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What is familial hypercholesterolemia, is high cholesterol genetic?

What Is Familial Hypercholesterolemia Is High Cholesterol Genetic

Some people are genetically predisposed to high cholesterol because of a condition called familial hypercholesterolemia. What is familial hypercholesterolemia, is high cholesterol genetic? 

An estimated one-third of adults in the US have high cholesterol. Many of those people developed high cholesterol on their own, often from years of poor diet and little exercise.

But others are predisposed to high cholesterol from a young age, and it has little to do with their lifestyle. These people have a genetic condition called familial hypercholesterolemia, and it’s estimated that more than 90% of people with the condition haven’t been diagnosed.

High cholesterol can be genetic

Familial hypercholesterolemia (FH) is a genetic condition that makes the body incapable of removing low-density lipoprotein (LDL) — considered “bad” cholesterol — from the blood.

According to the American Heart Association, people with FH are five times more likely to develop coronary heart disease than those with average cholesterol levels. Half of men with untreated FH will have a heart attack before the age of 50, and 30% of women will have one before they turn 60. Research has also found that FH patients have a higher risk of stroke.

FH is caused by a gene mutation, but how severe your symptoms depend on whether you inherited two copies of the mutated gene or just one. Therefore, there are two versions of the condition:

What Is Familial Hypercholesterolemia Is High Cholesterol Genetic

  1. Homozygous FH is when you have two copies of the gene. This version of FH is severe and rare — an estimated one in 300,000 people have it. Untreated, people with this condition rarely live past the age of 30.
  2. Heterozygous FH is when you have one copy of the gene. This type is more common — an estimated one in 250 people have it. People with this condition can develop warning signs of heart disease by their 40s or 50s, and it can be fatal if left untreated.

“Anybody that has any of those gene variants has a 50% chance of passing that gene on to their kids,” says Hina Chaudhry, MD, a cardiologist at Icahn School of Medicine at Mount Sinai.

The most effective way to diagnose FH is to get your child proper genetic testing from a specialist between the ages of 2 and 10, says Mohamed Al-Kazaz, MD, a cardiologist at Mount Sinai Hospital.

Those with FH may also experience physical symptoms at a young age. Fatty deposits of cholesterol, called xanthomas, can often appear in the skin or tendons — usually by age 10 for those with homozygous FH. These deposits, which look like warts, can also appear on the eyelids, knees, heels, or elbows.