Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry

Mansouri Taleghani, Magnus; von Krogh, A.-S.; Fujimura, Y.; George, J. N.; Hrachovinová, I.; Knöbl, P. N.; Quist-Paulsen, P.; Schneppenheim, R.; Lämmle, Bernhard; Kremer Hovinga, Johanna Anna (2013). Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry. Hämostaseologie, 33(2), pp. 138-43. Schattauer 10.5482/HAMO-13-04-0026

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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 picture is variable and more and more patients with an adult-onset are diagnosed. In the majority of countries the only available treatment is plasma, which when administered regularly can efficiently prevent acute disease bouts. The decision to initiate regular prophylaxis is often not easy, as evidence based guidelines and long term outcome data are lacking. Through the hereditary TTP registry (, identifier: NCT01257269), which was initiated in 2006 and is open to all patients diagnosed with Upshaw-Schulman syndrome and their family members, we aim to gain further information and insights into this rare disease, which eventually will help to improve clinical management of affected patients.

Item Type:

Journal Article (Original Article)


04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory

UniBE Contributor:

Mansouri Taleghani, Magnus; Lämmle, Bernhard and Kremer Hovinga, Johanna Anna


600 Technology > 610 Medicine & health








Verena Zwahlen

Date Deposited:

16 Jun 2014 09:53

Last Modified:

23 Oct 2019 20:41

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Uncontrolled Keywords:

Hereditary thrombotic thrombocytopenic purpura, Upshaw-Schulman syndrome, ADAMTS13




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