Familial hypercholesterolemia


What is familial hypercholesterolemia?

Familial hypercholesterolemia (FH) is a genetic condition that causes extremely high levels of LDL ("bad") cholesterol. The large amount of LDL leads to a severe coronary artery disease at a young age and significantly increases the risk for cardiovascular disease. The most common symptom is coronary artery disease (CAD). Untreated CAD may cause chest pains and/or heart attacks. Men living with FH who do not have treatment have a 50% chance to have a heart attack by age 50 and women living with FH who are untreated have a 30% chance by age 60.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/familial-hypercholesterolemia-109927/overview/66491 • DATE UPDATED: 2020-01-09


Nordestgaard BG, et. al. Eur Heart J. 2013;34:3478-90a.

Youngblom E, Pariani M, Knowles JW. Familial Hypercholesterolemia. 2014 Jan 2 [Updated 2016 Dec 8]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK174884/

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