Sitosterolemia

Sitosterolemia is 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.

Aliases

macrothrombocytopenia/stomatocytosis, Mediterranean
Phytosterolemia
phytosterolemia
plant sterol storage disease
retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body
sitosterolemia
sitosterolemia
STSL
Xanthomatosis with sisterolemia