The inherited condition, whereby there is excessive mucus production in the lungs and gastrointestinal tract is called cystic fibrosis. This condition is diagnosed at birth and treated by Best Pulmonologist in Lahore. Read on to know more about cystic fibrosis, its symptoms, diagnosis, complications and management options:
What is cystic fibrosis?
Cystic fibrosis is a genetic disorder with defective ion channels, affecting the flow of ions like salt and fluid in and out of the cells. The defect lies in a gene called CFTR (cystic fibrosis transmembrane conductance regulator), which can result in sticky mucus building up in the body.
In people diagnosed with cystic fibrosis, two defected copies of CFTR genes are inherited. In case of inheritance of only one copy, the baby is only a carrier of disease. In the United States alone, there are about 10 million carriers of cystic fibrosis. In case two carriers get married, there is 1 in 4 chance that a baby with cystic fibrosis will be born.
What are the symptoms of cystic fibrosis?
The symptoms of cystic fibrosisintensify with time. These include:
- Breathing problems due to buildup of mucus in the lungs
- Poor digestion as pancreatic fluids are blocked by mucus
- Recurring lung infections
- Failure to thrive in babies
- Damage to the airways, with chronic cough and shortness of breath (bronchiectasis)
- Bowel obstruction in newborns needing surgical management (meconium ileus)
- Yellowing of skin and eyes due to jaundice
- Later on, there can be weak bones (osteoporosis), infertility in men, diabetes and liver problems.
How is cystic fibrosis diagnosed?
Early diagnosis of cystic fibrosis helps in improving the quality of life and symptoms. Screening tests are performed at birth to help in early diagnosis ofcystic fibrosis. These screening tests include:
- DNA test: in this investigation, CFTR gene mutation is looked for.
- Sweat test: the salt levelin the sweat of the baby is tested. Higher levels of salt are suggestive of cystic fibrosis.
- Blood test: this test checks the level of immunoreactive trypsinogen (IRT), high levels of which are present in patients with cystic fibrosis.
What are the complications of cystic fibrosis?
The complications of cystic fibrosis include:
- Osteoporosis: this is more common later on life as bones become brittle and weak. Medication called bisphosphonates can be used to improve this condition.
- Chronic infections: in individuals diagnosed with cystic fibrosis, there is predisposition to chronic lung infection, as the lungs become an ideal site for microorganism infestation. Individuals with cystic fibrosis often have chronic sinus and lung infections, which is resistant to antibiotic therapy.
- Hemoptysis: coughing up blood or hemoptysis can occur commonly in cystic fibrosis as blood vessel involvement and airway damage occur side-by-side.
- Acute exacerbation of respiratory symptoms: in patients of cystic fibrosis, acute exacerbation of lung infections occur much more frequently. Such patients have more mucus productionand dyspnea than others. Hospitalization may become necessary for them to manage the disease complications.
- Pneumothorax: lung collapse can occur due to leakage of air into lung space, causing the lung to collapse; this is called pneumothorax. It can present with breathlessness and sudden chest pain.
- Nutritional deficiencies: if the digestive juices carrying the digestive enzymes from the pancreas do not reach the intestines due to mucus blockage, the body is unable to properly digest food and absorb the nutrients from it. This results in delayed growth, rapid weight loss and even inflammation of the pancreas.
- Intestinal obstruction: in people with cystic fibrosis intestinal obstruction can occur at any age. Such patients are more susceptible to sliding of the intestinal segment in the adjacent segment—called intussusception. This telescoping of intestines results in obstruction.
- Liver disease: fatty liver disease, cirrhosis of liver and even gallstones are common in individuals with cystic fibrosis. This is because the duct carrying bile from the liver and gallbladder to the intestines gets inflamed and blocked.
- Diabetes: the risk of diabetes increases manifold in people with cystic fibrosis, rising to20% in teenagers and 50% in adults.
How is cystic fibrosismanaged?
According to experts at Iqra Medical Complex there is no cure for cystic fibrosis. However,close monitoring, early diagnosis and symptomatic management can improve the quality of life.