GENETIC CAUSES FOR HIGH CHOLESTEROL ARE RARE

Genetic mutations that can be blamed for unusually high cholesterol are far rarer than previously thought, existing in only about two percent of the population.

Previous studies have suggested that as many as 25 percent of people with very high cholesterol, defined as a low-density lipoprotein (LDL) cholesterol levels of 190 mg/dl or higher, could blame their condition on their genes.

LDL is widely known as "bad cholesterol" because it leads to buildup of harmful plaque in the arteries.

"Many clinicians assume that patients with LDL above 190 have a familiar hypercholesterolemia mutation as the major driver", said Amit Khera, a cardiology fellow at Masssachussets General Hospital and lead author of the findings presentes at the America College of Cardiology conference in Chicago.

To perform the study, researchers compiled the largest gene sequencing analysis to date based on people with very high cholesterol.

There are three different known mutations that can lead to a diagnosis of familiar hypercholesterolemia.

Only two percent of individuals had mutations in any of the three known familiar hypercholesterolemia genes.

Even though there were relatively few of these people, their risk for developing life-threatening plaque buildup in the heart's arteries by their 50s or 60s was extraordinarily high, 22 times higher than people with average cholesterol levels (LDL below 130 mg/dL), said the study.

For those without the inherited gene mutations, but who still had very high cholesterol, their risk of early-onset coronary artery disease was six times higher than people with LDL below 130.

Researches estimated that 412,00 of about 14 million adult Americans with an untreated LDL of 190 or higher have a familiar hypercholesterolemia mutation.

Fuente: Times News

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