Name: Thrombotic thrombocytopenic purpura, hereditary | Acronym: TTP
Alt. names: Schulman-Upshaw syndrome

Gene: ADAMTS13 | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 0 | First reported in: 2001

Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza

OMIM: 274150

Orphanet: -

MONDO: -

DOID: -

ClinGen:

It manifests acutely as microangiopathic mechanical hemolytic anemia, severe thrombocytopenia, and visceral ischemia. The platelet adherence and occlusive microvascular thrombosis can affect several organs, such as the brain, heart and kidneys; if left untreated, mortality can exceed 90%. Hereditary TTP is more frequent amongst pediatric-onset (vs adult-onset) TTP, and clinical presentation can vary significantly with age of onset. Child-onset TTP usually starts in the neonatal period with hematological features and severe jaundice, while adult-onset hereditary TTP in women is often unmasked during their first pregnancy.

Administration of plasma can be beneficial. Specific treatment in pregnancy may be beneficial.