000118848 001__ 118848 000118848 005__ 20240319081013.0 000118848 0247_ $$2doi$$a10.1186/s12944-022-01671-5 000118848 0248_ $$2sideral$$a130274 000118848 037__ $$aART-2022-130274 000118848 041__ $$aeng 000118848 100__ $$aMarco-Benedí, Victoria$$uUniversidad de Zaragoza 000118848 245__ $$aCurrent causes of death in familial hypercholesterolemia 000118848 260__ $$c2022 000118848 5060_ $$aAccess copy available to the general public$$fUnrestricted 000118848 5203_ $$aBackground Familial hypercholesterolemia (FH) is a codominant autosomal disease characterized by high low-density lipoprotein cholesterol (LDLc) and a high risk of premature cardiovascular disease (CVD). The molecular bases have been well defined, and effective lipid lowering is possible. This analysis aimed to study the current major causes of death of genetically defined heterozygous familial hypercholesterolemia (heFH). Methods A case‒control study was designed to analyse life-long mortality in a group of heFH and control families. Data from first-degree family members of cases and controls (nonconsanguineous cohabitants), including deceased relatives, were collected from a questionnaire and review of medical records. Mortality was compared among heFH patients, nonheFH patients, and nonconsanguineous family members. Results A total of 813 family members were analysed, 26.4% of whom were deceased. Among the deceased, the mean age of death was 69.3 years in heFH individuals, 73.5 years in nonheFH individuals, and 73.2 years in nonconsanguineous individuals, without significant differences. CVD was the cause of death in 59.7% of heFH individuals, 37.7% of nonheFH individuals, and 37.4% of nonconsanguineous individuals (P = 0.012). These differences were greater after restricting the analyses to parents. The hazard ratio of dying from CVD was 2.85 times higher (95% CI, (1.73–4.69) in heFH individuals than in individuals in the other two groups (non-FH and nonconsanguineous), who did not differ in their risk. Conclusions CVD mortality in heFH individuals is lower and occurs later than that described in the last century but is still higher than that in non-FH individuals. This improved prognosis of CVD risk is not associated with changes in non-CVD mortality. 000118848 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B14$$9info:eu-repo/grantAgreement/ES/ISCIII-MINECO/PI19-00694$$9info:eu-repo/grantAgreement/ES/MINECO/PI18-01777 000118848 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/ 000118848 590__ $$a4.5$$b2022 000118848 592__ $$a1.042$$b2022 000118848 591__ $$aNUTRITION & DIETETICS$$b34 / 87 = 0.391$$c2022$$dQ2$$eT2 000118848 591__ $$aBIOCHEMISTRY & MOLECULAR BIOLOGY$$b101 / 285 = 0.354$$c2022$$dQ2$$eT2 000118848 593__ $$aBiochemistry (medical)$$c2022$$dQ1 000118848 593__ $$aEndocrinology, Diabetes and Metabolism$$c2022$$dQ1 000118848 593__ $$aClinical Biochemistry$$c2022$$dQ1 000118848 593__ $$aEndocrinology$$c2022$$dQ2 000118848 594__ $$a8.1$$b2022 000118848 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion 000118848 700__ $$aBea, Ana M. 000118848 700__ $$aCenarro, Ana 000118848 700__ $$0(orcid)0000-0001-9142-0737$$aJarauta, Estíbaliz$$uUniversidad de Zaragoza 000118848 700__ $$0(orcid)0000-0003-3963-0846$$aLaclaustra, Martín$$uUniversidad de Zaragoza 000118848 700__ $$0(orcid)0000-0001-7043-0952$$aCiveira, Fernando$$uUniversidad de Zaragoza 000118848 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina 000118848 773__ $$g21, 64 (2022), [9 pp.]$$pLipids health dis.$$tLipids in Health and Disease$$x1476-511X 000118848 8564_ $$s1531615$$uhttps://zaguan.unizar.es/record/118848/files/texto_completo.pdf$$yVersión publicada 000118848 8564_ $$s2452675$$uhttps://zaguan.unizar.es/record/118848/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada 000118848 909CO $$ooai:zaguan.unizar.es:118848$$particulos$$pdriver 000118848 951__ $$a2024-03-18-15:19:19 000118848 980__ $$aARTICLE