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.

Macrothrombocytopenia

Total: 6

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PMID (PMCID)
28696550	FEMALE	Middle Aged
	Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
	Bastida JM, Benito R, Janusz K, Diez-Campelo M, Hernandez-Sanchez JM, Marcellini S, Giros M, Rivera J, Lozano ML, Hortal A, Hernandez-Rivas JM, Gonzalez-Porras JR. J Thromb Haemost. 2017;15(9):1859-1866.
	Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
27401767	FEMALE	Infant
	Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia.
	Yamamoto T, Matsuda J, Dateki S, Ouchi K, Fujimoto W. J Dermatol. 2016;43(11):1340-1344.
	Sitosterolemia is clinically characterized by xanthomas and atherosclerosis, arthritis, fever, hemolysis and macrothrombocytopenia even in early childhood.
25110228	FEMALE	Middle Aged
	Sitosterolemia: a new mutation in a Mediterranean patient.
	Melenotte C, Carrie A, Serratrice J, Weiller PJ. J Clin Lipidol. 2014;8(4):451-4.
	We report here a new mutation of sitosterolemia in a 59-year-old woman with xanthelasma, precocious atherosclerosis, haemolytic anemia and macrothrombocytopenia.
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 report a phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis and discuss its clinical significance.
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.
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.