Although classic cases of cystic fibrosis are very rare among Asians, it is still a widely-known illness even in Singapore where no more 1 case is reported annually. However, there are variant forms of the disease which medical practitioners might not be aware of, making diagnosis and treatment almost impossible.
Causes and Inheritance
Cystic fibrosis primarily affects the lungs of a person. It’s a type of genetic diseases that causes a buildup of sticky and thick mucus in the lungs and other organs. This mucus can clog the airways, allowing an ideal environment for bacteria to thrive. This is turn leads to infections and other problems in the organs also affected by the buildup of the mucus.
Those who have this condition have mutations in their CFTR genes, which are responsible for water movement in the tissues and the transportation of chloride irons in the cells. Therefore organs that produce mucus are affected, which cause digestive problems and issues in fertility.
Most cases of cystic fibrosis are diagnosed among children, although some adults do not get a proper diagnosis until later in their lives. Most of the men suffer from infertility, while the women are prone to complications during pregnancy.
Diagnosing Cystic Fibrosis
Symptoms of cystic fibrosis can vary among patients but the most common signs to look out for include the following: persistent coughing and frequent incidences of lung infections, wheezing, shortness of breath, weight gain or poor growth, salty-tasting skin, and persistent problems in bowel movement.
These symptoms vary in their severity and complexity, which is why some patients are still able to live productive lives despite the disease. However, most of them are vulnerable to lung infections, liver disease, infertility, and malnutrition.
There is a newborn screening for cystic fibrosis in Singapore if the parents request for it. The earlier it is diagnosed, the better the chances of the infant having a better life. The newborn’s blood sample is screened for the presence of immunoreactive trypsinogen, which may be higher among babies with cystic fibrosis.
The result needs to be confirmed through sweat tests and genetic testing. For older children and adults, sweat and genetic testing are recommended especially if there are signs of recurring lung infections, chronic sinusitis, nasal polyps, and pancreatitis.
Lifestyle and Treatment
Unfortunately, there is no cure for cystic fibrosis yet, but the symptoms can be treated to avoid complications. However, treatment is unique for each patient and will involve several specialists depending on the symptoms and their severity. The goal of the treatment is for the person to get the right amount of nutrition, preventing intestinal blockage and lung infections, and to remove mucus buildup in the lungs.
Regular checkups are required to monitor abnormalities in the organs and to remove nasal polyp, mucus, and bowel blockage. In some cases, a feeding tube may be needed, or a lung transplant required if the infection is severe.
At home, the person is expected to monitor nutrient absorption, update immunizations, maintain proper fluid intake, and to take supplements.