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

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• dc.contributor.author Zamora, Albertoca
• dc.contributor.author Masana, Luísca
• dc.contributor.author Comas Cufí, Marcca
• dc.contributor.author Vila, Alexca
• dc.contributor.author Plana, Nuriaca
• dc.contributor.author Garcıa-Gil, Mariaca
• dc.contributor.author Alves-Cabratosa, Liaca
• dc.contributor.author Marrugat de la Iglesia, Jaumeca
• dc.contributor.author Roman Degano, Ireneca
• dc.contributor.author Ramos, Rafelca
• dc.contributor.author XULA and ISV-Girona groupsca
• dc.date.accessioned 2018-06-13T07:25:13Z
• dc.date.available 2018-06-13T07:25:13Z
• dc.date.issued 2017
• 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.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.doi http://dx.doi.org/10.1016/j.jacl.2017.05.012
• dc.identifier.issn 1876-4789
• dc.identifier.uri http://hdl.handle.net/10230/34888
• dc.language.iso eng
• dc.publisher Elsevierca
• dc.relation.ispartof Journal of Clinical Lipidology. 2017 Jul - Aug;11(4):1013-22
• dc.rights © Elsevier http://dx.doi.org/10.1016/j.jacl.2017.05.012
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/
• dc.subject.keyword Cardiovascular disease
• dc.subject.keyword Electronic health records
• dc.subject.keyword Familial hypercholesterolemia
• 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 patientsca
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion