Acquired Bernard-Soulier-like syndrome due to a plasma-based inhibitor treated successfully with rituximab

Lauren G Banaszak; Paula A Clark; Christopher G Peterson; John Sheehan

doi:10.1016/j.rpth.2025.102727

Acquired Bernard-Soulier-like syndrome due to a plasma-based inhibitor treated successfully with rituximab

Res Pract Thromb Haemost. 2025 Mar 12;9(2):102727. doi: 10.1016/j.rpth.2025.102727. eCollection 2025 Feb.

Authors

Lauren G Banaszak^{1

2}, Paula A Clark², Christopher G Peterson³, John Sheehan^{1

2

4}

Affiliations

¹ Department of Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA.
² University of Wisconsin Health Special Coagulation Lab, Madison, Wisconsin, USA.
³ Department of Oncology-Hematology, Aspirus Health, Wausau, Wisconsin, USA.
⁴ University of Wisconsin Carbone Cancer Center, Madison, Wisconsin, USA.

Abstract

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.

Keywords: Bernard-Soulier syndrome; autoantibody; bleeding; platelet aggregometry; platelet disorder.

Publication types

Case Reports