Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry

Abstract excerpt

Hereditary thrombotic thrombocytopenic purpura, Upshaw-Schulman syndrome, ADAMTS13 Hereditary thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman syndrome, is a rare recessively inherited disease. Underlying is a severe constitutional deficiency of the von Willebrand factor-cleaving protease, ADAMTS13, due to compound heterozygous or homozygous mutations in the ADAMTS13 gene. The clinical...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Complement system in diseases
• Share to Platelet Disorders and Treatments
• Share to Renal Diseases and Glomerulopathies