AB066. Pseudohomozygous familial hypercholesterolemia has better outcome than homozygous familial hypercholesterolemia

摘要

BackgroundHomozygous familial hypercholesterolemia (HoFH), due to the LDLR gene defect, is very rare. Drugs are largely not effective enough for HoFH patients except LDL apheresis or liver transplantation combined with cholesterol-lowering drugs. However, pseudohomozygous familial hypercholesterolemia, also known as sitosterolemia, is a recessively inherited disorder that results from mutations in either ABCG5 or G8 proteins, with hyperabsorption of dietary sterols and decreased hepatic excretion of plant sterols and cholesterol. Ezetimibe appears to reduce plasma plant sterol concentrations in patients with sitosterolemia in previous studies. In this study, we compare the clinical manifestations and treatment outcome of these two diseases.