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.

Fever

Elevated body temperature due to failed thermoregulation.

Total: 1

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PMID (PMCID)
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.