The Inherited Hypercholesterolemias.

Wann Jia Loh, Gerald F Watts

Journal: Endocrinology and metabolism clinics of North America 2022;51(3):511-537

PMID: 35963626

Full Text on Elsevier Science View on PubMed

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.

Address: Department of Endocrinology, Changi General Hospital, 2 Simei Street 3, Singapore 529889. Electronic address: [email protected].; School of Medicine, University of Western Australia, 35 Stirling Hwy, Crawley, Western Australia 6009, Australia; Department of Cardiology and Internal Medicine, Royal Perth Hospital, Victoria Square, Perth, Western Australia 6000, Australia.

DOI: 10.1016/j.ecl.2022.02.006

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MeSH Terms: Humans, Hypercholesterolemia, Hyperlipoproteinemia Type II, Intestinal Diseases, Lipid Metabolism, Inborn Errors, Phytosterols