Hamostaseologie 2013; 33(02): 138-143
DOI: 10.5482/HAMO-13-04-0026
Original article
Schattauer GmbH

Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry

Hereditäre thrombotisch-thrombozytopenische Purpura und hereditäres TTP-Register
M. Mansouri Taleghani
1  University Clinic of Haematology & Central Haematology Laboratory, Bern University Hospital and the University of Bern, Inselspital, Bern, Switzerland
,
A.-S. von Krogh
2  Department of Haematology, St Olavs Hospital, Trondheim University, Norway
,
Y. Fujimura
3  Department of Blood Transfusion Medicine, Nara Medical University, Japan
,
J. N. George
4  Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, United States
,
I. Hrachovinova
5  Coagulation Laboratory, Institute of Haematology and Blood Transfusion, Prague, Czech Republic
,
P. N. Knöbl
6  Div. Haematology & Haemostasis, Department of Medicine 1, Medical University of Vienna, Austria
,
P. Quist-Paulsen
2  Department of Haematology, St Olavs Hospital, Trondheim University, Norway
,
R. Schneppenheim
7  Department of Paediatric Haematology & Oncology, University Medical Center, Hamburg-Eppendorf, Germany
,
B. Lämmle
1  University Clinic of Haematology & Central Haematology Laboratory, Bern University Hospital and the University of Bern, Inselspital, Bern, Switzerland
,
J. A. Kremer Hovinga
1  University Clinic of Haematology & Central Haematology Laboratory, Bern University Hospital and the University of Bern, Inselspital, Bern, Switzerland
› Author Affiliations
Further Information

Publication History

received: 26 April 2013

accepted: 06 May 2013

Publication Date:
05 February 2018 (online)

Summary

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 (www.ttpregistry.net, ClinicalTrials.gov 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.

Zusammenfassung

Die hereditäre thrombotisch-thrombozytopenische Purpura, auch bekannt als UpshawSchulman-Syndrom (USS), ist eine seltene, rezessiv vererbte Erkrankung. Ihr zugrunde liegt ein schwerer angeborener Mangel der von-Willebrand-Faktor-spaltenden Protease, ADAMTS13, verursacht durch Mutationen im ADAMTS13-Gen. Die klinische Präsentation kann sehr variabel sein und immer öfter werden auch Patienten mit einem Krankheitsbeginn im Erwachsenenalter identifiziert.

Die regelmäßige Gabe von Plasma kann Krankheitsschübe verhindern. Der Entscheid, eine regelmäßige Plasmaprophylaxe zu beginnen, ist oft nicht einfach, weil Leitlinien und Langzeitverläufe weitgehend fehlen. Das 2006 lancierte hereditäre TTP-Register (www.ttpregistry.net, CinicalTRials.gov NCT01257269), das USS-Patienten und ihren Familienangehörigen offen steht, hat zum Ziel, Wissen und Informationen über diese seltene Krankheit zu sammeln, um so in Zukunft zu besserer Diagnostik und Betreuung der betroffen Patienten beizutragen.