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Synonym(s) Phytosterolemia
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset All ages
  • E78.0
  • C0342907
  • C537345
  • 10063985


Disease definition

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.

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Detailed information

Clinical practice guidelines
Clinical genetics review
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