遗传疾病和遗传报告杂志

Long-Term Follow-Up of a Patient with Sitosterolemia and Hemolytic Anemia with Excellent Response to Ezetimibe

Alfonso Quint?s-Cardama and John J. McCarthy

Long-Term Follow-Up of a Patient with Sitosterolemia and Hemolytic Anemia with Excellent Response to Ezetimibe

Sitosterolemia (MIM #210250), also known as phytosterolemia, first described in 1974, is characterized by disruption of the normal homeostatic mechanisms that regulate dietary cholesterol absorption and prevent the accumulation of non-cholesterol sterols. Phytosterols are almost undetectable in plasma from normal individuals. Sitosterolemia is inherited in an autosomal recessive fashion and results from mutations in two genes at the STSL locus that maps to human chromosome 2p21: the ATP-binding cassette,subfamily G, members 5 and 8 (ABCG5 and ABCG8), that encode two proteins known as sterolin-1 and -2.