Articles producció científica> Medicina i Cirurgia

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

  • Identification data

    Identifier: imarina:5251996
    Authors:
    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
    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 condi
  • Others:

    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: luis.masana@urv.cat
    Author identifier: 0000-0002-0789-4954
    Record's date: 2024-09-07
    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: https://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
  • Keywords:

    Cardiology and Cardiovascular Medicine,Endocrinology, Diabetes and Metabolism,Internal Medicine,Nutrition and Dietetics,Pharmacology & Pharmacy
    Paper
    Panel
    Goals
    Familial hypercholesterolemia
    Electronic health records
    Disease
    Diagnosis
    Children
    Cardiovascular disease
    electronic health records
    cardiovascular disease
    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
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