Upshaw-Schulman syndrome

Abstract

Thrombotic thrombocytopenic purpura (TTP) is characterized by microangiopathic haemolytic anaemia and thrombocytopenia, often accompanied by fever, renal failure and neurological deficits. The pathophysiology of TTP has been mysterious until recently. Unusually large von Willebrand factor (ULVWF) multimers are now being incriminated in causation of TTP by promoting uncontrolled platelet agglutination, thrombosis, and ischemia. Congenital TTP is associated with a deficiency in a plasma metalloprotease that cleaves a specific peptide bond in the von Willebrand factor (VWF) subunit, thereby decreasing the size of VWF multimers, while acquired TTP seen more often in adolescents and adults is associated with auto-antibodies neutralizing the metalloprotease [1, 2]. Here, we report a child with congenital TTP or Upshaw-Schulman syndrome.