Sitosterolemia: Diagnosis, Investigation, and Management
Por:
Escola-Gil, JC, Quesada, H, Julve, J, Martin-Campos, JM, Cedo, L, Blanco-Vaca, F
Publicada:
1 jul 2014
Resumen:
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.
Filiaciones:
Escola-Gil, JC:
IIB, Barcelona 08025, Spain
CIBERDEM, CIBER Diabet & Enfermedades Metab Asociadas, Madrid 28029, Spain
Univ Autonoma Barcelona, Dept Bioquim & Biol Mol, E-08193 Barcelona, Spain
Quesada, H:
IIB, Barcelona 08025, Spain
CIBERDEM, CIBER Diabet & Enfermedades Metab Asociadas, Madrid 28029, Spain
Julve, J:
IIB, Barcelona 08025, Spain
CIBERDEM, CIBER Diabet & Enfermedades Metab Asociadas, Madrid 28029, Spain
Univ Autonoma Barcelona, Dept Bioquim & Biol Mol, E-08193 Barcelona, Spain
Martin-Campos, JM:
IIB, Barcelona 08025, Spain
CIBERDEM, CIBER Diabet & Enfermedades Metab Asociadas, Madrid 28029, Spain
Univ Autonoma Barcelona, Dept Bioquim & Biol Mol, E-08193 Barcelona, Spain
Cedo, L:
IIB, Barcelona 08025, Spain
CIBERDEM, CIBER Diabet & Enfermedades Metab Asociadas, Madrid 28029, Spain
Blanco-Vaca, F:
IIB, Barcelona 08025, Spain
CIBERDEM, CIBER Diabet & Enfermedades Metab Asociadas, Madrid 28029, Spain
Univ Autonoma Barcelona, Dept Bioquim & Biol Mol, E-08193 Barcelona, Spain
Hosp Santa Creu & Sant Pau, Serv Bioquim, Barcelona 08041, Spain
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