Cystic fibrosis: Advancements in care have improved life expectancy

The condition may be suspected prenatally or during early years of life and is usually diagnosed through genetic study or using a sweat chloride test.
Cystic fibrosis is a genetic disease.
Cystic fibrosis is a genetic disease.

Cystic fibrosis, an inherited disorder which causes damage to the lungs, affects the cells that produce mucus, sweat and digestive juices, which are normally thin and slippery. But in people with the disease, a defective gene causes the secretions to become sticky and thick. The disease is usually diagnosed through genetic study or using a sweat chloride test, says Dr Elizabeth Sunila, consultant pulmonologist, Aster Medcity, Kochi, in an interview with Anna Jose. Edited excerpts:

What is cystic fibrosis? What are the symptoms, and how is it diagnosed?

Cystic fibrosis is a life limiting, multisystem disease in which certain glands in our body produces thick secretions which results in damage to several organs, including the lungs, pancreas, intestine, etc. For individuals suffering from the disease, the secretions become thick. The condition may be suspected prenatally or during early years of life and is usually diagnosed through genetic study or using a sweat chloride test.

In children and adults, the symptoms can vary from very salty skin, poor growth or weight gain despite a good appetite, frequent bulky greasy stools, recurrent respiratory infections, bronchiectasis, recurrent pneumonia and sinusitis, male infertility, enlargement of tips of fingers and toes (clubbing), etc.

What is the role of genetics in cystic fibrosis?

Cystic fibrosis is a genetic disease. If the parents have the disease, the child can inherit it. It is an autosomal recessive (AR) inherited disease. We have the CFTR gene. The disease occurs due to a variety of mutations in this gene. If anyone in the family has cystic fibrosis, other members of the family can be affected or can be carriers.

What is the prevalence of cystic fibrosis in India?

Though a rare disease, it is now increasingly diagnosed in India but low compared globally. In Caucasians, the prevalence is one in 3,000. In India, according to the HSOA Journal of Pulmonary Medicine and Respiratory Research, there are around 40,000 cystic fibrosis patients at present .

Dr Elizabeth Sunila
Dr Elizabeth Sunila

How can the condition be treated?

Treatment of cystic fibrosis should be tailored according to a patient’s needs and severity of the disability. Each day the patient will require medications to be inhaled and airway clearing exercises that help them to loosen secretions in the lungs and nose, apart from pancreatic enzyme supplements to improve absorption of vital nutrients, multiple vitamin supplements to complement nutritional needs, and individual fitness plan to improve lung function and overall health. Many of them have diabetes which should be controlled. They will have recurrent respiratory infections requiring judicious use of antibiotics especially when multidrug resistant virulent organisms colonize their airways. Certain drugs modulating CFTR (with benefits in selected gene defects) approved are not available in India. Early diagnosis, institution of appropriate treatment and chest physiotherapy are the key to improve survival of patients with cystic fibrosis

With the advancements in medical care, how effective are treatments?

The survival of patients has improved steadily over the last three decades. Earlier, many of the children died in their initial years of life following infections and malnutrition. With effective oral, parenteral and inhalable antibiotics, early identification of disease, better secretion thinning medicines and increased quality of care, many of the patients now may live up to 40-50 years or even more. Absence of newborn screening services in India precludes early diagnosis and intervention. We have a lack of specific CF care centres to facilitate early diagnosis and to provide specialised care to these patients. Akin to any other chronic disease, prognosis of CF is also grave in patients from poor socio-economic status.

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