The Inherited Hypercholesterolemias

Wann Jia Loh; Gerald F Watts

doi:10.1016/j.ecl.2022.02.006

The Inherited Hypercholesterolemias

Endocrinol Metab Clin North Am. 2022 Sep;51(3):511-537. doi: 10.1016/j.ecl.2022.02.006. Epub 2022 Jul 4.

Authors

Wann Jia Loh¹, Gerald F Watts²

Affiliations

¹ Department of Endocrinology, Changi General Hospital, 2 Simei Street 3, Singapore 529889. Electronic address: loh.wann.jia@singhealth.com.sg.
² 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.

PMID: 35963626
DOI: 10.1016/j.ecl.2022.02.006

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.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Humans
Hypercholesterolemia*
Hyperlipoproteinemia Type II* / diagnosis
Hyperlipoproteinemia Type II* / epidemiology
Hyperlipoproteinemia Type II* / genetics
Intestinal Diseases*
Lipid Metabolism, Inborn Errors*
Phytosterols*

Substances

Phytosterols