Familial Hypercholesterolemia 

Familial hypercholesterolemia is the most common cholesterol metabolism disorder and causes elevated plasma LDL-C cholesterol levels, which increases the predisposition to atherosclerosis and premature cardiovascular disease.

Familial hypercholesterolemia (FH) is an inherited disease that is expressed from birth and is associated with increased plasma cholesterol concentrations, mainly low-density lipoprotein cholesterol, better known as LDL cholesterol (LDL-C) or "bad cholesterol".

Familial FH is due to the presence of pathogenic variants in several genes, such as APOB, LDLR or PCSK9, and affects the body's ability to metabolize cholesterol efficiently, so it is important to treat it to prevent complications in the cardiovascular system.

It is a relatively common disorder, with an estimated 1 in 400 people in the general population having hypercholesterolemia. In certain populations such as Ashkenazi Jews, French Canadians, Finns, Africans, Druze and Lebanese, the frequency is considerable, affecting 1 in 67 people.

Symptoms

FH is characterized by three characteristic clinical manifestations: elevated LDL-C levels, accumulation of fats (xanthomas) under the skin surface and/or in the tendons, and premature atherosclerotic cardiovascular disease.

The importance of early diagnosis lies in the increased risk of myocardial infarction or other atherosclerotic disease at an early age. In approximately 50% of patients, cardiovascular disease manifests itself before the age of 55 years.

Disease management

Control lipid levels with the use of statins and other drugs under medical supervision.

The risk of cardiovascular disease should be minimized, so adults are advised to stop smoking, engage in regular physical activity, follow a balanced diet and control their weight.

Children with FH should see a specialist in lipid disorders and follow a diet adapted to their age.

Genes analyzed

APOB LDLR

Bibliography

Benito-Vicente A, Uribe KB, Jebari S, et al . Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease. Int J Mol Sci. 2018 Nov 1;19(11):3426.

Chora JR, Iacocca MA, Tichý L, Wand H, et al . The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification. Genet Med. 2022 Feb;24(2):293-306.

Di Taranto MD, Giacobbe C, Fortunato G. Familial hypercholesterolemia: A complex genetic disease with variable phenotypes. Eur J Med Genet. 2020 Apr;63(4):103831.

Ison HE, Clarke SL, Knowles JW. Familial Hypercholesterolemia. 2014 Jan 2 [updated 2022 Jul 7]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

Nohara A, Tada H, Ogura M, et al. J Atheroscler Thromb. 2021 Jul 1;28(7):665-678.

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