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Familial hypercholesterolemia: The lipids or the genes?

Show simple item record Fahed A.C. Nemer G.M.
dc.contributor.editor 2011 2017-10-05T15:30:56Z 2017-10-05T15:30:56Z 2011
dc.identifier 10.1186/1743-7075-8-23
dc.identifier.issn 17437075
dc.description.abstract Familial Hypercholesterolemia (FH) is a common cause of premature cardiovascular disease and is often undiagnosed in young people. Although the disease is diagnosed clinically by high LDL cholesterol levels and family history, to date there are no single internationally accepted criteria for the diagnosis of FH. Several genes have been shown to be involved in FH; yet determining the implications of the different mutations on the phenotype remains a hard task. The polygenetic nature of FH is being enhanced by the discovery of new genes that serve as modifiers. Nevertheless, the picture is still unclear and many unknown genes contributing to the phenotype are most likely involved. Because of this evolving polygenetic nature, the diagnosis of FH by genetic testing is hampered by its cost and effectiveness. In this review, we reconsider the clinical versus genetic nomenclature of FH in the literature. After we describe each of the genetic causes of FH, we summarize the known correlation with phenotypic measures so far for each genetic defect. We then discuss studies from different populations on the genetic and clinical diagnoses of FH to draw helpful conclusions on cost-effectiveness and suggestions for diagnosis. © 2011 Fahed and Nemer; licensee BioMed Central Ltd.
dc.language English
dc.publisher LONDON
dc.relation.ispartof Publication Name: Nutrition and Metabolism; Publication Year: 2011; Volume: 8;
dc.source Scopus
dc.title Familial hypercholesterolemia: The lipids or the genes?
dc.type Review
dc.contributor.affiliation Fahed, A.C., Department of Biochemistry, American University of Beirut, Bliss Street, Beirut, Lebanon
dc.contributor.affiliation Nemer, G.M., Department of Biochemistry, American University of Beirut, Bliss Street, Beirut, Lebanon
dc.contributor.authorAddress Nemer, G. M.; Department of Biochemistry, American University of Beirut, Bliss Street, Beirut, Lebanon; email:
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Biochemistry and Molecular Genetics;
dc.contributor.authorDepartment Biochemistry and Molecular Genetics
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials Fahed, AC
dc.contributor.authorInitials Nemer, GM
dc.contributor.authorReprintAddress Nemer, GM (reprint author), Amer Univ Beirut, Dept Biochem, Bliss St,POB 11-0236, Beirut, Lebanon.
dc.contributor.authorUniversity American University of Beirut Medical Center
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dc.description.citedCount 19
dc.description.citedTotWOSCount 16
dc.description.citedWOSCount 15
dc.format.extentCount 1
dc.identifier.articleNo 23
dc.identifier.scopusID 79955017150
dc.publisher.address 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND
dc.relation.ispartOfISOAbbr Nutr. Metab.
dc.relation.ispartofPubTitle Nutrition and Metabolism
dc.relation.ispartofPubTitleAbbr Nutr. Metab.
dc.relation.ispartOfVolume 8
dc.source.ID WOS:000291092700001
dc.type.publication Journal
dc.subject.otherChemCAS proprotein convertase 1, 99676-46-7
dc.subject.otherIndex apolipoprotein B100
dc.subject.otherIndex low density lipoprotein cholesterol
dc.subject.otherIndex proprotein convertase 1
dc.subject.otherIndex autosomal recessive disorder
dc.subject.otherIndex cholesterol metabolism
dc.subject.otherIndex cost effectiveness analysis
dc.subject.otherIndex familial hypercholesterolemia
dc.subject.otherIndex gene mutation
dc.subject.otherIndex genetic disorder
dc.subject.otherIndex genetic risk
dc.subject.otherIndex genetic screening
dc.subject.otherIndex genetic variability
dc.subject.otherIndex genotype
dc.subject.otherIndex heredity
dc.subject.otherIndex human
dc.subject.otherIndex nomenclature
dc.subject.otherIndex phenotype
dc.subject.otherIndex population
dc.subject.otherIndex review
dc.subject.otherKeywordPlus LDL-RECEPTOR GENE
dc.subject.otherKeywordPlus MUTATION DETECTION RATE
dc.subject.otherKeywordPlus CORONARY-HEART-DISEASE
dc.subject.otherKeywordPlus APOLIPOPROTEIN B-100
dc.subject.otherKeywordPlus CLINICAL-DIAGNOSIS
dc.subject.otherKeywordPlus LEBANESE ALLELE
dc.subject.otherKeywordPlus PCSK9
dc.subject.otherKeywordPlus CHOLESTEROL
dc.subject.otherKeywordPlus PHENOTYPE
dc.subject.otherWOS Nutrition and Dietetics

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