Clínic Barcelona. Hospital Universitari
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Clinical cases

Familial hypercholesterolemia

Familial hypercholesterolemia is an inherited disease characterized by the accumulation of LDL cholesterol in blood, which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and a very high risk of premature coronary heart disease. This case includes the application of Next Generation Sequencing in genetic diagnosis and the most important biochemical tests for monitoring the disease.

Biomedical Diagnostic Center (CDB)

Villarroel, 170 · 08036 Barcelona
Tel: +34 93 227 54 64 · Fax: +34 93 227 98 75 · · www.hospitalclinic.org