THIRUVANANTHAPURAM: Here’s a shocker. Unhealthy food or lack of exercise are not the only triggers for heart attacks among youths in the state. The answer may lie in the genes, as cardiologists at Thiruvananthapuram Government Medical College (GMC) have found. During a pioneering gene sequencing study on heart patients, the doctors discovered a unique gene in a 30-year-old youth from Thiruvananthapuram that was causing his cholesterol levels to spike.
The study also affirmed the role of family in vascular diseases, busting the myth that lifestyle factors are to be solely blamed for the diseases. The mutation is the first-ever reported in the world. The study on 54 patients was done by a team that included GMC cardiology department head Dr Sunitha Vishwanathan and professors Dr Sivaprasad and Dr B Krishnakumar.
It found 27 genetic mutations that spiked bad cholesterol levels in the blood, causing Familial hypercholesterolemia, an inherited disorder. “The 30-year-old had a cholesterol level of 400-500 mg/dL (normal is 125-200). The gene mutation was preventing the movement of cholesterol to the liver, resulting in the spike. There is a need for wider studies as such genetic mutations may be present in others. The studies can aid prevention of a premature cardiovascular accident (like heart attack) or cerebral vascular accident (stroke) through early adoption of medicines,” said Dr Krishnakumar, lead author of the study. He said the findings should be an eye-opener for people who believe a healthy diet and proper exercise can prevent attacks.
15% of total cholesterol from food, rest genetic: Docs
“Less than 15% of total cholesterol in the body comes from food. The rest is through genetic make-up. A person having a history of premature heart disease, should check their cholesterol. If statins (medicines that can help lower cholesterol) are indicated, they should be adopted as early as possible,” he said. Life expectancy in Kerala is 78 years for women and 73 years for men. The average age of heart attack is 58 years. Any cardiovascular disease in men below 55 and women below 60 is considered premature. The disease affecting those in the most productive age group deprives the family of financial stability.
Multiple feats
The mutation in the 30-year old is the first-ever reported in the world, while nine other ones are the first in the country. All 10 variants have been included in ClinVar, a public archive of human genetic variants and interpretations of their significance to disease maintained at the National Institutes of Health (NIH) in the US. The findings have earned GMC recognition from the NIH in the US, making it the first in the country to achieve the feat.
Causing heartache
3 lakh deaths per year in India
1.02 lakh estimated deaths in Kerala in 2019
Stroke prevalence: 130-140 per 1 lakh people