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Hamostaseologie 2020; 40(S 01): S5-S14
DOI: 10.1055/a-1282-2264
Review Article

Insights from the Hereditary Thrombotic Thrombocytopenic Purpura Registry: Discussion of Key Findings Based on Individual Cases from Switzerland

Hereditary TTP Registry: Günther Landbeck Excellence Award 2019 (Category: Clinical Work)
Johanna A. Kremer Hovinga
1   Department of Hematology and Central Hematology Laboratory, Bern University Hospital (Inselspital), University of Bern, Bern, Switzerland
2   Department for BioMedical Research, University of Bern, Bern, Switzerland
,
Thomas R. Braschler
3   Department of Hematology, Luzerner Kantonsspital, Lucerne, Switzerland
,
Florian Buchkremer
4   Division of Nephrology, Dialysis and Transplantation, Cantonal Hospital Aarau, Aarau, Switzerland
,
Stefan Farese
5   Department of Nephrology, Burgerspital, Solothurn, Switzerland
,
Heinz Hengartner
6   Pediatric Hematology-Oncology Unit, Children's Hospital of Sankt Gallen, Sankt Gallen, Switzerland
,
Pierre-Yves Lovey
7   Service d'hématologie, Hôpital du Valais-Institut Central, Sion, Switzerland
,
Carlo R. Largiadèr
8   University Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
,
Behrouz Mansouri Taleghani
1   Department of Hematology and Central Hematology Laboratory, Bern University Hospital (Inselspital), University of Bern, Bern, Switzerland
,
Erika Tarasco
1   Department of Hematology and Central Hematology Laboratory, Bern University Hospital (Inselspital), University of Bern, Bern, Switzerland
2   Department for BioMedical Research, University of Bern, Bern, Switzerland
› Author Affiliations Funding The Hereditary TTP Registry has received support from the Swiss National Science Foundation (grant 310030-185233), the Mach-Gaensslen Foundation Switzerland, the ISTH 2007 Presidential Fund, the GTH Congress President Fund, the NFG Foundation, as well as through a research grant from Baxalta US Inc., member of the Takeda group of companies, Bannockburn, Illinois, United States.
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Abstract

The Hereditary TTP Registry is an international cohort study for patients with a confirmed or suspected diagnosis of hereditary thrombotic thrombocytopenic purpura (hTTP) and their family members. Hereditary TTP is an ultra-rare blood disorder (prevalence of ∼1–2 cases per million), the result of autosomal-recessively inherited congenital ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) deficiency (ADAMTS13 activity <10% of the normal), and associated with yet many unanswered questions. Until December 2017, the Hereditary TTP Registry had enrolled 123 confirmed hTTP patients. Their median age at disease onset was 4.5 years (range: 0–70) and at clinical diagnosis 16.7 years (range: 0–69), a difference that highlights the existing awareness gap in recognizing hTTP. The systematic collection of clinical data of individual patients revealed their substantial baseline comorbidities, as a consequence of recurring TTP episodes in the past. Most notable was the high proportion of patients having suffered from premature arterial thrombotic events, mainly transient ischemic attacks, ischemic strokes, and to a lesser extent myocardial infarctions. At 40 to 50 years of age and above, more than 50% of patients had suffered from at least one such event, and many had experienced arterial thrombotic events despite regular plasma infusions every 2 to 3 weeks that supplements the missing plasma ADAMTS13. The article by van Dorland et al. (Haematologica 2019;104(10):2107–2115) and the ongoing Hereditary TTP Registry cohort study were recognized with the Günter Landbeck Excellence Award at the 50th Hemophilia Symposium in Hamburg in November 2019, the reason to present the Hereditary TTP Registry in more detail here.

Keywords

ADAMTS13 - thrombotic thrombocytopenic purpura - inherited coagulation disorders - arterial thrombosis - pregnancy


Publication History

Received: 20 September 2020

Accepted: 05 October 2020

Article published online:
13 November 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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