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Semin Thromb Hemost
DOI: 10.1055/s-0044-1787662
Review Article

Emicizumab in Type 3 von Willebrand Disease: Report of a Case with an Alloantibody and Literature Review

Anna C. Giuffrida   *
1   Transfusion Medicine Department, Hemophilia Center, Integrated University Hospital, Verona, Italy
,
Simona M. Siboni   *
2   IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy
,
Luciano Baronciani
2   IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy
,
Giovanni Poli
3   Section of Clinical Biochemistry, University of Verona, Verona, Italy
,
Giorgio Gandini
1   Transfusion Medicine Department, Hemophilia Center, Integrated University Hospital, Verona, Italy
,
Flora Peyvandi
2   IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy
› Author Affiliations Funding This study was partially supported by the Italian Ministry of Health - Bando Ricerca Corrente (RC2023). Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico is a member of the European Reference Network EuroBloodNet.
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Abstract

Type 3 von Willebrand disease (VWD), the most severe form of VWD, is an inherited recessive bleeding disorder caused by the complete deficiency of von Willebrand factor (VWF). The reported prevalence is 1 per million but varies worldwide according to the frequency of consanguineous marriages. The clinical phenotype is characterized not only by mucocutaneous bleedings, but also by hemarthroses and muscle hematoma, as in patients with moderate hemophilia. Long-term prophylaxis with factor (F)VIII/VWF concentrates is recommended in patients with a history of severe and frequent bleeds. A rare complication of replacement therapy is the development of alloantibodies against VWF, with the consequences of an ineffective therapy and risk of anaphylactic reactions upon treatment. Emicizumab is the first bispecific monoclonal antibody that mimics FVIII coagulant activity and is approved for prophylaxis of bleeding in patients with inherited hemophilia A with or without inhibitors and recently also for acquired hemophilia. In this manuscript we report and discuss available data in the literature on the use of emicizumab in type 3 VWD and describe the case of a female patient with type 3 VWD with a history of alloantibodies against VWF and posttransfusion anaphylaxis, recently and successfully put on off-label prophylaxis with emicizumab.

Keywords

von Willebrand disease - type 3 VWD - inhibitors - emicizumab

Authors' Contributions

Contribution: A.C.G. and S.M.S. collected data, conceived and wrote the manuscript. L.B. and G.P. performed laboratory tests and revised the content of the manuscript. G.P., G.G., and F.P. revised the content of the manuscript. All authors read and final approved the manuscript.


* Both authors contributed equally to this article.




Publication History

Article published online:
27 June 2024

© 2024. Thieme. All rights reserved.

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