Alberto Zamora1, Luís Masana2, Marc Comas-Cufí3, Àlex Vila4, Núria Plana2, Maria García-Gil3, Lia Alves-Cabratosa3, Jaume Marrugat5, Irene Roman5, Rafel Ramos6. 1. Department of Medical Sciences, School of Medicine, Campus Salut, University of Girona, Girona, Spain; Laboratory of Translational Medicine (Translab), School of Medicine, University of Girona, Girona, Spain; Xarxa de Unitats de Lipids de Catalunya (XULA), Girona, Spain; Lipids and Arteriosclerosis Unit, Blanes Hospital, Girona, Spain. 2. Xarxa de Unitats de Lipids de Catalunya (XULA), Girona, Spain; Lipids and Arteriosclerosis Research Unit, "Sant Joan" University Hospital, and Internal Medicine Department, IISPV, Universitat Rovira i Virgili, CIBERDEM, Reus, Spain. 3. Institut Universitari d'Investigació en Atenció Primària Jordi Gol (IDIAP Jordi Gol), Catalunya, Spain; ISV Research Group, Research Unit in Primary Care, Girona, Catalan Institute of Health (ICS), Catalonia, Spain. 4. Lipids and Arteriosclerosis Unit, Figueres Hospital, Girona, Spain. 5. Cardiovascular Epidemiology and Genetics Research Group, IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain. 6. Department of Medical Sciences, School of Medicine, Campus Salut, University of Girona, Girona, Spain; Institut Universitari d'Investigació en Atenció Primària Jordi Gol (IDIAP Jordi Gol), Catalunya, Spain; ISV Research Group, Research Unit in Primary Care, Girona, Catalan Institute of Health (ICS), Catalonia, Spain; Biomedical Research Institute, Girona (IdIBGi), ICS, Catalunya, Spain. Electronic address: rramos.girona.ics@gencat.cat.
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.
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.
Authors: Nadeem Qureshi; Maria Luisa R Da Silva; Hasidah Abdul-Hamid; Stephen F Weng; Joe Kai; Jo Leonardi-Bee Journal: Cochrane Database Syst Rev Date: 2021-10-07
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Authors: Barbara Iyen; Nadeem Qureshi; Stephen Weng; Paul Roderick; Joe Kai; Nigel Capps; Paul N Durrington; Ian Fw McDowell; Handrean Soran; Andrew Neil; Steve E Humphries Journal: Atherosclerosis Date: 2020-10-31 Impact factor: 5.162
Authors: Filippo Romanelli; AnthonyMarco Corbo; Maryam Salehi; Manisha C Yadav; Soha Salman; David Petrosian; Omid J Rashidbaigi; Jesse Chait; Jes Kuruvilla; Maria Plummer; Ilian Radichev; Kenneth B Margulies; A Martin Gerdes; Anthony B Pinkerton; José Luis Millán; Alexei Y Savinov; Olga V Savinova Journal: PLoS One Date: 2017-10-12 Impact factor: 3.240