[Diagnosis and treatment of familial hypercholesterolemia in Spain: consensus document].
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 < 130 mg/dL for children and young adults, <100mg/dL for adults, and < 70 mg/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.
Medicina Interna, Presidente de la Fundación Hipercolesterolemia Familiar, Madrid, España. Electronic address: pmata@colesterolfamiliar.org.
Pedro
P
Mata
Clínica de Lípidos, Medicina Interna, Fundación Jiménez Díaz, Madrid, España.
Rodrigo
R
Alonso
Atención Primaria, Unidad de Lípidos y Prevención Cardiovascular, Centro de Salud Pinto, Pinto, Madrid, España.
Antonio
A
Ruiz
Servicio de Cardiología, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, La Coruña, España.
Jose R
JR
Gonzalez-Juanatey
Instituto Catalán de Ciencias Cardiovasculares (ICCC), IIB-Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, España.
Lina
L
Badimón
Servicio de Medicina Interna, Hospital Universitario A Coruña, A Coruña, España.
Jose L
JL
Díaz-Díaz
Servicio de Endocrinología, Hospital Infantil Universitario Niño Jesús, Departamento de Pediatría, Universidad Autónoma, Madrid, España.
María Teresa
MT
Muñoz
UCERV, UCAMI, Servicio de Medicina Interna, Hospital Virgen del Rocío, Sevilla, España.
Ovidio
O
Muñiz
Unitat d'Insuficiència Cardiaca, Servei de Cardiologia, Àrea del Cor, Hospital Vall d'Hebron, Barcelona, España.
Enrique
E
Galve
Departamento de Endocrinología, Hospital Universitario Araba, Vitoria-Gasteiz, España.
Luis
L
Irigoyen
IMIBIC/Hospital Universitario Reina Sofía, Universidad de Córdoba, Córdoba, España.
Francisco
F
Fuentes-Jiménez
Pediatría, Hospital Infantil La Fe, Valencia, España.
Jaime
J
Dalmau
IMIBIC/Hospital Universitario Reina Sofía, Universidad de Córdoba, Córdoba, España.
Francisco
F
Pérez-Jiménez
D000465:Algorithms; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000628:therapy*; D017410:Practice Guidelines as Topic; D013030:Spain
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