Abstract 13280: Prevalence and Location of Cardiovascular Disease in Familial Hypercholesterolemia and Unaffected Relatives. SAFEHEART (Spanish Familial Hypercholesterolemia Longitudinal Cohort Study) Results

• DOI: 10.1161/circ.132.suppl_3.13280
• Publication Date: 2024-04-23T10:56:22Z
• Authors: Adriana Saltijera...; Leopoldo Perez de...; Rodrigo Alonso; Raimundo de Andres; Pablo Miramontes; Daniel Zambon; Juan F Sanchez Mu...; Teresa Padro; Fatima Almagro; Pedro Mata

Introduction: Heterozygous familial hypercholesterolemia (HeFH) increases the risk of cardiovascular disease. Traditionally it has been reported that the most affected territory is the coronary arteries tree. However, there are very few data from large cohorts of HeFH and even fewer data comparing them with a control population.

Hypotesis: To analyse the prevalence and location of cardiovascular disease in individuals with HeFH and their families with negative genetic diagnosis in a large study.

Methods: Data from the study, which recruited 3745 individuals aged 18 and olderbetween January 2004 and November 2013 were analysed. Out of them, 2752 were genetically diagnosesof HeFH and 993 were family members without the mutation.

Results: Median age of individuals with HeFH was 44 years (18-89) and 40 (18-87) in unaffected relatives. One thousand, two hundred and sixty four (45.90%) HeFH and 463 (46.60%) controls were male. Table and figure show atherothrombotic disease prevalence in different locations.

Conclusions: The prevalence of atherothrombotic disease is higher in individuals with HeFH than in their unaffected relatives. In HeFH patients, the predominant involvement is at the level of the coronary tree.