Cystic Fibrosis: Symptoms, Causes, Diagnosis, and Treatment

Know about the symptoms you need to look out for in case of cystic fibrosis.

Know about the causes, symptoms, diagnosis, and treatment of cystic fibrosis.

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Cystic fibrosis is a serious genetic disorder that causes damage to the digestive system, the respiratory system, and other parts of the body. Cystic fibrosis affects the cells that participate in the formation of sweat, mucus, and digestive enzymes.

Cystic fibrosis is characterized by abnormal secretions leading to a thick and sticky buildup of mucus that damages the organs and affects their normal functioning.

These secretions are usually thick and slippery which lubricates the lining of various organs and tissues preventing them from drying up and getting infected.

Let's know about the causes, symptoms, diagnosis, and treatment for the condition.

Cystic Fibrosis: Symptoms

According to the doctors of Mayo Clinic, the symptoms of CF may differ from individual to individual and the symptoms may worsen or improve as time passes.

At times, the condition may not be diagnosed until late adulthood. Few of the symptoms of CF include:

• Inability to gain weight

• Loose and oily stool

• Wheezing

• Persistent cough

• Intolerance to exercise

• Stuffy nose

• Frequent lung infections

• Frequent sinus infections

• Severe constipation

Cystic Fibrosis: Causes

According to the doctors of the Cleveland Clinic, cystic fibrosis is the result of genetic mutation. A person often inherits two faulty genes from his parents, one from each which results in the condition. Your parents do not have to suffer from cystic fibrosis for you to have it.

Thus, a patient doesn't really have a family history of cystic fibrosis and his parents are said to be the carriers of CF. Research shows that 1 in 32 people in the US is a carrier of CF and yet has never suffered from the condition.

Cystic Fibrosis: Complications

The secretions at times get too thick and slippery blocking the various ducts, passageways, and tubes in the body which further lead to life-threatening problems (Mayo Clinic).

• It may build up in the lungs blocking the airways, making it easier for the bacteria to grow, thus causing a lung infection, pneumonia, bronchitis, etc.

• The fluid can also block the pancreatic tubes thus hindering the secretion of digestive enzymes. This can result in vitamin deficiency and malnutrition.

• The blockage may also result in loss of salt through sweat thus causing a mineral imbalance in the body resulting in serious health conditions (dehydration, decreased blood pressure, or even death).

Cystic Fibrosis: Diagnosis

According to Healthline, consistent symptoms of CF in any one of the organ systems, evidence of CFTR dysfunction and abnormal test results of sweat chloride test direct the doctor towards confirming the diagnosis for Cystic Fibrosis. Other tests involved are:

Immunoreactive Trypsinogen test: It is a standard newborn test that checks for abnormal levels of IRT proteins in the blood. However, more tests are taken to confirm the condition.

Sweat Chloride test: In this test, the body is made to sweat by triggering it with a chemical, and the sweat collected on cotton or paper is analyzed and the increased levels of salt result in confirmation of CF.

Sputum Test: This test enables the doctor to collect the mucus and check for a lung infection and the type of bacteria causing the infection.

X-rays help check for any swelling or blockages in the respiratory system which might be the cause of lung infection.

A CT scan helps to check the internal organs like the pancreas, lungs, and liver to check for the spread and extent of damage due to CF.

A pulmonary function test checks the level of oxygen inhaled and exhaled by the lungs. It also checks the oxygen being transported to other parts of the body by the lungs. Abnormal results can direct CF.

Cystic Fibrosis: Treatment

According to the US National Institutes of Health (NIH), the treatment options for CF involve:

• Oral, infusions, or injectable antibiotics for lung infections to prevent future infections as well.

• Mucus thinning medications help the body cough up the mucus helping the lungs get rid of it in order to function properly.

• NSAIDs to reduce airway inflammation. It cannot be used for severe lung function abnormalities and for adults above 18.

• Bronchodilators through nebulizers and inhalers improve air flow by helping the muscles around the tubes to relax.

• CFTR modulators improve the function of the CFTR genes rather than managing their effects.

• Operations like bowel surgery to relieve the blockage in the bowel, feeding tube insertion for better digestion and absorption of nutrients. Double lung transplant is also a surgery to improve the lung health and life of the patient.