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 <i>ABCG5<i> (2p21) and <i>ABCG8</i> (2p21) genes.

Splenomegaly

Abnormal increased size of the spleen.

Total: 1

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PMID (PMCID)
21576934	MALE	Adult
	A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis.
	Wang G, Wang Z, Liang J, Cao L, Bai X, Ruan C. Acta Haematol. 2011;126(2):95-8.
	We describe a phytosterolemia patient whose clinical manifestations were macrothrombocytopenia, stomatocytic hemolysis and splenomegaly, without the common features of this disorder.