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Review
. 2022 Sep;51(3):511-537.
doi: 10.1016/j.ecl.2022.02.006. Epub 2022 Jul 4.

The Inherited Hypercholesterolemias

Wann Jia Loh  1 , Gerald F Watts  2
Affiliations
Review

The Inherited Hypercholesterolemias

Wann Jia Loh et al. Endocrinol Metab Clin North Am. 2022 Sep.

Abstract

Inherited hypercholesterolemias include monogenic and polygenic disorders, which can be very rare (eg, cerebrotendinous xanthomatosis (CTX)) or relatively common (eg, familial combined hyperlipidemia [FCH]). In this review, we discuss familial hypercholesterolemia (FH), FH-mimics (eg, polygenic hypercholesterolemia [PH], FCH, sitosterolemia), and other inherited forms of hypercholesterolemia (eg, hyper-lipoprotein(a) levels [hyper-Lp(a)]). The prevalence, genetics, and management of inherited hypercholesterolemias are described and selected guidelines summarized.

Keywords: Familial combined hyperlipidemia; Familial hypercholesterolemia; Inherited hypercholesterolemia; Lipoprotein(a); Polygenic hypercholesterolemia.

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Conflict of interest statement

Disclosure GFW has received honoraria for advisory boards and research grants from Amgen, Arrowhead, Esperion, AstraZenca, Kowa, Novartis, Pfizer, Sanofi and Regeneron.

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