/congenital thrombotic thrombocytopenic purpura

congenital thrombotic thrombocytopenic purpura

Rare Disease

MONDO:0010122

Also Known As

Upshaw-Schulman syndromecongenital ADAMTS-13 deficiencycongenital ADAMTS13 deficiencycongenital TTPcongenital thrombotic thrombocytopenic purpurafamilial TTPhereditary thrombotic thrombocytopenic purpurathrombotic thrombocytopenic purpura, hereditaryMicroangiopathic hemolytic AnaemiaMicroangiopathic hemolytic AnemiaMicroangiopathic hemolytic Anemia, congenitalSchulman-Upshaw syndromeTTPTTP, congenitalUSSUpshaw Factor, deficiency ofthrombotic microangiopathy, familialthrombotic thrombocytopenic purpura, congenitalthrombotic thrombocytopenic purpura, familial

Definition

Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.