Unexpected Consequences of Sitosterolemia on Platelet Formation

• Published in: Blood 2006-11, Vol.108 (11), p.1090-1090
• Main Authors: Drayer, Lyndsay, Kruit, Janine, Dontje, Bert, de Haan, Gerald, Kema, Ido, Vellenga, Edo, Kuipers, Folkert
• Format: Article
• Language: English
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.V108.11.1090.1090

Sitosterolemia is a rare autosomal recessive disorder characterized by the accumulation of plant and animal sterols in blood and tissues. The disease is caused by a mutation in either of the ATP-binding cassette half transporters Abcg5 or Abcg8, which function as obligate heterodimers that are highly expressed in the liver and intestine where they transport plant sterols into bile or into the intestinal lumen, respectively. Patients with sitosterolemia develop xanthomas, arthritis, hemolysis, thrombocytopenia, short stature and premature cardiovascular disease. Recently, patients with Mediterranean stomatocytosis or Mediterranean macro thrombocytopenia were characterized as sitosterolemia patients. In this study we addresed the underlying mechanisms for thrombocytopenia in sitosterolemia using the Abcg5 deficient mouse as a model. Abcg5−/− mice demonstrated macro thrombocytopenia with reduced platelets counts (262±58×109/L) compared to wt controls (805±65×109/L, p