title: [Diagnosis and treatment of familial hypercholesterolemia in Spain: Consensus document].
abstract: Familial hypercholesterolemia (FH) is a common genetic disorder, clinically manifested since birth, and associated with very high levels of plasma LDL-cholesterol (LDL-c), xanthomas, and premature coronary heart disease. Its early detection and treatment reduces coronary morbidity and mortality. Despite effective treatment being available, FH is under-diagnosed and under-treated. Identification of index cases and cascade screening using LDL-c levels and genetic testing are the most cost-effective strategies for detecting new cases and starting early treatment. Long-term treatment with statins has decreased the vascular risk to the levels of the general population. LDL-c targets are <130mg/dL for children and young adults, <100mg/dL for adults, and <70mg/dL for adults with known coronary heart disease or diabetes. Most patients do not to reach these goals, and combined treatments with ezetimibe or other drugs may be necessary. When the goals are not achieved with the maximum tolerated drug treatment, a reduction ≥50% in LDL-c levels can be acceptable. Lipoprotein apheresis can be useful in homozygous, and in treatment-resistant severe heterozygous, cases. This Consensus Paper gives recommendations on the diagnosis, screening, and treatment of FH in children and adults, and specific advice to specialists and general practitioners with the objective of improving the clinical management of these patients, in order to reduce the high burden of coronary heart disease.
authors.affiliation: Medicina Interna, Presidente de la Fundación Hipercolesterolemia Familiar, Madrid, España. Electronic address: pmata@colesterolfamiliar.org.
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata
authors.affiliation: Clínica de Lípidos, Medicina Interna, Fundación Jiménez Díaz, Madrid, España.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Alonso
authors.affiliation: Atención Primaria, Unidad de Lípidos y Prevención Cardiovascular, Centro de Salud Pinto, Pinto, Madrid, España.
authors.forename: Antonio
authors.initials: A
authors.lastname: Ruiz
authors.affiliation: Servicio de Cardiología, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, La Coruña, España.
authors.forename: Jose R
authors.initials: JR
authors.lastname: Gonzalez-Juanatey
authors.affiliation: Instituto Catalán de Ciencias Cardiovasculares (ICCC), IIB-Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, España.
authors.forename: Lina
authors.initials: L
authors.lastname: Badimón
authors.affiliation: Servicio de Medicina Interna, Hospital Universitario A Coruña, A Coruña, España.
authors.forename: Jose L
authors.initials: JL
authors.lastname: Díaz-Díaz
authors.affiliation: Servicio de Endocrinología, Hospital Infantil Universitario Niño Jesús, Departamento de Pediatría, Universidad Autónoma, Madrid, España.
authors.forename: María Teresa
authors.initials: MT
authors.lastname: Muñoz
authors.affiliation: UCERV, UCAMI, Servicio de Medicina Interna, Hospital Virgen del Rocío, Sevilla, España.
authors.forename: Ovidio
authors.initials: O
authors.lastname: Muñiz
authors.affiliation: Unitat d'Insuficiència Cardiaca, Servei de Cardiologia, Àrea del Cor, Hospital Vall d'Hebron, Barcelona, España.
authors.forename: Enrique
authors.initials: E
authors.lastname: Galve
authors.affiliation: Departamento de Endocrinología, Hospital Universitario Araba, Vitoria-Gasteiz, España.
authors.forename: Luis
authors.initials: L
authors.lastname: Irigoyen
authors.affiliation: IMIBIC/Hospital Universitario Reina Sofía, Universidad de Córdoba, Córdoba, España.
authors.forename: Francisco
authors.initials: F
authors.lastname: Fuentes-Jiménez
authors.affiliation: Pediatría, Hospital Infantil La Fe, Valencia, España.
authors.forename: Jaime
authors.initials: J
authors.lastname: Dalmau
authors.affiliation: IMIBIC/Hospital Universitario Reina Sofía, Universidad de Córdoba, Córdoba, España.
authors.forename: Francisco
authors.initials: F
authors.lastname: Pérez-Jiménez
mesh_terms: D000328:Adult; D000367:Age Factors; D002648:Child; D008078:Cholesterol, LDL / Q000097:blood*; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000628:therapy*; D008403:Mass Screening / Q000379:methods*; D013030:Spain; D055815:Young Adult
chemical_list: D008078:Cholesterol, LDL; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors
keywords: Cardiovascular disease; Cascade screening; Children-adolescents; Cribado en cascada; Diagnóstico genético; Enfermedad cardiovascular; Familial hypercholesterolemia; Genetic testing; Hipercolesterolemia familiar; Hipercolesterolemia familiar homocigota; Homozygous familial hypercholesterolemia; Niños-adolescentes; Tratamiento; Treatment