Key result
Ezetimibe or bile acid sequestrants produced the largest reductions in plasma sitosterol and LDL-cholesterol in subjects with sitosterolemia caused by ABCG5 or ABCG8 nonsense mutations.
Population
5 Canadian subjects with sitosterolemia caused by nonsense mutations in ABCG5 or ABCG8 half-transporters.
Design
Case_series
Authors
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Ezetimibe or bile acid sequestrants may warrant first consideration in sitosterolemia; leaves open confirmation in prospective trials.
Case Report (n=5)
Nonsense mutations in ABCG5 or ABCG8 cause sitosterolemia with a wide spectrum of vascular involvement, and plasma sterols are most effectively reduced by ezetimibe or bile acid sequestrants.
Wang et al. (2004) conducted a case report in Sitosterolemia (n=5). Ezetimibe, bile acid sequestrants, or statins was evaluated on Plasma concentrations of sitosterol and LDL-cholesterol. Ezetimibe or bile acid sequestrants produced the largest reductions in plasma sitosterol and LDL-cholesterol in subjects with sitosterolemia caused by ABCG5 or ABCG8 nonsense mutations.
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