Publication:
Coronary Heart Disease, Peripheral Arterial Disease, and Stroke in Familial Hypercholesterolaemia: Insights From the SAFEHEART Registry (Spanish Familial Hypercholesterolaemia Cohort Study).

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2016-07-21

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Pérez de Isla, Leopoldo
Alonso, Rodrigo
Mata, Nelva
Saltijeral, Adriana
Muñiz, Ovidio
Rubio-Marin, Patricia
Diaz-Diaz, José L
Fuentes, Francisco
de Andrés, Raimundo
Zambón, Daniel

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Abstract

Heterozygous familial hypercholesterolemia (FH) is the most common premature atherosclerotic cardiovascular disease (ASCVD)-related monogenic disorder, and it is associated with ischemic heart disease. There is limited information whether FH increases the risk of peripheral arterial and cerebrovascular disease. Our aim was to analyze ASCVD prevalence and characteristics in different arterial territories in a large FH population, to compare them with an unaffected control population and to determine which factors are associated to ASCVD. SAFEHEART (Spanish Familial Hypercholesterolaemia Cohort Study) is an ongoing registry of molecularly defined patients with heterozygous FH in Spain. ASCVD in the different arterial territories was analyzed, as well as individual characteristics, genetic variables, and lipid-lowering therapies. The study recruited 4132 subjects (3745 ≥18 years); 2,752 of those enrolled were molecularly diagnosed FH cases. Median age was 44.0 years (45.9% men) and 40 years (46.6% men) in FH patients and unaffected relatives (P50 mg/dL were independently associated with ASCVD. The prevalence of ASCVD is higher, and the involvement of the arterial territories is different in FH patients when compared with their unaffected relatives. Age, male sex, increased body mass index, hypertension, type 2 diabetes mellitus, smoking habit, and lipoprotein(a) >50 mg/dL were independently associated to ASCVD. URL: https://www.clinicaltrials.gov. Unique identifier: NCT02693548.

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MeSH Terms

Adult
Age of Onset
Aged
Apolipoprotein B-100
Case-Control Studies
Comorbidity
Coronary Disease
Female
Genetic Predisposition to Disease
Heredity
Heterozygote
Humans
Hyperlipoproteinemia Type II
Male
Middle Aged
Molecular Epidemiology
Mutation
Pedigree
Peripheral Arterial Disease
Phenotype
Prevalence
Prospective Studies
Receptors, LDL
Registries
Risk Assessment
Risk Factors
Sex Factors
Smoking
Spain
Stroke

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Keywords

coronary disease, genetics, hypercholesterolemia, peripheral vascular diseases, stroke

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