[Diagnosis and treatment of familial hypercholesterolemia in Spain: consensus document].

[Article in Spanish]

Mata P1, Alonso R2, Ruiz A3, Gonzalez-Juanatey JR4, Badimón L5, Díaz-Díaz JL6, Muñoz MT7, Muñiz O8, Galve E9, Irigoyen L10, Fuentes-Jiménez F11, Dalmau J12, Pérez-Jiménez F11; otros colaboradores.

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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 < 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.

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

PMID:: 24704195
DOI:: 10.1016/j.aprim.2013.12.015

[Indexed for MEDLINE]

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