Acquired Bernard–Soulier-like syndrome due to a plasma-based inhibitor treated successfully with rituximab
Background: Bernard-Soulier syndrome (BSS) is an autosomal recessive disorder caused by deficient platelet glycoprotein Ib-IX-V expression resulting in abnormal bleeding, thrombocytopenia, giant platelets, and reduced platelet aggregation response to ristocetin that manifests in childhood. Acquired...
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Elsevier
2025-02-01
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| Series: | Research and Practice in Thrombosis and Haemostasis |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2475037925000512 |
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| author | Lauren G. Banaszak Paula A. Clark Christopher G. Peterson John Sheehan |
| author_facet | Lauren G. Banaszak Paula A. Clark Christopher G. Peterson John Sheehan |
| author_sort | Lauren G. Banaszak |
| collection | DOAJ |
| description | Background: Bernard-Soulier syndrome (BSS) is an autosomal recessive disorder caused by deficient platelet glycoprotein Ib-IX-V expression resulting in abnormal bleeding, thrombocytopenia, giant platelets, and reduced platelet aggregation response to ristocetin that manifests in childhood. Acquired BSS is a rare disorder characterized by Bernard–Soulier (BS)-like platelet dysfunction in a patient without a history consistent with a bleeding disorder. Key Clinical Question: Can acquired BSS respond to immune-directed therapy? Clinical Approach: We describe a case of a 79-year-old man presenting with refractory epistaxis found to have an isolated BS-like platelet function defect due to a plasma-based inhibitor. He was treated with rituximab with immediate cessation of bleeding and normalization of platelet function studies. Conclusion: To our knowledge, this is the first case of acquired BS-like syndrome described in the absence of systemic illness due to a presumed autoantibody, and we report the successful use of rituximab for treatment of this rare disorder. |
| format | Article |
| id | doaj-art-99e4d99e52cd4ba5ae089b824b12a98b |
| institution | OA Journals |
| issn | 2475-0379 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Research and Practice in Thrombosis and Haemostasis |
| spelling | doaj-art-99e4d99e52cd4ba5ae089b824b12a98b2025-08-20T02:24:34ZengElsevierResearch and Practice in Thrombosis and Haemostasis2475-03792025-02-019210272710.1016/j.rpth.2025.102727Acquired Bernard–Soulier-like syndrome due to a plasma-based inhibitor treated successfully with rituximabLauren G. Banaszak0Paula A. Clark1Christopher G. Peterson2John Sheehan3Department of Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA; University of Wisconsin Health Special Coagulation Lab, Madison, Wisconsin, USA; Correspondence Lauren G. Banaszak, Department of Medicine, University of Wisconsin-Madison, Clinical Science Center, 600 Highland Avenue, Room K6/520, Madison, WI 53792, USA.University of Wisconsin Health Special Coagulation Lab, Madison, Wisconsin, USADepartment of Oncology-Hematology, Aspirus Health, Wausau, Wisconsin, USADepartment of Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA; University of Wisconsin Health Special Coagulation Lab, Madison, Wisconsin, USA; University of Wisconsin Carbone Cancer Center, Madison, Wisconsin, USABackground: Bernard-Soulier syndrome (BSS) is an autosomal recessive disorder caused by deficient platelet glycoprotein Ib-IX-V expression resulting in abnormal bleeding, thrombocytopenia, giant platelets, and reduced platelet aggregation response to ristocetin that manifests in childhood. Acquired BSS is a rare disorder characterized by Bernard–Soulier (BS)-like platelet dysfunction in a patient without a history consistent with a bleeding disorder. Key Clinical Question: Can acquired BSS respond to immune-directed therapy? Clinical Approach: We describe a case of a 79-year-old man presenting with refractory epistaxis found to have an isolated BS-like platelet function defect due to a plasma-based inhibitor. He was treated with rituximab with immediate cessation of bleeding and normalization of platelet function studies. Conclusion: To our knowledge, this is the first case of acquired BS-like syndrome described in the absence of systemic illness due to a presumed autoantibody, and we report the successful use of rituximab for treatment of this rare disorder.http://www.sciencedirect.com/science/article/pii/S2475037925000512autoantibodyBernard-Soulier syndromebleedingplatelet aggregometryplatelet disorder |
| spellingShingle | Lauren G. Banaszak Paula A. Clark Christopher G. Peterson John Sheehan Acquired Bernard–Soulier-like syndrome due to a plasma-based inhibitor treated successfully with rituximab Research and Practice in Thrombosis and Haemostasis autoantibody Bernard-Soulier syndrome bleeding platelet aggregometry platelet disorder |
| title | Acquired Bernard–Soulier-like syndrome due to a plasma-based inhibitor treated successfully with rituximab |
| title_full | Acquired Bernard–Soulier-like syndrome due to a plasma-based inhibitor treated successfully with rituximab |
| title_fullStr | Acquired Bernard–Soulier-like syndrome due to a plasma-based inhibitor treated successfully with rituximab |
| title_full_unstemmed | Acquired Bernard–Soulier-like syndrome due to a plasma-based inhibitor treated successfully with rituximab |
| title_short | Acquired Bernard–Soulier-like syndrome due to a plasma-based inhibitor treated successfully with rituximab |
| title_sort | acquired bernard soulier like syndrome due to a plasma based inhibitor treated successfully with rituximab |
| topic | autoantibody Bernard-Soulier syndrome bleeding platelet aggregometry platelet disorder |
| url | http://www.sciencedirect.com/science/article/pii/S2475037925000512 |
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