Familial Hypercholesterolemia: An Under‐recognized but Significant Concern in Cardiology Practice

ABSTRACT Familial hypercholesterolemia (FH) is a common disorder in which genetic mutations in at least 1 of several genes lead to significantly increased levels of lipoproteins, in particular, low‐density lipoprotein cholesterol. Most commonly, mutations in the low‐density lipoprotein receptor gene...

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Bibliographic Details
Published in:Clinical cardiology (Mahwah, N.J.) N.J.), 2014-02, Vol.37 (2), p.119-125
Main Author: Foody, JoAnne M.
Format: Article
Language:English
Subjects:
Attitude of Health Personnel
Awareness
Biomarkers - blood
Cardiology
Cardiovascular disease
Cholesterol
Cholesterol - blood
Clinical Competence
Genetic Predisposition to Disease
Health Knowledge, Attitudes, Practice
Humans
Hyperlipoproteinemia Type II - blood
Hyperlipoproteinemia Type II - diagnosis
Hyperlipoproteinemia Type II - epidemiology
Hyperlipoproteinemia Type II - genetics
Hyperlipoproteinemia Type II - therapy
Hypolipidemic Agents - therapeutic use
Low density lipoprotein
Mutation
Phenotype
Physicians - psychology
Predictive Value of Tests
Review
Reviews
Risk Assessment
Risk Factors
Treatment Outcome
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Summary:ABSTRACT Familial hypercholesterolemia (FH) is a common disorder in which genetic mutations in at least 1 of several genes lead to significantly increased levels of lipoproteins, in particular, low‐density lipoprotein cholesterol. Most commonly, mutations in the low‐density lipoprotein receptor gene result in high plasma levels of apolipoprotein B‐containing lipoproteins (eg, low‐density lipoprotein and lipoprotein(a)). High plasma levels of lipoproteins increase the risk of cardiovascular events by as much as 20‐fold if left untreated. A 2011 survey of cardiologists performed by the American College of Cardiology (ACC) suggests that there is a need for greater awareness of FH among cardiologists with regard to its prevalence and heritability, and of the risk of cardiovascular (CV) disease associated with the disorder, such as premature coronary heart disease. Given that many patients with FH may first present to CV specialists at the time of a major coronary event, it is critical that cardiologists have strategies to manage this high‐risk subset of patients. This brief review responds to areas of need identified in the ACC survey and is intended to provide current information about FH and increase awareness about this disorder among cardiologists.
ISSN:0160-9289
1932-8737
DOI:10.1002/clc.22223