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Familial Hypercholesterolemia

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Genetic Causes of Cardiac Disease

Part of the book series: Cardiac and Vascular Biology ((Abbreviated title: Card. vasc. biol.,volume 7))

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Abstract

Familial Hypercholesterolemia (FH) is one of the most common inherited lipid disorders, with recent studies estimating a prevalence as high as 1 in 200 people [1–3]. Inherited in an autosomal-dominant fashion, it is associated with lifelong, severe elevations in low-density lipoprotein-cholesterol (LDL-c) levels. Individuals with FH have a markedly elevated risk of premature ischemic heart disease, 5–20-fold higher than the general population [4–6]. Mutations in the genes for the LDL receptor (LDLR), apolipoprotein B-100 (APOB), as well as gain of function mutations in the proprotein convertase subtulisin/kexin type 9 protein (PCSK9) have all been associated with the pathogenesis of FH [6]. Appropriate management can dramatically improve the life expectancy of those with FH [6]; however, many patients experience delayed diagnosis and inadequate cholesterol lowering [1], underscoring the need for increased awareness, recognition, and timely treatment of this disorder in the general community.

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Correspondence to Joshua W. Knowles .

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Sarraju, A., Knowles, J.W. (2019). Familial Hypercholesterolemia. In: Erdmann, J., Moretti, A. (eds) Genetic Causes of Cardiac Disease. Cardiac and Vascular Biology, vol 7. Springer, Cham. https://doi.org/10.1007/978-3-030-27371-2_6

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