Cystic Fibrosis: Symptoms, Causes & Risk Factors, Complications, Diagnosis, Treatment & Prevention

Last Updated on May 5, 2023 by Shabnam Sengupta

According to a report, about 162,500 people are living with cystic fibrosis globally. It is a long-term disease, which can affect people’s daily lives adversely, and it gets worse over time.

Introduction

Cystic fibrosis (CF) is a genetic disease that affects the lungs, digestive system, and other organs in the body. The cells that produce mucus, sweat and digestive fluids are abnormal in cystic fibrosis. Normally, these fluids are thin and slick in nature. In CF, a faulty gene results in these secretions becoming sticky and thick. Due to this change, rather than functioning as lubricants, these fluids clog the passages, particularly in the lungs and pancreas. In the lungs, the thick mucus blocks the airways making it difficult to breathe. Mucus can also block pancreatic ducts, making it difficult to digest meals. Children and babies with CF are unable to absorb enough nutrients from their diet. Sex organs and the liver are also affected by CF. It is chronic (long-lasting) and progressive (worsens over time).

CF can cause a lot of difficulties in a person’s life. However, in recent times, with the progress in modern technologies in screening and therapy, people with this disease have a better quality of life than those in prior decades and they even live longer.

Symptoms

1. Inability to thrive (inability to gain weight despite having a good appetite and taking in enough calories).
2. Loose or greasy stools.
3. Breathing difficulties
4. Consistent wheezing
5. Lung infections are common (recurrent pneumonia or bronchitis)
6. Sinus infections that recur
7. A persistent cough
8. Growth and development is slow
9. Polyps in the nose
10. Infertility
11. Diarrhoea
12. Symptoms of pancreatitis

Causes

1. Cystic fibrosis is a hereditary disease. CF patients inherit two defective genes, one from each parent. CF is a recessive disease, which means that two defective genes are required for the disease to occur.
2. In many cases, a family history of cystic fibrosis does not exist. This could be because the family members have only one defective gene and are carriers of the disease.

Risk Factors

1. The greatest risk factor is a family history of CF. As this is a genetic disease, people who have first degree relatives with CF have a greater risk of developing CF than those who do not.
2. Caucasians appear to have a greater risk of developing CF.

Complications

The following are some of the complications of CF:

1. Adults with CF may experience difficulties with breathing, digestion, and reproductive functions.
2. The thick mucus blocks the respiratory passages trapping bacteria, leading to repeated infections.
3. People with CF are more likely to develop diabetes or bone-thinning diseases such as osteopenia and osteoporosis.
4. Without the use of alternative reproductive technology, men with CF may be unable to father children. Women with CF may experience reduced fertility (the capacity to have children) and pregnancy difficulties.

Diagnosis

1. Newborn screening: During the newborn’s stay in the hospital, a healthcare professional takes a few drops of blood from a heel prick and inserts them on a special card called a Guthrie card. The exam screens for a variety of illnesses, including cystic fibrosis. 
2. Sweat test: A perspiration test determines how much chloride is present in the body’s sweat, which is higher in the people suffering from CF. A healthcare professional administers a substance called pilocarpine to your skin and then uses a little amount of electric stimulation to urge the sweat glands to generate sweat throughout the test. 
3. Genetic tests: Blood samples are examined for CF causing genes.
4. Chest X-rays: A healthcare provider may prescribe chest X-rays to support or confirm a diagnosis of CF. However, a chest X-ray is not the only test enough to confirm a diagnosis. Other tests are also required.
5. Lung function tests: A spirometer is used to measure lung function.
6. Sputum culture: A sample of your sputum (phlegm) is taken and tested for bacteria.

Treatment

1. You will almost certainly have a healthcare team that includes a cystic fibrosis specialist as well as a variety of other sorts of caregivers. Cystic fibrosis has no cure, but the team will work with you to manage the disease. The most important goal of management is to maintain clear airways. If medication is required, your doctor will write a prescription for you.
2. If you have cystic fibrosis, there are a few things you can do to help keep your airways clear:
   1. You can learn and practice certain breathing techniques.
   2. You can loosen mucus with some equipment that fits over your nose and mouth or treatment vests that employ vibrations.
   3. To loosen mucus, you can try chest physical therapy, also known as postural drainage and percussion.
3. The complications of CF can be controlled by:
   1. Regular checkups to keep track of disease progress
   2. Antibiotics whenever required to prevent or treat recurrent lung infections which might worsen the symptoms.
   3. Physiotherapy, and other medications may be used.
   4. Receives the proper nourishment.
   5. Adequate exercise
   6. Avoiding smoking

Prevention

1. CF cannot be prevented as it is a genetic disease.
2. People with relatives having CF can get a genetic test before planning a pregnancy to ensure that they are not carriers of CF.

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