Cystic Fibrosis (CF) is a genetic disease affecting several organ systems but predominantly lungs leading to recurrent pneumonias and other complications leading to early death. Currently, it is estimated that about 30,000 people are living with CF in United States and 70,000 worldwide as per CF Foundation.
It is usually diagnosed very young, usually under 2 years of age, as a part of a screening program in the United States. Initially, CF was thought to be primarily affecting white race but later on it was found to be affecting African Americans, Hispanics, Asians (including Indians).
Before the screening program was implemented back in 1982 in the USA, the life expectancy of these patients was less than 20 years. Since 2010, all newborns in United States undergo screening for CF. In India, several case reports of children affected by CF was published in the last few years but this entity is not widely known to people and also many physicians.
About 1000 new cases are diagnosed each year in United States alone. The population of India is several fold greater than the population of United States. So, we believe that there are several cases of CF undiagnosed and they die very young as most doctors also do not routinely consider testing for this deadly genetic disorder. Cystic fibrosis may also present in adults.
Dr. Penchala Swamy Mittadodla, MD, FCCP, MRCS, is the Medical Director of the ICU at Mercy Hospital Rogers in Arkansas and leads the Cystic Fibrosis Mission and is also the Clinic Director of Cystic Fibrosis. He has been a pioneer in raising awareness regarding this disease globally, including in India. He has launched a web campaign through the site www.cysticfibrosisepi.com. Sreerupa Patranabish recently caught up with Dr. Mittadodla in a candid interview.
SP: Hello Dr Penchala Mittadodla, Welcome to the discussion about “CF in India”. Firstly, thank you for your time in trying to educate people of India and the rest of the world. Can you please tell us about yourself?
PM: I am a Pulmonology and Critical Care Physician at Mercy Hospital, AR, United States. I graduated from Osmania Medical College, Hyderabad, India. Then, I received training in the UK for 7 years before I moved to the United States of America. I am the Medical Director for the Adult Cystic fibrosis Center and also the Medical Director for the Intensive Care Unit at Mercy Hospital.
SP: What is Cystic Fibrosis?
PM: It is a genetic disorder that causes thick mucus to build up in several body organs, mainly lungs, airway sinuses, pancreas glands, liver and reproductive systems. This leads to recurrent infections like Pneumonia, sinus infections, malabsorption, liver failure, infertility etc.
SP: When you say genetic disorder, does it run in some families?
PM: Yes, it is an autosomal recessive disorder, meaning a person needs to have 2 abnormal CF genes, obtained from both parents, to manifest the disease. If a person has only one abnormal gene, they do not have symptoms and they are called carriers. If 2 carriers give birth to children, there is 25% chance of having the CF, 50% Chance of being a carrier and 25% chance of being normal. The probability increases if children are born to a person with the disease and a carrier or 2 people with disease.
SP: Is there a name for the CF gene?
PM: Yes, one of the commonest gene mutation is called Delta 508. But there are more than 2000 types of gene mutations combinations that can cause CF. These details may be seen in the website www.cftr2.org.
SP: How did you develop passion for CF?
PM: As a lung doctor, I would feel bad these young patients dying with complications from CF in the ICU. I developed a passion to thoroughly master the care for patients with Cystic Fibrosis. I developed a special interest during my training as a pulmonologist. I have been to the North American Cystic Fibrosis Annual Conference to imbibe and bring on board the extensive research going on all over the world on CF.
SP: What are the tests needed to be diagnose CF?
PM: It is called a sweat chloride test. Initially, a medicine is used to collect sweat from a small patch of skin and chloride content is estimated. This in conjunction with clinical presentation. A gene analysis is also performed looking for the abnormal gene Delta 508 and associate mutations. Many Indian clinics have the capacity to detect this gene mutation, and in my opinion, this should be more widely used.
SP: How common is this in India?
PM: As I mentioned earlier, we do not routinely screen newborn children for CF in India and the entity is not well known to lot of people in India and we do not maintain a registry, so exact number is not known but some expert pediatricians believe that there may be more that 2500 kids born in a year with CF.
SP: How long does patients with CF live?
PM: Patients survival is much lower in countries like India compared to United States or Europe. Back in 1960’s, these kids did not live past the preschool age in the United States. With robust Screening and advanced care, the average life expectancy has increased to 46 years recently. Unfortunately, in India, due to lack of testing sites and also many physicians not knowing about this entity, our patients still die very young. This is one of the reason increased awareness is needed.
SP: Is there a treatment for CF?
PM: As of now, there is no cure for this genetic disease. The treatment is supportive care with antibiotics, breathing treatments with airway clearance methods, pancreatic supplements etc. In the last few years, 3 new drugs called CFTR modulators have shown to help slow down the progression of the disease.
SP: Can cystic fibrosis be prevented?
PM: Yes, if a person is diagnosed with CF, then getting the rest of family members tested for carrier status will identify who is at risk of passing the abnormal gene. If a carrier person is planning to get married, it is advisable to have the prospective partner get tested for the gene. The both are carriers, then we know that there is about 25% chance of giving birth to a newborn with CF and 50% chance of having a carrier child.
SP: I appreciate you very much trying to bring awareness about this deadly genetic disorder.
PM: I am deeply honored to talk to you and contribute my part in bringing social awareness about this condition. So, if children or young adults are having recurrent sinus or lung infections, malabsorption issues and infertility, then one should consider testing for CF. Early diagnosis and appropriate treatment has certainly helped these patients to live longer. I am sure the care in India is advancing rapidly in treating many conditions, almost on par with other countries but I do believe that Cystic Fibrosis diagnosis and management still remains suboptimal.