118848 20240319081013.0 doi 10.1186/s12944-022-01671-5 sideral 130274 ART-2022-130274 eng Marco-Benedí, Victoria Universidad de Zaragoza Current causes of death in familial hypercholesterolemia 2022 Access copy available to the general public Unrestricted Background Familial hypercholesterolemia (FH) is a codominant autosomal disease characterized by high low-density lipoprotein cholesterol (LDLc) and a high risk of premature cardiovascular disease (CVD). The molecular bases have been well defined, and effective lipid lowering is possible. This analysis aimed to study the current major causes of death of genetically defined heterozygous familial hypercholesterolemia (heFH). Methods A case‒control study was designed to analyse life-long mortality in a group of heFH and control families. Data from first-degree family members of cases and controls (nonconsanguineous cohabitants), including deceased relatives, were collected from a questionnaire and review of medical records. Mortality was compared among heFH patients, nonheFH patients, and nonconsanguineous family members. Results A total of 813 family members were analysed, 26.4% of whom were deceased. Among the deceased, the mean age of death was 69.3 years in heFH individuals, 73.5 years in nonheFH individuals, and 73.2 years in nonconsanguineous individuals, without significant differences. CVD was the cause of death in 59.7% of heFH individuals, 37.7% of nonheFH individuals, and 37.4% of nonconsanguineous individuals (P = 0.012). These differences were greater after restricting the analyses to parents. The hazard ratio of dying from CVD was 2.85 times higher (95% CI, (1.73–4.69) in heFH individuals than in individuals in the other two groups (non-FH and nonconsanguineous), who did not differ in their risk. Conclusions CVD mortality in heFH individuals is lower and occurs later than that described in the last century but is still higher than that in non-FH individuals. This improved prognosis of CVD risk is not associated with changes in non-CVD mortality. info:eu-repo/grantAgreement/ES/DGA/B14 info:eu-repo/grantAgreement/ES/ISCIII-MINECO/PI19-00694 info:eu-repo/grantAgreement/ES/MINECO/PI18-01777 info:eu-repo/semantics/openAccess by http://creativecommons.org/licenses/by/3.0/es/ 4.5 2022 NUTRITION & DIETETICS 34 / 87 = 0.391 2022 Q2 T2 BIOCHEMISTRY & MOLECULAR BIOLOGY 101 / 285 = 0.354 2022 Q2 T2 1.042 2022 Biochemistry (medical) 2022 Q1 Endocrinology, Diabetes and Metabolism 2022 Q1 Clinical Biochemistry 2022 Q1 Endocrinology 2022 Q2 8.1 2022 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Bea, Ana M. Cenarro, Ana Jarauta, Estíbaliz Universidad de Zaragoza (orcid)0000-0001-9142-0737 Laclaustra, Martín Universidad de Zaragoza (orcid)0000-0003-3963-0846 Civeira, Fernando Universidad de Zaragoza (orcid)0000-0001-7043-0952 1007 610 Universidad de Zaragoza Dpto. Medicina, Psiqu. y Derm. Area Medicina 21, 64 (2022), [9 pp.] Lipids health dis. Lipids in Health and Disease 1476-511X 1531615 http://zaguan.unizar.es/record/118848/files/texto_completo.pdf Versión publicada 2452675 http://zaguan.unizar.es/record/118848/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:118848 articulos driver 2024-03-18-15:19:19 ARTICLE