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
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Mata, P., Alonso, R., Ruiz, A., Gonzalez-Juanatey, J. R., Badimón, L., Díaz-Díaz, J. L., … Pérez-Jiménez, F. (2015). Diagnosis and treatment of familial hypercholesterolemia in Spain: Consensus document. Semergen, 41(1), 24–33. https://doi.org/10.1016/j.semerg.2014.05.001
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