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.

Stomatocytosis

The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.

Total: 2

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PMID (PMCID)
24623560	MALE	Child
	A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis.
	Kaya Z, Niu DM, Yorulmaz A, Tekin A, Gursel T. Pediatr Blood Cancer. 2014;61(8):1457-9.
	A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis.
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.
	Our results suggest that blood cells could be a target for the toxic effect of plasma plant sterols, which should be measured in patients with unexplained stomatocytosis and/or macrothrombocytopenia in order to determine if they have phytosterolemia.