Familial hypercholesterolaemia

dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorDEFESCHE, Joep C.
dc.contributor.authorGIDDING, Samuel S.
dc.contributor.authorHARADA-SHIBA, Mariko
dc.contributor.authorHEGELE, Robert A.
dc.contributor.authorSANTOS, Raul D.
dc.contributor.authorWIERZBICKI, Anthony S.
dc.date.accessioned2018-03-06T15:15:18Z
dc.date.available2018-03-06T15:15:18Z
dc.date.issued2017
dc.description.abstractFamilial hypercholesterolaemia is a common inherited disorder characterized by abnormally elevated serum levels of low-density lipoprotein (LDL) cholesterol from birth, which in time can lead to cardiovascular disease CVD). Most cases are caused by autosomal dominant mutations in LDLR, which encodes the LDL receptor, although mutations in other genes coding for proteins involved in cholesterol metabolism or LDLR function and processing, such as APOB and PCSK9, can also be causative, although less frequently. Several sets of diagnostic criteria for familial hypercholesterolaemia are available; common diagnostic features are an elevated LDL cholesterol level and a family history of hypercholesterolaemia or (premature) CVD. DNA-based methods to identify the underlying genetic defect are desirable but not essential for diagnosis. Cascade screening can contribute to early diagnosis of the disease in family members of an affected individual, which is crucial because familial hypercholesterolaemia can be asymptomatic for decades. Clinical severity depends on the nature of the gene that harbours the causative mutation, among other factors, and is further modulated by the type of mutation. Lifelong LDL cholesterol-lowering treatment substantially improves CVD-free survival and longevity. Statins are the first-line therapy, but additional drugs, such as ezetimibe, bile acid sequestrants, PCSK9 inhibitors and other emerging therapies, are often required.
dc.description.indexMEDLINE
dc.description.sponsorshipAmgen
dc.description.sponsorshipAstellas
dc.description.sponsorshipSanofi
dc.description.sponsorshipMSD
dc.description.sponsorshipAstra Zeneca
dc.description.sponsorshipBoehringer Ingelheim
dc.description.sponsorshipOtsuka
dc.description.sponsorshipDaiichi-Sankyo
dc.description.sponsorshipSanofi/Regeneron
dc.identifier.citationNATURE REVIEWS DISEASE PRIMERS, v.3, article ID 17093, 20p, 2017
dc.identifier.doi10.1038/nrdp.2017.93
dc.identifier.issn2056-676X
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/25508
dc.language.isoeng
dc.publisherNATURE PUBLISHING GROUP
dc.relation.ispartofNature Reviews Disease Primers
dc.rightsrestrictedAccess
dc.rights.holderCopyright NATURE PUBLISHING GROUP
dc.subject.otherdensity-lipoprotein-receptor
dc.subject.othernational lipid association
dc.subject.otherautosomal-dominant hypercholesterolemia
dc.subject.otherplacebo-controlled trial
dc.subject.othereuropean atherosclerosis society
dc.subject.othertransfer protein inhibitor
dc.subject.otherelevated ldl cholesterol
dc.subject.otheracute coronary syndromes
dc.subject.othermontreal-fh-score
dc.subject.othercardiovascular-disease
dc.subject.wosMedicine, General & Internal
dc.titleFamilial hypercholesterolaemia
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.affiliation.countryHolanda
hcfmusp.affiliation.countryInglaterra
hcfmusp.affiliation.countryEstados Unidos
hcfmusp.affiliation.countryCanadá
hcfmusp.affiliation.countryJapão
hcfmusp.affiliation.countryisonl
hcfmusp.affiliation.countryisous
hcfmusp.affiliation.countryisojp
hcfmusp.affiliation.countryisoca
hcfmusp.affiliation.countryisogb
hcfmusp.author.externalDEFESCHE, Joep C.:Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, POB 22-660, NL-1100 DD Amsterdam, Netherlands
hcfmusp.author.externalGIDDING, Samuel S.:Alfred I DuPont Hosp Children, Nemours Cardiac Ctr, Wilmington, DE USA
hcfmusp.author.externalHARADA-SHIBA, Mariko:Natl Cerebral & Cardiovasc Ctr, Res Inst, Dept Mol Innovat Lipidol, Suita, Osaka, Japan
hcfmusp.author.externalHEGELE, Robert A.:Schulich Sch Med & Dent, Dept Med, London, ON, Canada; Univ Western Ontario, Robarts Res Inst, 4288A 1151 Richmond St North, London, ON N6A 5B7, Canada
hcfmusp.author.externalWIERZBICKI, Anthony S.:Guys & St Thomas Hosp, Metab Med & Chem Pathol, London, England
hcfmusp.citation.scopus299
hcfmusp.contributor.author-fmusphcRAUL DIAS DOS SANTOS FILHO
hcfmusp.description.articlenumber17093
hcfmusp.description.volume3
hcfmusp.origemWOS
hcfmusp.origem.pubmed29219151
hcfmusp.origem.scopus2-s2.0-85045988080
hcfmusp.origem.wosWOS:000417650300001
hcfmusp.publisher.cityLONDON
hcfmusp.publisher.countryENGLAND
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