Homozygous familial hypercholesterolemia in Spain. Data from Registry of the Spanish Atherosclerosis Society.

Autor:	Sánchez-Hernández RM; Sección de Endocrinología y Nutrición. Complejo Hospitalario Universitario Insular Materno-Infantil de Gran Canaria. Instituto Universitario de Investigaciones Biomédicas y Sanitarias de la Universidad de Las Palmas de Gran Canaria, Las Palmas De Gran Canaria, España., Ibarretxe D; Universitat Rovira i Virgili. Unidad de Medicina Vascular y Metabolismo. Unitat de Recerca Lipids i Arteriosclerosi. Hospital Universitari Sant Joan, IISPV: CIBERDEM., Reus, España., Fuentes Jiménez F; Unidad de Lípidos y Arteriosclerosis. Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC)/Hospital Universitario Reina Sofia/Universidad de Córdoba, Córdoba, España., Martínez-Hervás S; Servicio de Endocrinología y Nutrición. Hospital Clínico Universitario de Valencia- INCLIVA. Departamento de Medicina. Univerdad de Valencia. Valencia, Spain. CIBER de Diabetes y Enfermedades Metabólicas asociadas (CIBERDEM). Madrid, Spain., Blanco-Echevarría A; Hospital Universitario 12 de Octubre. Servicio de Medicina Interna. Unidad de Lípidos y Arteriosclerosis, Madrid, España., Cortés Rodríguez B; Unidad de Lípidos y Arteriosclerosis. Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC)/Hospital Universitario Reina Sofia/Universidad de Córdoba, Córdoba, España., Rodríguez-Carnero G; Hospital Universitario Santiago. Santiago, España., Martín Ordiales MM; Unidad de riesgo vascular. Servicio de Medicina Interna. Complejo Asistencial Universitario de Salamanca, Salamanca, España., Pérez A; Servicio de Endocrinología y Nutrición, Hospital de la Santa Creu i Sant Pau, CIBERDEM. Universitat Autònoma de Barcelona. Barcelona, España., González-Bustos P; Hospital Virgen de las Nieves. Servicio de Medicina Interna. Unidad de Hipertensión y Riesgo Vascular, Granada, España., Argüeso Armesto R; Unidad de Lípidos. Endocrinología y Nutrición. Hospital universitario Lucus Augusti, Lugo, España., Sánchez-Sobrino P; Servicio de Endocrinología y Nutrición, Hospital Montecelo, Complexo Hospitalario Universitario de Pontevedra, Pontevedra, España., Masana L; Universitat Rovira i Virgili. Unidad de Medicina Vascular y Metabolismo. Unitat de Recerca Lipids i Arteriosclerosi. Hospital Universitari Sant Joan, IISPV: CIBERDEM., Reus, España., Civeira F; Hospital Universitario Miguel Servet, IIS Aragón, CIBERCV, Universidad de Zaragoza, Zaragoza, España.
Jazyk:	angličtina
Zdroj:	The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Nov 08. Date of Electronic Publication: 2024 Nov 08.
DOI:	10.1210/clinem/dgae784
Abstrakt:	Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by the presence of two pathogenic variants in the LDLR, APOB, PCSK9 or LDLRAP1 genes, which cause very high levels of LDL cholesterol and premature atherosclerotic cardiovascular disease (ASCVD).The objective of this study is to analyze the current situation regarding diagnosis, cardiovascular disease, lipid-lowering treatment and degree of control of lipids in patients with HoFH in the National Dyslipidemia Registry of the Spanish Atherosclerosis Society. Methods: Subjects with HoFH, confirmed by the presence of two pathogenic variants in the genes mentioned above, included in the registry from 2013 to June 2023 with an updated review were analyzed. Results: 71 HoFH subjects were included. 40.8% were women, aged 52 [24-62] years, 57 adults and 13 children. The median follow-up was 7 [4-13] years. Age of diagnosis was 14 [2-26] years, with 10% of ASCVD at diagnosis and 27% of current ASCVD at 40.6 (13.4) years of age. 38% were on PCSK9i, 9 patients on lomitapide, 9 on LDL apheresis and 1 patient on evinacumab. Subjects with more than 4 therapies achieved >80% reduction in LDLc. In the last visit, the median LDLc was 139.3 [89.4-204.2] mg/dL. ASCVD was strongly associated with male sex and family history of ASCVD, relative risk 5.26 (1.53-18.10) and 2.53 (1.03-6.26), p<0.05, respectively. Only 18% and 10% meet the recommended LDLc goal in primary and secondary prevention respectively. Conclusions: The current situation of HoFH in Spain is better than expected, with marked reductions in LDLc levels with new treatments. In this population, recommended LDLc goals are difficult to achieve despite maximum lipid-lowering therapy. ASCVD has been reduced and delayed by two decades. (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com. See the journal About page for additional terms.)
Databáze:	MEDLINE
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