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.


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*


  • Phytosterols