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Familial Hypercholesterolemia

You’ve probably heard that “bad” cholesterol isn’t good for your heart.

High levels of low-density lipoprotein (LDL) – known as the “bad” cholesterol – are most often linked to a high-fat diet, not exercising enough or being overweight. But some people are born with dangerously high levels of this type of cholesterol because their body has a hard time clearing it from their blood. They have what is called familial hypercholesterolemia (FH).

FH is passed down in families. It happens when there is a harmful change in one of several genes in the body. Most often, the gene change (or variant) is in the LDL-receptor gene, which normally helps remove LDL cholesterol from the blood. If this gene isn’t working as it should and the liver continues to make cholesterol, then LDL cholesterol levels rise.

Having such high levels of LDL cholesterol in the blood from such a young age puts people with FH at very high risk of heart disease, having a heart attack or stroke, or dying in the prime of their lives – often with no warning. 

About 1 in 250 people have FH. Yet, only about 1 out of 5 know they have it. Without treatment, FH can lead to heart and blood vessel disease – heart attack, stroke or death – at very young ages.

Finding and treating FH early is essential to lower LDL cholesterol levels, prevent heart attack or stroke, and save lives.

The good news is that when FH is found and treated early, LDL cholesterol can be lowered. Stepped up and early treatment can greatly lower risk and, in some cases, even get risk down to nearly that of the general population.

Use this condition center to learn about the different types of FH and how to treat them. Knowing that you or a loved one has FH early on is key to being able to take steps to treat it and can help prevent life-threatening problems.

  • Last Edited 03/09/2022

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CardioSmart is supported in part by Regeneron Pharmaceuticals.