Congenital thrombotic thrombocytopenic purpura

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.

Also known as congenital ADAMTS-13 deficiency, congenital ADAMTS13 deficiency, congenital thrombotic thrombocytopenic purpura, congenital TTP, familial TTP, hereditary thrombotic thrombocytopenic purpura, thrombotic thrombocytopenic purpura, hereditary, Upshaw-Schulman syndrome — per MONDO

Also identified as

• ICD9 287.33 per MONDO
• NCIT C131657 per MONDO
• OMIM 274150 per MONDO
• Orphanet 93583 per MONDO
• SCTID 373420004 per MONDO
• UMLS C1268935 per MONDO

Affected Organs