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Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry
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Advisor(s)
Abstract(s)
Background and aims: Familial hypercholesterolemia (FH) is an autosomal dominant disease of cholesterol
metabolism that confers an increased risk of premature atherosclerotic cardiovascular disease
(ASCVD). Therefore, early identification and treatment of these patients can improve prognosis and
reduce the burden of cardiovascular mortality. The aim of this work was to perform the mutational
analysis of the SAFEHEART (Spanish Familial Hypercholesterolaemia Cohort Study) registry.
Methods: The study recruited 2938 individuals with genetic diagnosis of FH belonging to 775 families.
Statistical analysis was performed using SPSS v23.
Results: A total of 194 variants have been detected in this study, 24 of them were never described before.
About 88% of the patients have a pathogenic or likely pathogenic variant. Patients with null variants have
a more severe phenotype than patients with defective variants, presenting with significantly higher
levels of atherogenic particles (total cholesterol, LDL-cholesterol and apolipoprotein B).
Conclusions: This study shows the molecular characteristics of the FH patients included in the SAFEHEART
registry and the relationship with the phenotypic expression. The majority of the genetic variants
are considered to be pathogenic or likely pathogenic, which confers a high level of confidence to the
entry and follow-up data analysis performed with this registry concerning FH patients' prognosis,
treatment and survival.
Description
Keywords
Familial Hypercholesterolemia Mutational Analysis Null Variants Defective Variants Atherogenic Lipoprotein Particles Doenças Cardio e Cérebro-vasculares
Pedagogical Context
Citation
Atherosclerosis. 2017 Jul;262:8-13. doi: 10.1016/j.atherosclerosis.2017.04.002. Epub 2017 Apr 6
Publisher
Elsevier