Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FH Marburg (FH p.W556R)

Conclusions The LDLR mutation p.W556R is a frequent and severe class II defect for FH. The affected homozygote FH patients have a total loss of the functional LDLR and—as expected—do not respond on statin therapy and require LDL apheresis. In contrast, heterozygote FH patients with the same LDLR defect respond exceedingly well to standard lipid-lowering therapy, illustrating that the knowledge of the primary LDLR defect enables us to foresee the expected drug effects.
Source: Clinical Research in Cardiology Supplements - Category: Cardiology Source Type: research