When he was eight, Pritam Chawla was left out of games because he got tired easily. Although he hated himself for it, he never quite understood why he would slump down after mild activity, feel heavy after eating and excuse himself from exercise class. But his father got him tested for cholesterol given their family history, and he was put on paediatric doses of heavy medication. At 27, he is on injectable drugs and pills to keep his cholesterol levels from surging. Much like Saket Sharma, who had his first heart attack at 38 and has had two rounds of stenting, and 72-year-old Sunil Bhatt*, who realised he had suffered three silent heart attacks before the one that got him to hospital last year.
A Gen Z, a Boomer and a Gen X, they all suffer from familial hypercholesterolemia, a serious inherited genetic condition that causes very high levels of low-density lipoprotein (LDL) or “bad” cholesterol, leading to a high risk of early heart disease and stroke. It is caused by gene changes passed down in families that stop the body from removing extra cholesterol from the blood. Indians experience a disproportionately severe burden of early-onset heart disease linked to it. Most importantly, keeping LDL under tight control is a tough challenge. While healthy habits support heart health, they rarely control the severe genetic buildup of cholesterol on their own. So, missing any one of the drugs or irregularity can spike LDL levels.
“People living with familial hypercholesterolemia can never let their guard down as they are required to keep their LDL to below 50 mg/dL if other personal risk factors or early signs of heart disease are present. First is a constant lifestyle check. Second is managing drugs,” says Dr Gautam Naik, senior consultant cardiologist at Apollo Heart Valve Clinic, New Delhi.
They cannot solely depend on statins, which block an enzyme in the liver needed to make cholesterol. They need inhibitors for PCSK9, a protein made by the liver that reduces its ability to remove LDL from the blood. Drugs block this protein, allowing the liver to clear more LDL cholesterol and lowering the risk of heart attack and stroke.
The medicines capable of dramatically lowering LDL are also among the costliest, forcing many to either stretch finances or settle for less effective alternatives.
These can lower cholesterol by about 60 per cent on their own but these injectables can cost up to Rs 40,000 per month for fortnightly dosing. The annual cost is about ₹5 lakh, unaffordable for most. Over time, the body may require adjustments or stronger combination therapies. Rare, severe forms of familial cholesterol may require advanced therapies such as lipoprotein apheresis (a blood-filtering procedure).
That’s why the announcement of Merck’s new oral pill, Lipfendra (generic name enlicitide), which has similar properties as the injectable as it drops LDL by about 60 per cent, is giving hope to doctors. Though it has been approved by the US FDA, it will take some time coming to India after regulatory approvals here and may be priced a bit lower than injectables.
An unbending drug regime since childhood
When Pritam was first diagnosed as a child, he had dangerously high cholesterol at 130 mg/dL when it should have been lower than 110 mg/dL. Today, pursuing an MBA in foreign trade, his cholesterol still sits at 450 mg/dL, several times the recommended level. “I still feel lethargic and I can’t do heavy exercise either. I probably need to change my drug combination again,” he says.
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The irony, says Dr Naik, is that Pritam’s condition has very little to do with what he eats. “His inherited disorder means he cannot remove LDL cholesterol from the blood like normal people. Think of the liver as the body’s cholesterol-cleaning system. In his case the clean-up crew is working half strength and may take several days to do their task compared to a couple of days in normal people. As a result, bad cholesterol stays in the bloodstream much longer and builds up from childhood.”
Pritam’s daily routine revolves around medication. He reels off the names without pausing to think—Ezetimibe (reduces the amount of cholesterol absorbed from food and bile in the small intestine) with Bempedoic Acid (reduces cholesterol production), Rosuvastatin (statin), Ecosprin (blood thinner) and Fenofibrate (reduces other blood fats and increases good cholesterol or HDL). For him, remembering prescriptions has become second nature.
Dr Naik says patients with familial hypercholesterolemia face a much greater risk of developing heart disease at a young age, so early detection is critical. “Many in India are not even aware that they may be living with this condition until an episode happens. It is then that they tell us that some members in their family tree have always had heart attacks in their 40s and 50s. That’s why all Indian adults must undergo a baseline health assessment — including a lipid profile, blood sugar, HbA1c and cardiac evaluation—from their 20s onwards. Those with a family history of premature heart disease or inherited high cholesterol should begin screening earlier and undergo more frequent follow-ups,” he suggests.
In fact, if a patient is diagnosed, he insists that all first-degree relatives get themselves screened as well. According to American Heart Association guidelines, children with a family history of very high cholesterol or premature heart disease should undergo a cholesterol test from two years of age, while all children should have at least one lipid screening between 9 and 11 years, followed by another between 17 and 21 years. Adults should begin routine lipid testing at 19 years and repeat it at least every five years, with more frequent testing for those at higher risk.
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When healthy habits aren’t enough
If Pritam’s story illustrates the challenge of living with a genetic disorder from childhood, Saket Sharma’s is a reminder that even disciplined lifestyles cannot always overcome inherited risk.
The Gurugram-based businessman has never smoked, been a vegetarian and teetotaller. He walks regularly, practises yoga and weighs 60 kg. Yet he suffered his first major heart attack at just 38. Since then, he has undergone angioplasty twice—first in 2004 and again in 2014.
Dr Manish Bansal, senior director of cardiology at Medanta, Gurugram, says Saket represents a group of patients in whom standard treatment often proves inadequate. “His LDL remained elevated despite multiple angioplasties. He also developed muscle pain while on statins,” he says. He is now on inclisiran, a twice-yearly injectable therapy that helps scoop out LDL cholesterol more effectively.
For Saket, one of the hardest parts has been watching the condition repeat itself across generations. “My son, who is 22, has already started cholesterol medication. My daughter, who is 30, is also on treatment. My wife’s father had high cholesterol, and so did my uncle.”
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Three heart attacks…..
For Sunil Bhatt*, 72, the warning signs never seemed dramatic enough to suggest a failing heart. While working with the Delhi Metro Rail Corporation in 2015, he began experiencing a heaviness in his chest whenever he boarded the train. It felt like acidity.
“I went to a general physician, who gave me medicine for gas. But the problem never really went away. Tests revealed 95 per cent blockages in two major coronary arteries. My resting pulse had shot up to nearly 250 beats a minute. I could literally feel my heartbeat outside my body,” he says.
The biggest shock, however, came a few days later. Doctors told him he had already suffered three silent heart attacks before the one that finally brought him to hospital. Dr Bansal says Sunil’s case represents one of the more difficult forms of cholesterol management. “He underwent angioplasty, continued to have persistently high LDL cholesterol and developed muscle pain that limited statin therapy. Only injectables work on him but they come with a heavy price tag,” he adds.
For many patients, this is the dilemma. The medicines capable of dramatically lowering LDL are also among the costliest, forcing many to either stretch finances or settle for less effective alternatives.
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Apart from his medicines, his daily routine now includes small but important adjustments in diet and a school routine-like consistency in his exercise and sleep patterns. “Life has become a series of careful calculations but that’s the only way I can play with my grandchildren,” he says.
(*Name changed to protect privacy)
The medicines capable of dramatically lowering LDL are also among the costliest, forcing many to either stretch finances or settle for less effective alternatives.