212 top medical experts on Sitosterolemia across 27 countries and 17 U.S. states, including 51 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. 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 ABCG5 (2p21) and ABCG8 (2p21) genes.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Support Organizations

Organizations Providing General Support

  • Synonyms: Mediterranean Macrothrombocytopenia-Stomatocytosis,  Phytosterolemia,  Plant sterol storage disease,  Pseudohomozygous familial hypercholesterolemia


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