Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry

Mafalda Bourbon, Ana Catarina Alves, Rodrigo Alonso, Nelva Mata, Pedro Aguiar, Teresa Padró, Pedro Mata

Research output: Contribution to journalArticlepeer-review

32 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)8-13
Number of pages6
Publication statusPublished - 1 Jul 2017


  • Atherogenic lipoprotein particles
  • Defective variants
  • Familial hypercholesterolemia
  • Mutational analysis
  • Null variants


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