Sitosterolemia

A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

Also known as: phytosterolemia, sitosterolemia, STSL, macrothrombocytopenia/stomatocytosis, Mediterranean, plant sterol storage disease, retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body

0 clinical trials for this condition and its sub-types, 0 tagged with Sitosterolemia itself.