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Current Atherosclerosis Reports
Published in: Current Atherosclerosis Reports 7/2014

01-07-2014 | Rare Diseases and Lipid Metabolism (JAG López, Section Editor)

Sitosterolemia: Diagnosis, Investigation, and Management

Authors: Joan Carles Escolà-Gil, Helena Quesada, Josep Julve, Jesús M. Martín-Campos, Lídia Cedó, Francisco Blanco-Vaca

Published in: Current Atherosclerosis Reports | Issue 7/2014

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Abstract

Sitosterolemia is a rare autosomal recessively inherited disease caused by mutations affecting ABCG5 or ABCG8, which are located on human chromosome band 2p21. Around 100 cases have been reported in the literature. Sitosterolemic patients typically exhibit a 30-fold to 100-fold increase in plasma concentrations of plant sterols. The clinical manifestations include xanthomas, premature atherosclerosis, hemolytic anemia, and macrothrombocytopenia. It is noteworthy that abnormal hematological parameters may be the only clinical feature of sitosterolemic patients, suggesting that sitosterolemia may be more frequent than previously thought. Severe accumulation of plant sterols in mouse models of sitosterolemia induced complex cardiac lesions, anemia, and macrothrombocytopenia, disrupted adrenal and liver cholesterol homeostasis, and caused infertility and hypertriglyceridemia. It remains unclear whether all disease traits are present in sitosterolemic patients. The drug ezetimibe appears to be effective in reducing plasma plant sterol levels, promotes xanthoma regression, and improves the cardiovascular and hematological signs in sitosterolemic patients.
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Metadata
Title
Sitosterolemia: Diagnosis, Investigation, and Management
Authors
Joan Carles Escolà-Gil
Helena Quesada
Josep Julve
Jesús M. Martín-Campos
Lídia Cedó
Francisco Blanco-Vaca
Publication date
01-07-2014
Publisher
Springer US
Published in
Current Atherosclerosis Reports / Issue 7/2014
Print ISSN: 1523-3804
Electronic ISSN: 1534-6242
DOI
https://doi.org/10.1007/s11883-014-0424-2

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