A resilient type of familial hypercholesterolaemia: case-control follow-up of genetically characterized older patients in the SAFEHEART cohort
Por:
Pérez de Isla L, Watts GF, Muñiz-Grijalvo O, Díaz-Díaz JL, Alonso R, Zambón D, Fuentes-Jimenez F, Mauri M, Padró T, Vidal-Pardo JI, Barba MA, Ruiz-Pérez E, Michán A, Mediavilla JD, Hernandez AM, Romero-Jimenez MJ, Badimon L, Mata P
Publicada:
5 may 2022
Ahead of Print:
1 dic 2021
Resumen:
Aims Knowledge of the features of patients with familial hypercholesterolaemia (FH) who are protected from atherosclerotic cardiovascular disease (ASCVD) is important for the clinical and prognostic care of this apparently high-risk condition. Our aim was to investigate the determinant and characteristics of patients with FH who are protected from ASCVD and have normal life expectancy, so-called 'resilient' FH (R-FH). Methods and results Spanish Familial Hypercholesterolaemia cohort study (SAFEHEART) is an open, multicentre, nation-wide, long-term prospective cohort study in genetically defined patients with heterozygous FH in Spain. Patients in the registry who at the time of analysis were at least 65 years or those who would have reached that age had they not died from an ASCVD event were analysed as a case-control study. Resilient FH was defined as the presence of a pathogenic mutation causative of FH in a patient aged >= 65 years without clinical ASCVD. Nine hundred and thirty registrants with FH met the study criteria. A defective low-density lipoprotein (LDL)-receptor mutation, higher plasma level of high-density lipoprotein cholesterol (HDL-C), younger age, female gender, absence of hypertension, and lower plasma lipoprotein (a) [Lp(a)] concentration were independently predictive of R-FH. In a second model, higher levels of HDL-C and lower 10-year score in SAFEHEART-RE were also independently predictive of R-FH. Conclusion Resilient FH may be typified as being female and having a defective LDL-receptor mutation, higher levels of plasma HDL-C, lower levels of Lp(a), and an absence of hypertension. The implications of this type of FH for clinical practice guidelines and the value for service design and optional care of FH remains to be established.
Filiaciones:
Pérez de Isla L:
Cardiology Department, Hospital Clínico San Carlos, IDISSC, Facultad de Medicina, Universidad Complutense, C/Profesor Martín Lagos s/n, 28040 Madrid, Spain
Fundación Hipercolesterolemia Familiar, C/General Alvarez de Castro 14, 28010 Madrid, Spain
Watts GF:
School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia
Department of Cardiology, Royal Perth Hospital, Lipid Disorders Clinic, Cardiometabolic Services, Perth, Western Australia, Australia
Muñiz-Grijalvo O:
Internal Medicine Department, Hospital Virgen del Rocío, Sevilla, Spain
Díaz-Díaz JL:
Internal Medicine Department, Hospital Abente y Lago, A Coruña, Spain
Alonso R:
Fundación Hipercolesterolemia Familiar, C/General Alvarez de Castro 14, 28010 Madrid, Spain
Center for Advanced Metabolic Medicine and Nutrition, Santiago, Chile
Zambón D:
Department of Endocrinology, Hospital Clinic, Barcelona, Spain
Fuentes-Jimenez F:
Lipid and Atherosclerosis Unit, CIBERObn, IMBIC, Hospital Universitario Reina Sofia, Córdoba, Spain
Mauri M:
Internal Medicine Department, Hospital de Terrassa, Barcelona, Spain
Padró T:
ICCC Cardiovascular, Institut de Recerca del Hospital Santa Creu i Sant Pau, IIB Santa Pau, Barcelona, Spain
Vidal-Pardo JI:
Department of Endocrinology, Hospital Universitario Lucus Augusti, Lugo, Spain
Barba MA:
Internal Medicine Department, Complejo Hospitalario Universitario, Albacete, Spain
Ruiz-Pérez E:
Department of Endocrinology, Hospital Universitario de Burgos, Burgos, Spain
Michán A:
Internal Medicine Department, Hospital Jerez de la Frontera, Cadiz, Spain
Mediavilla JD:
Internal Medicine Department, Hospital Universitario Virgen de las Nieves, Granada, Spain
Hernandez AM:
Department of Endocrinology, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
Romero-Jimenez MJ:
Internal Medicine Department, Hospital Infanta Elena, Huelva, Spain
Badimon L:
ICCC Cardiovascular, Institut de Recerca del Hospital Santa Creu i Sant Pau, IIB Santa Pau, Barcelona, Spain
Mata P:
Fundación Hipercolesterolemia Familiar, C/General Alvarez de Castro 14, 28010 Madrid, Spain
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