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Improved lipid-lowering treatment and reduction in cardiovascular disease burden in homozygous familial hypercholesterolemia: The SAFEHEART follow-up study.
Alonso, Rodrigo; Arroyo-Olivares, Raquel; Díaz-Díaz, Jose Luis; Fuentes-Jiménez, Francisco; Arrieta, Francisco; de Andrés, Raimundo; Gonzalez-Bustos, Pablo; Argueso, Rosa; Martin-Ordiales, Mercedes; Martinez-Faedo, Ceferino; Illán, Fátima; Saenz, Pedro; Donate, José María; Sanchez Muñoz-Torrero, Juan F; Martinez-Hervas, Sergio; Mata, Pedro.
Afiliación
  • 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.
Atherosclerosis ; 393: 117516, 2024 06.
Article en En | MEDLINE | ID: mdl-38523000
ABSTRACT

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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Homocigoto / Hiperlipoproteinemia Tipo II / LDL-Colesterol / Anticolesterolemiantes Límite: Adult / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Atherosclerosis Año: 2024 Tipo del documento: Article Pais de publicación: Irlanda
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Homocigoto / Hiperlipoproteinemia Tipo II / LDL-Colesterol / Anticolesterolemiantes Límite: Adult / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Atherosclerosis Año: 2024 Tipo del documento: Article Pais de publicación: Irlanda