Welcome to the UPF Digital Repository

Familial hypercholesterolemia in a European Mediterranean population-Prevalence and clinical data from 2.5 million primary care patients

Show simple item record

dc.contributor.author Zamora, Alberto
dc.contributor.author Masana, Luís
dc.contributor.author Comas Cufí, Marc
dc.contributor.author Vila, Alex
dc.contributor.author Plana, Nuria
dc.contributor.author Garcıa-Gil, Maria
dc.contributor.author Alves-Cabratosa, Lia
dc.contributor.author Marrugat de la Iglesia, Jaume
dc.contributor.author Roman Degano, Irene
dc.contributor.author Ramos, Rafel
dc.contributor.author XULA and ISV-Girona groups
dc.date.accessioned 2018-06-13T07:25:13Z
dc.date.available 2018-06-13T07:25:13Z
dc.date.issued 2017
dc.identifier.citation Zamora A, Masana L, Comas-Cufí M, Vila À, Plana N, García-Gil M. et al. Familial hypercholesterolemia in a European Mediterranean population-Prevalence and clinical data from 2.5 million primary care patients. J Clin Lipidol. 2017 Jul - Aug;11(4):1013-1022. DOI: 10.1016/j.jacl.2017.05.012
dc.identifier.issn 1876-4789
dc.identifier.uri http://hdl.handle.net/10230/34888
dc.description.abstract BACKGROUND: Familial hypercholesterolemia (FH), the most frequent hereditary cause of premature coronary heart disease (CHD), is underdiagnosed and insufficiently treated. OBJECTIVES: The objectives of the study were to estimate the prevalence of the FH phenotype (FH-P) and to describe its clinical characteristics in a Mediterranean population. METHODS: Data were obtained from the Catalan primary care system's clinical records database (Catalan acronym: SIDIAP). Patients aged >7 years with at least 1 low-density lipoprotein cholesterol measurement recorded between 2006 and 2014 (n = 2,554,644) were included. Heterozygous FH-P and homozygous FH-P were defined by untreated low-density lipoprotein cholesterol plasma concentrations. The presence of cardiovascular diseases and risk factors was defined by coded medical records from primary care and hospital discharge databases. RESULTS: The age- and sex-standardized prevalence of heterozygous FH-P and homozygous FH-P were 1/192 individuals and 1/425,774 individuals, respectively. In the group aged 8 to 18 years, 0.46% (95% confidence interval: 0.41-0.52) had FH-P; overall prevalence was 0.58% (95% confidence interval: 0.58-0.60). Among patients with FH-P aged >18 years, cardiovascular disease prevalence was 3.5 times higher than in general population, and CHD prevalence in those aged 35 to 59 years was 4.5 times higher than in those without FH-P. Lipid-lowering therapy was lacking in 13.5% of patients with FH-P, and only 31.6% of men and 22.7 of women were receiving high or very high-intensity lipid-lowering therapy. CONCLUSION: Prevalence of FH-P was higher than expected, but underdiagnosed and suboptimally treated, especially in women. Moreover, treatment started late considering the high CHD incidence associated with this condition.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Elsevier
dc.rights © Elsevier http://dx.doi.org/10.1016/j.jacl.2017.05.012
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.other Hipercolesterolèmia
dc.subject.other Sistema cardiovascular--Malalties
dc.title Familial hypercholesterolemia in a European Mediterranean population-Prevalence and clinical data from 2.5 million primary care patients
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1016/j.jacl.2017.05.012
dc.subject.keyword Cardiovascular disease
dc.subject.keyword Electronic health records
dc.subject.keyword Familial hypercholesterolemia
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


This item appears in the following Collection(s)

Show simple item record

Search DSpace


Advanced Search

Browse

My Account

Statistics

Compliant to Partaking