Author, as appears in the article.: Zamora A, Masana L, Comas-Cufí M, Vila À, Plana N, García-Gil M, Alves-Cabratosa L, Marrugat J, Roman I, Ramos R, XULA and ISV-Girona groups

Department: Medicina i Cirurgia

URV's Author/s: Masana Marín, Luis / Plana Gil, Núria

Keywords: Paper Panel Goals Familial hypercholesterolemia Electronic health records Disease Diagnosis Children Cardiovascular disease electronic health records cardiovascular disease

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.

Thematic Areas: Saúde coletiva Pharmacology & pharmacy Nutrition and dietetics Nutrição Medicina ii Medicina i Internal medicine Interdisciplinar Farmacia Endocrinology, diabetes and metabolism Educação física Ciências biológicas ii Cardiology and cardiovascular medicine

licence for use: https://creativecommons.org/licenses/by/3.0/es/

ISSN: 19332874

Author's mail: nuria.plana@urv.cat luis.masana@urv.cat

Author identifier: 0000-0002-4231-7618 0000-0002-0789-4954

Record's date: 2023-02-18

Papper version: info:eu-repo/semantics/publishedVersion

Link to the original source: https://www.lipidjournal.com/article/S1933-2874(17)30338-0/fulltext

Licence document URL: http://repositori.urv.cat/ca/proteccio-de-dades/

Papper original source: Journal Of Clinical Lipidology. 11 (4): 1013-1022

APA: Zamora A, Masana L, Comas-Cufí M, Vila À, Plana N, García-Gil M, Alves-Cabratosa L, Marrugat J, Roman I, Ramos R, XULA and ISV-Girona groups (2017). Familial hypercholesterolemia in a European Mediterranean population -Prevalence and clinical data from 2.5 milion primary care patients.. Journal Of Clinical Lipidology, 11(4), 1013-1022. DOI: 10.1016/j.jacl.2017.05.012

Article's DOI: 10.1016/j.jacl.2017.05.012

Entity: Universitat Rovira i Virgili

Journal publication year: 2017

Publication Type: Journal Publications