Presentation Details
| Recurrent Venous Thromboembolism in a Symptomatic Hemophilia A Carrier Natalie/A Montanez1, 3, Joanna/M Larson1, 3, Miguel/A Escobar1, 2, 3. 1University of Texas Health Science Center of Houston, McGovern Medical School, Department of Pediatrics, Houston, TX, USA.2University of Texas Health Science Center of Houston, McGovern Medical School, Department of Internal Medicine, Houston, TX, USA.3Gulf States Hemophilia and Thrombophilia Center, Houston, TX, USA |
Abstract
Background: We present a symptomatic female carrier for hemophilia A who developed recurrent venous thromboembolism in the setting of a central venous access device with recurrent administration of human plasma-derived C1 esterase inhibitor (C1-INH) intravenous infusions for management of presumed hereditary angioedema. Objectives: Discuss a single case report of a symptomatic female carrier for hemophilia A with evidence of recurrent venous thromboembolism requiring anticoagulation therapy. Methods: Case report, retrospective EMR review with IRB exemption. Results: A 37-year-old Hispanic symptomatic hemophilia A carrier (Baseline FVIII: OS 99%, FVIII:C 60%, Genotype- Heterozygous c.2167G>A (p. Ala723Thr), ISTH BAT Score 10) presented with shortness of breath, chest pain, and syncope shortly following intravenous infusion of human plasma-derived C1-esterase inhibitor for management of presumed hereditary angioedema. Patient was tachycardiac, tachypneic, and febrile upon ER arrival. CT angiogram (CTA) chest revealed a left lower lobe lateral basilar segmental pulmonary embolism. Patient was initially treated with IV unfractionated heparin for 5 days prior to being discharged on PO apixaban for a total of 6 months. During the course of anticoagulation therapy patient experienced heavy menstrual bleeding and recurrent episodes of hematuria requiring temporary interruption in anticoagulation, resulting in recurrent venous thromboembolism (VTE) two months following initial thrombotic event with evidence of an acute left subclavian and axillary deep vein thrombosis. Acquired and congenital thrombophilia studies were negative (APLAs, ADAMTS13, F2, F5, F9, FGB, FGG, MPL, PROC, PROS1, SERPINC1, THBD). Diagnosis of hereditary angioedema was ruled out and human plasma-derived C1-INH therapy was discontinued. Conclusion: This case depicts the challenges of balancing risk vs benefits of anticoagulation in symptomatic hemophilia carriers with bleeding symptoms on anticoagulation and recurrent thrombosis with interruption in anticoagulation therapy. Thromboembolic events associated with human plasma-derived C1-INH use have been reported in the U.S. Food and Drug Administration (FDA) Adverse Event Reporting System database, although thrombogenicity of medication remains debated. Initiation of anticoagulation in a hemophilia carrier should be evaluated on an individual basis, considering the risk vs benefits of anticoagulation in the context of factor VIII activity levels and clinical phenotype. Recently published clinical practice guidance document from EHA-ISTH-EAHAD-ESO on antithrombotic treatment in patients with hemophilia may be referenced for recommended approach for balancing thrombosis and hemostasis when using anticoagulant treatments in a patient with hemophilia.
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No part of this publication may be reproduced, distributed, or transmitted in any form or by any means, including photocopying, recording, or other electronic or mechanical methods, without the prior written permission of the author.