Zhereditary deficiency of adamts13 activity: Upshaw-schulman syndrome

Abstract

Upshaw-Schulman syndrome (USS) is an autosomal recessive disorder due to congenital deficiency of ADAMTS13. Over 140 mutations throughout the ADAMTS13 gene have been reported in patients with USS. The classic presentation of USS includes Coombs-negative neonatal hemolytic anemia and thrombocytopenia. This chapter summarizes the literature on USS and focuses on the Japanese data in this disorder, including gene mutations and approach to therapy.