Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/47116
Título: Homozygous familial hypercholesterolemia in Spain prevalence and phenotype-genotype relationship
Autores/as: Civeira Murillo, Fernando
Stef, Marianne A.
Pérez Calahorra, Sofía
Almagro Múgica, Fátima
Plana Gil, Nuria
Sáenz Aranzubía, Pedro Enrique
Mosquera Lozano, Daniel
Soler i Ferrer, Cristina
Fuentes Jiménez, Francisco José
Brito Casillas, Yeray 
Real Collado, José Tomás
Blanco Vaca, Francisco 
Ascaso Gimilio, Juan Francisco
Pocovi Mieras, Miguel
Sánchez Hernández, Rosa María 
Novoa Mogollón, Francisco 
Clasificación UNESCO: 32 Ciencias médicas
3207 Patología
320704 Patología cardiovascular
Palabras clave: Alleles
Hypercholesterolemia
Lipids
Mutation
Registries
Fecha de publicación: 2016
Editor/a: 1942-325X
Publicación seriada: Circulation. Cardiovascular genetics 
Resumen: Background-Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and extremely high risk of premature atherosclerotic cardiovascular disease. HoFH is caused by mutations in several genes, including LDL receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and LDL protein receptor adaptor 1 (LDLRAP1). No epidemiological studies have assessed HoFH prevalence or the clinical and molecular characteristics of this condition. Here, we aimed to characterize HoFH in Spain. Methods and Results-Data were collected from the Spanish Dyslipidemia Registry of the Spanish Atherosclerosis Society and from all molecular diagnoses performed for familial hypercholesterolemia in Spain between 1996 and 2015 (n=16 751). Clinical data included baseline lipid levels and atherosclerotic cardiovascular disease events. A total of 97 subjects were identified as having HoFH-of whom, 47 were true homozygous (1 for APOB, 5 for LDLRAP1, and 41 for LDLR), 45 compound heterozygous for LDLR, 3 double heterozygous for LDLR and PSCK9, and 2 double heterozygous for LDLR and APOB. No PSCK9 homozygous cases were identified. Two variants in LDLR were identified in 4.8% of the molecular studies. Over 50% of patients did not meet the classical HoFH diagnosis criteria. The estimated HoFH prevalence was 1: 450 000. Compared with compound heterozygous cases, true homozygous cases showed more aggressive phenotypes with higher LDL-C and more atherosclerotic cardiovascular disease events. Conclusions-HoFH frequency in Spain was higher than expected. Clinical criteria would underestimate the actual prevalence of individuals with genetic HoFH, highlighting the importance of genetic analysis to improve familial hypercholesterolemia diagnosis accuracy.
URI: http://hdl.handle.net/10553/40325
ISSN: 1942-325X
DOI: 10.1161/CIRCGENETICS.116.001545
Fuente: Circulation. Cardiovascular Genetics [ISSN 1942-325X], v. 9 (6), p. 504-510
Colección:Artículos
miniatura
Adobe PDF (414,79 kB)
Vista completa

Citas SCOPUSTM   

52
actualizado el 24-mar-2024

Citas de WEB OF SCIENCETM
Citations

46
actualizado el 25-feb-2024

Visitas

56
actualizado el 10-feb-2024

Descargas

45
actualizado el 10-feb-2024

Google ScholarTM

Verifica

Altmetric


Comparte



Exporta metadatos



Los elementos en ULPGC accedaCRIS están protegidos por derechos de autor con todos los derechos reservados, a menos que se indique lo contrario.