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Familial Hypercholesterolemia—Epidemiology, Diagnosis, and Screening

  • New Drugs Approved for Homozygous FH (SS Virani, Section Editor)
  • Published:
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Abstract

Familial hypercholesterolemia is among the commonest inherited metabolic disorders and is characterized by severely elevated LDL cholesterol levels. Mutations in four genes have been noted in patients with familial hypercholesterolemia (FH): LDL receptor (most common), apolipoprotein B (Apo B), proprotein convertase subtilin/kexin 9 (PCSK9), and low-density lipoprotein receptor adaptor protein (LDLRAP). In most cases, inheritance is autosomal co-dominant with homozygotes having double the LDL cholesterol levels of heterozygotes. Autosomal recessive inheritance is rare. The prevalence of the heterozygous state has been estimated at 1 in 200 to 1 in 500 and of the homozygous state from 1 in 160,000 to 1 in 1,000, 000. Three formal diagnostic criteria have been proposed to diagnose FH in practice-MedPed, Simon Broome, and Dutch Lipid Clinic Network. The role of genetic testing and cascade screening among families is discussed in this review.

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Abbreviations

CHD:

Coronary heart disease

FH:

Familial hypercholesterolemia

LDL-C:

Low-density lipoprotein cholesterol

LDLR:

Low-density lipoprotein receptor

LDLRAP1:

Low-density lipoprotein receptor adaptor protein 1

MI:

Myocardial infarction

NLA:

National Lipid Association

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Conflict of Interest

Siddharth Singh declares no conflict of interest.

Vera Bittner received grants from Amgen, Bayer Healthcare, Pfizer, Janssen Pharma, personal fees from Amgen, Eli Lilly, and contracts for service on trials to institution from Sanofi Aventis and Astra Zeneca.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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Correspondence to Vera Bittner.

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This article is part of the Topical Collection on New Drugs Approved for Homozygous FH

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Singh, S., Bittner, V. Familial Hypercholesterolemia—Epidemiology, Diagnosis, and Screening. Curr Atheroscler Rep 17, 3 (2015). https://doi.org/10.1007/s11883-014-0482-5

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