Homozygous autosomal dominant hypercholesterolemia (hoADH) is a rare genetic disorder caused by mutations in LDL receptor, apolipoprotein B, and/or proprotein convertase subtilisin-kexin type 9. Both the genetic mutations and the clinical phenotype vary largely among individual patients, but patients with hoADH are typically characterized by extremely elevated LDL-cholesterol (LDL-C) levels, and a very high-risk for premature cardiovascular disease. Current lipid-lowering therapies include bile acid sequestrants, statins, and ezetimibe. To further decrease LDL-C levels in hoADH, lipoprotein apheresis is recommended, but this therapy is not available in all countries.
|Titolo:||Homozygous autosomal dominant hypercholesterolaemia: prevalence, diagnosis, and current and future treatment perspectives|
|Data di pubblicazione:||2015|
|Citazione:||Homozygous autosomal dominant hypercholesterolaemia: prevalence, diagnosis, and current and future treatment perspectives / Sjouke, Barbara; Hovingh, G. Kees; Kastelein, John J. P; Stefanutti, Claudia. - In: CURRENT OPINION IN LIPIDOLOGY. - ISSN 0957-9672. - ELETTRONICO. - 26:3(2015), pp. 200-9-209.|
|Appare nella tipologia:||01a Articolo in rivista|