold standard for cystic fibrosis diagnosis. In this testing, a sweat sample is collected and tested to see if it’s saltier than the general level. It is performed at care centres that are backed by cystic fibrosis research and foundations.

What is Cystic Fibrosis Treatment?

Cystic fibrosis has no cure, but treatment and medications are available to reduce complications for a comparatively better quality of life. The cystic fibrosis treatment includes:

1. Pulmonary rehabilitation
2. Nasal and sinus surgery
3. Bowel surgery
4. Lung transplant
5. Airway clearance techniques
6. Medications like CFTR modulators and the CFTR protein

Apart from these treatments, here are some lifestyle habits that can also help manage cystic fibrosis and lower the risk of complications:

1. Quitting smoking and avoiding smoke exposure
2. Eating a healthy diet rich in fibre, salt, and fat
3. Staying well-hydrated
4. Taking extra calories and enzyme supplements every day
5. Engaging in regular physical activity
6. Washing hands frequently

Cystic fibrosis needs timely testing and regular follow-up so complications can be caught early and managed well. If an individual notices cystic fibrosis symptoms, they must consult their doctors and book diagnostic tests directly on the Dr Lal PathLabs app.

FAQs

1. What is cystic fibrosis?
The cystic fibrosis definition: It is a genetic disease in which thick mucus is built up in the lungs, pancreas, and digestive system, leading to serious health problems.

2. What are the main cystic fibrosis symptoms?
Cystic fibrosis symptoms include troubled breathing, repeated lung infections, excessive cough, foul-smelling stools, wheezing, blocked intestines, severe constipation, frequent sinus infections, and limited energy.

3. What is the cystic fibrosis life expectancy?
With current cystic fibrosis treatment, many people live into adulthood, often into their 40s or longer.

4. What happens to a person with cystic fibrosis?
People with cystic fibrosis have issues in the glands that make sweat and mucus. The disease causes mucus to become thick and sticky, which then blocks airways and ducts in organs like the lungs, intestines, and pancreas. This leads to breathing problems, frequent infections, and an inability to absorb nutrients from food.

5. How serious is cystic fibrosis?
Cystic fibrosis is a life-threatening disease. Frequent lung infections like pneumonia and bronchitis can damage the lungs severely, which can eventually cause death.