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Current Cardiology Reports

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Open Access 01-05-2017 | Lipid Abnormalities and Cardiovascular Prevention (G De Backer, Section Editor)

Genetic Architecture of Familial Hypercholesterolaemia

Authors: Mahtab Sharifi, Marta Futema, Devaki Nair, Steve E. Humphries

Published in: Current Cardiology Reports | Issue 5/2017

Abstract

Purpose of Review

Familial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol level from birth and a high risk of premature coronary heart disease. In this paper, we review the genetic basis of FH and its impact on the clinical presentation.

Recent Findings

Mutations in any of three genes (LDLR, APOB and PCSK9) are known to cause autosomal dominant FH, but a mutation can be found in only ∼40% of patients with a clinical diagnosis of FH. In the remainder, a polygenic aetiology is most likely, due to the co-inheritance of common LDL-C-raising variants. The cardiovascular presentation and management of FH will differ between patients based on their underlying genetic factors.

Summary

New genotyping methods such as next-generation sequencing will provide us with better understanding of the genetic architecture of FH.

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Title: Genetic Architecture of Familial Hypercholesterolaemia
Authors: Mahtab Sharifi
Marta Futema
Devaki Nair
Steve E. Humphries
Publication date: 01-05-2017
Publisher: Springer US
Published in: Current Cardiology Reports / Issue 5/2017
Print ISSN: 1523-3782
Electronic ISSN: 1534-3170
DOI: https://doi.org/10.1007/s11886-017-0848-8

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