Improved lipid-lowering treatment and reduction in cardiovascular disease burden in homozygous familial hypercholesterolemia: The SAFEHEART follow-up study.

Autor: Alonso R; Fundación Hipercolesterolemia Familiar, Madrid, Spain; Center for Advanced Metabolic Medicine and Nutrition, Santiago, Chile. Electronic address: rodrigoalonsok@gmail.com., Arroyo-Olivares R; Fundación Hipercolesterolemia Familiar, Madrid, Spain., Díaz-Díaz JL; Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain., Fuentes-Jiménez F; Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, Reina Sofia University Hospital, CIBERObn, Córdoba, Spain., Arrieta F; Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain., de Andrés R; Department of Internal Medicine, Fundación Jimenez Díaz, Madrid, Spain., Gonzalez-Bustos P; Department of Internal Medicine, Hospital Universitario Virgen de Las Nieves, Granada, Spain., Argueso R; Department of Endocrinology, Hospital Universitario de Lugo, Lugo, Spain., Martin-Ordiales M; Department of Internal Medicine, Complejo Asistencial de Salamanca, Salamanca, Spain., Martinez-Faedo C; Department of Endocrinology, Hospital Central de Asturias, Oviedo, Spain., Illán F; Department of Endocrinology, Hospital Morales Meseguer, Murcia, Spain., Saenz P; Department of Internal Medicine, Hospital de Mérida, Mérida, Spain., Donate JM; Department of Pediatric Endocrinology, Hospital General Universitario Santa Lucía, Murcia, Spain., Sanchez Muñoz-Torrero JF; Department of Internal Medicine, Hospital San Pedro de Alcántara, Caceres, Spain., Martinez-Hervas S; Department of Endocrinology, Hospital Clínico Universitario de Valencia INCLIVA, CIBER de Diabetes, Spain., Mata P; Fundación Hipercolesterolemia Familiar, Madrid, Spain. Electronic address: pmata@colesterolfamiliar.org.
Jazyk: angličtina
Zdroj: Atherosclerosis [Atherosclerosis] 2024 Jun; Vol. 393, pp. 117516. Date of Electronic Publication: 2024 Mar 16.
DOI: 10.1016/j.atherosclerosis.2024.117516
Abstrakt: Aim: We aimed to describe clinical and genetic characteristics, lipid-lowering treatment and atherosclerotic cardiovascular disease (ASCVD) outcomes over a long-term follow-up in homozygous familial hypercholesterolemia (HoFH).
Methods: SAFEHEART (Spanish Familial Hypercholesterolaemia Cohort Study) is a long-term study in molecularly diagnosed FH. Data analyzed in HoFH were prospectively obtained from 2004 until 2022. ASCVD events, lipid profile and lipid-lowering treatment were determined.
Results: Thirty-nine HoFH patients were analyzed. The mean age was 42 ± 20 years and nineteen (49%) were women. Median follow-up was 11 years (IQR 6,18). Median age at genetic diagnosis was 24 years (IQR 8,42). At enrolment, 33% had ASCVD and 18% had aortic valve disease. Patients with new ASCVD events and aortic valve disease at follow-up were six (15%), and one (3%), respectively. Median untreated LDL-C levels were 555 mg/dL (IQ 413,800), and median LDL-C levels at last follow-up was 122 mg/dL (IQR 91,172). Most patients (92%) were on high intensity statins and ezetimibe, 28% with PCSK9i, 26% with lomitapide, and 23% with lipoprotein-apheresis. Fourteen patients (36%) attained an LDL-C level below 100 mg/dL, and 10% attained an LDL-C below 70 mg/dL in secondary prevention. Patients with null/null variants were youngers, had higher untreated LDL-C and had the first ASCVD event earlier. Free-event survival is longer in patients with defective variant compared with those patients with at least one null variant (p=0.02).
Conclusions: HoFH is a severe life threating disease with a high genetic and phenotypic variability. The improvement in lipid-lowering treatment and LDL-C levels have contributed to reduce ASCVD events.
Competing Interests: Declaration of competing interest RA reports personal fees and non-financial support from Tecnofarma Chile, NovoNordisk Chile, and personal fees from Novartis Chile, Amgen Spain, and Teva Chile, outside the submitted work. JLDD received honoraria for research activities from Merck Sharp and Dhome Spain, Amgen Spain, and Sanofi Spain. PM, received research grants from Amgen USA and Sanofi Spain.
(Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: