Written By: Shraddha Rupavate | Updated : June 13, 2014 5:03 PM IST
Somewhere in a small district of rural India, a mother enters a nearby health care centre with her child who is gasping for breath, constantly coughing and appears weak. These symptoms are so similar to other respiratory conditions that the child is given the same medications as other children who showed similar symptoms. Unlike several other kids, who responded to those medications well and got cured; this child finds no relief whatsoever because he is suffering from a life-limiting genetic disorder called cystic fibrosis.
Once thought to be non-existent in India, cystic fibrosis is the much widespread in Indian population, especially in kids, than expected. And what could be more frightening than the fact that most cases of cystic fibrosis are misdiagnosed. Even if the disease is suspected, it is rarely confirmed because of poor diagnostic facilities.
Why makes diagnosis of cystic fibrosis difficult?
Cystic fibrosis is a chronic genetic disease affecting the lungs and gastrointestinal system. It results due to a gene defect which is passed on to children having parents who carry a defective gene. This defective gene codes for a protein that causes the lungs to produce sticky, dense mucus. The mucus gradually clogs the lungs and cause several lung infections that might be fatal. It also affects the normal functioning of pancreas by obstructing the production of certain substances (enzymes) required by the body to digest and absorb food.
The clinical symptoms of cystic fibrosis mimic a lot of symptoms found in asthma, whooping cough, tuberculosis, chronic diarrhea and conditions related to the immune system and digestive system. Hence, patients with cystic fibrosis are never suspected to have the condition during their first visit to the doctor. (Read: Tuberculosis causes, symptoms and diagnosis)
Because the condition is caused due to a genetic defect, the severity of disease is variable depending on the site of defect in the gene. And, there are over 1000 identified mutations in the gene causing cystic fibrosis.
Studies have also found that symptoms and profile of patients with cystic fibrosis in India is a lot different than patients in other countries, making diagnosis even more difficult.
What are the symptoms of cystic fibrosis?
In India, cystic fibrosis patients usually suffer from malnutrition along with respiratory and digestive problems. A peculiar characteristic of these patients is the presence of high salt concentration in their sweat. (Read: Why you shouldn't neglect cough)
Respiratory problems due to dense, sticky mucus include:
Digestive problems include:
Sometimes, diabetes may develop in people with cystic fibrosis because of damaged pancreas. Older children or adults may show signs of arthritis or osteoporosis (weakness in bones and joints) as the disease develops. Older adults with cystic fibrosis are infertile.
How can cystic fibrosis be confirmed?
Suspecting cystic fibrosis is a complicated task. With detailed study of the patients' symptoms and a look at their family history, cystic fibrosis can be suspected. Suspected cystic fibrosis cases are usually confirmed by detecting the concentration of salt in the patient's sweat. Chloride concentration of greater than 60 mmol/L indicates cystic fibrosis.
Sweat testing centers in India are not widely available. However, a few diagnostic centers such as SRL Diagnostics (Mumbai), Dr Lal's Path Lab (Gurgaon) and hospitals like Sooriya hospital (Chennai) have new born screening tests that can detect the presence of defective CF gene in the child. Genetic screening test is really helpful for early detection of the condition, improving the quality of life and increasing the life span of the individual. (Read: Special screening to detect birth defects in children launched)
Can cystic fibrosis be cured? What are the treatments available?
Cystic fibrosis cannot be cured. The aim of treatment is to ease the symptoms and improve the quality of life of patients. Earlier, only a few children diagnosed with cystic fibrosis survived to attend school. Today, thanks to developments in treatments and research, individuals with cystic fibrosis can expect to live up to their 40s and even beyond with proper management and care.
Medication
Medicines are mainly prescribed to clear the blocked nasal passage and treat infections. But, other conditions related to cystic fibrosis can also be managed with drugs.
There are a few breathing devices and devices which help in the removal of mucus from the lungs.
Nutrition
Since cystic fibrosis is associated with problems in absorption of nutrients, special care for diet and nutrition should be taken. The diet of patients with cystic fibrosis should be high in calories and should include simple carbohydrates. Because of problems in digestion, semi-solid foods or foods that are easily digestible may be given. Liquids like fruit juices and milkshakes should be included in the diet. Sometimes, dietary supplements may be needed.
Physical therapy
Physical therapy is important in patients with cystic fibrosis to improve their lung function. Pulmonary rehabilitation is usually considered which includes exercise techniques and techniques to minimize energy expenditure on a daily basis. Breathing techniques may help the patients to manage their condition well. Physiotherapy is another option, especially for people having bone and joint problems.
Surgery
Can cystic fibrosis be prevented? How?
Cystic fibrosis cannot be prevented as such. Carrier testing is the only option that can prevent the incidence of cystic fibrosis. Couples who are either planning or expecting a baby should consider taking the test. (Read: 'BabyShield' for painless screening programme for newborns launched)
The test is done using blood samples of the couple to detect the presence of defective gene or mutation in the gene that causes cystic fibrosis. If both the partners are positive for the test, further prenatal screening is done to see the chances that their baby has or may develop cystic fibrosis.
Read more about causes, symptoms, diagnosis and treatment of lung disease.
References:
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