Cystic fibrosis is an inherited genetic disorder that affects the cells of the sweat ducts, mucous membranes, and the digestive juices in the body. It primarily affects the lungs and the pancreas. Fluids produced by the body like sweat, mucus and digestive juices are usually very thin, but in people with cystic fibrosis, these fluids become congealed and thick. Instead of lubricating the body’s ducts and passageways, they block them and hamper further production of these fluids. Cystic fibrosis is almost always diagnosed before the age of 2 years, although in rare cases, an affected person may not exhibit any symptoms until adolescence or adulthood.
Since screening for cystic fibrosis is performed on every newborn in the country, the condition is usually detected within the first month of birth before any symptoms arise. The symptoms, when they arise, mostly affect the respiratory and digestive systems.
- A higher than normal level of salt is present in the sweat of those affected by this condition.
- Those who were diagnosed late experience more atypical symptoms like recurrent pancreatitis or pneumonia and infertility.
- Respiratory symptoms like a persistent and chronic cough that produces sputum, wheezing, shortness of breath, frequent lung infections, and inflamed nasal passages are common.
- Digestive system issues like foul-smelling stools, severe constipation, and intestinal blockage are also common.
- Genetics: Cystic fibrosis is a genetic disorder that runs in families. It is caused by an abnormal mutation of a particular gene. Both parents need to have the faulty gene for the child to be affected by cystic fibrosis. The child will not develop the condition if only one parent has the gene, but in this case, the child becomes a carrier of the gene and can pass it on to their offspring.
- Ethnicity: Cystic fibrosis is more common in the Caucasian population with Northern European ancestry.
Complications related to cystic fibrosis are twofold — respiratory and digestive.
- Respiratory complications include bronchiectasis, chronic bronchitis or pneumonia, nasal polyps (growths in the nose), hemoptysis (coughing up blood), pneumothorax (collapsed lung), and respiratory failure.
- Digestive symptoms include intestinal obstruction, blocked bile duct, malabsorption of nutrients, and diabetes.
Other complications associated with cystic fibrosis are infertility, electrolyte imbalance, and osteoporosis (weak and brittle bones).
The earlier this condition is diagnosed, the sooner treatment can begin to improve a patient’s quality of life. For this reason, newborns in the country are routinely scanned for cystic fibrosis. A blood test to check IRT levels for the presence of a mutated gene is conducted. Otherwise, a sweat test is conducted when the newborn is two weeks old by applying a sweat-inducing chemical to a small area of skin. The sweat is then tested to see if it contains higher than normal levels of salt.
Gene testing and sweat tests are also recommended for those who did not undergo testing when they were born.
Cystic fibrosis does not have a cure. Treatment is usually aimed at reducing and managing symptoms and keeping complications at bay.
- Treatments focusing on preventing lung infections, loosening mucus, and providing nutrition are undertaken.
- Medications like antibiotics to treat infections, anti-inflammatory medicines to reduce inflammation in lung passages, mucus-thinning medications, bronchodilators, and oral pancreatic enzymes can be taken to reduce or alleviate the symptoms.
- If the blood oxygen levels decrease due to reduced lung function, oxygen therapy is recommended to prevent pulmonary hypertension.
- In severe cases, where all other treatment options fail, one can go in for a lung transplant.