TY - JOUR
T1 - Sitosterolemia: Diagnosis, investigation, and management
AU - Escolà-Gil, Joan Carles
AU - Quesada, Helena
AU - Julve, Josep
AU - Martín-Campos, Jesús M.
AU - Cedó, Lídia
AU - Blanco-Vaca, Francisco
PY - 2014/1/1
Y1 - 2014/1/1
N2 - 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 note-worthy 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. © Springer Science+Business Media 2014.
AB - 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 note-worthy 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. © Springer Science+Business Media 2014.
KW - Atherosclerosis
KW - Macrothrombocytopenia
KW - Plant sterols
KW - Sitosterolemia
KW - Xanthoma
U2 - 10.1007/s11883-014-0424-2
DO - 10.1007/s11883-014-0424-2
M3 - Review article
VL - 16
JO - Current Atherosclerosis Reports
JF - Current Atherosclerosis Reports
SN - 1523-3804
IS - 7
M1 - 424
ER -