A new variant (c.1A > G) in LDLRAP1 causing autosomal recessive hypercholesterolemia: Characterization of the defect and response to PCSK9 inhibition

Autosomal recessive hypercholesterolemia (ARH) is a rare disorder caused by mutations in LDLRAP1, which impairs internalization of hepatic LDL receptor (LDLR). ARH patients respond relatively well to statins or the combination of statins and Ezetimibe, but scarce and variable data on treatment with PCSK9 inhibitors are available. We aimed to identify and characterize the defect in a hypercholesterolemic patient with premature cardiovascular disease and determine the response to lipid-lowering treatment.

Source: Atherosclerosis - January 25, 2019 Category: Cardiology Authors: Carmen Rodr íguez-Jiménez, Diego Gómez-Coronado, Manuel Frías Vargas, Francisca Cerrato, Carlos Lahoz, Jose Saban-Ruiz, Daniel González-Nieto, Miguel A. Lasunción, José M. Mostaza, Sonia Rodríguez-Nóvoa Source Type: research