Pérez de Isla, LeopoldoAlonso, RodrigoMata, NelvaSaltijeral, AdrianaMuñiz, OvidioRubio-Marin, PatriciaDiaz-Diaz, José LFuentes, Franciscode Andrés, RaimundoZambón, DanielGaliana, JesúsPiedecausa, MarAguado, RocioMosquera, DanielVidal, José IRuiz, EnriqueManjón, LauraMauri, MartaPadró, TeresaMiramontes, José PMata, PedroSAFEHEART Investigators2023-01-252023-01-252016-07-21http://hdl.handle.net/10668/10296Heterozygous 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.encoronary diseasegeneticshypercholesterolemiaperipheral vascular diseasesstrokeAdultAge of OnsetAgedApolipoprotein B-100Case-Control StudiesComorbidityCoronary DiseaseFemaleGenetic Predisposition to DiseaseHeredityHeterozygoteHumansHyperlipoproteinemia Type IIMaleMiddle AgedMolecular EpidemiologyMutationPedigreePeripheral Arterial DiseasePhenotypePrevalenceProspective StudiesReceptors, LDLRegistriesRisk AssessmentRisk FactorsSex FactorsSmokingSpainStrokeresearch article27444203open access10.1161/ATVBAHA.116.3075141524-4636https://www.ahajournals.org/doi/pdf/10.1161/ATVBAHA.116.307514