The doctor's dilemma: Challenges in the diagnosis and care of homozygous familial hypercholesterolemia

Highlights ► We address clinical challenges in the diagnosis and management of familial hypercholesterolemia patients ► We address the controversies in diagnosing homozygous FH ► We offer a clinical care pathway to identify and manage patients with varying phenotypic severity of FH ► We address the...

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Published inJournal of clinical lipidology Vol. 8; no. 6; pp. 542 - 549
Main Authors Baum, Seth J., MD, Sijbrands, E.J.G., MD, PhD, Mata, Pedro, MD, PhD, Watts, Gerald F., DSc, PhD, MD
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.11.2014
Subjects
Algorithms
Atherosclerosis - diagnosis
Atherosclerosis - drug therapy
Atherosclerosis - etiology
Benzimidazoles - therapeutic use
Cardiovascular
Consanguinity
Diagnosis, Differential
Genetic Testing
Homozygote
Humans
Hyperlipoproteinemia Type II - complications
Hyperlipoproteinemia Type II - diagnosis
Hyperlipoproteinemia Type II - drug therapy
Lipid Metabolism - drug effects
Lipid Metabolism - genetics
Mutation - genetics
Oligonucleotides - therapeutic use
Practice Guidelines as Topic
Receptors, LDL - genetics
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Summary:Highlights ► We address clinical challenges in the diagnosis and management of familial hypercholesterolemia patients ► We address the controversies in diagnosing homozygous FH ► We offer a clinical care pathway to identify and manage patients with varying phenotypic severity of FH ► We address the underdiagnosis and undertreatment of all FH patients ► We address genotyping and cascade screening in FH patients
Bibliography:SourceType-Other Sources-1
content type line 63
ObjectType-Editorial-2
ObjectType-Commentary-1
ISSN:1933-2874
1876-4789
DOI:10.1016/j.jacl.2014.09.005