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Rare Disease Forum by Genetidoc Genetic Clinic Forums Genetic Rare Diseases Hypercholesterolemia Is it medically proven that high cholesterol can be genetic?

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      Anonymous
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      Is it medically proven that high cholesterol can be genetic?

    • #510

      Yes, this is well established in medical literature. The clearest example is familial hypercholesterolemia, an inherited condition caused by changes in specific genes involved in how the body clears low-density lipoprotein cholesterol from the blood. The genes most commonly involved are LDLR, APOB, and PCSK9. A change in any one of these genes can prevent the liver from removing low-density lipoprotein cholesterol efficiently, leading to very high cholesterol levels from birth, well before diet or lifestyle factors come into play. Familial hypercholesterolemia follows a clear inheritance pattern within families, and children of an affected parent have a fifty percent chance of inheriting the same gene change. Beyond this single-gene form, research has also identified many common genetic variations that each contribute a small effect, together explaining why cholesterol levels tend to run in families even without a single identifiable gene change. So genetic contribution to high cholesterol is not a theory; it is a confirmed and well-studied mechanism.

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