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Presentation Details
| Case Report of a Pediatric Patient with Congenital Factor VII Deficiency (4%) using Human Recombinant Factor VIIa Eptacog-Beta as Secondary Prophylaxis Ashley Wehrle1, Anuj Kaul1, Clayton Kubrick1, Nicoletta Machin1, 2, Craig Seaman1, 2, Frederico Xavier1, 2. 1the Hemophilia Center of Western Pennsylvania, Pittsburgh, PA, USA.2University of Pittsburgh, Pittsburgh, PA, USA |
Abstract
Background: Recombinant Factor VIIa Eptacog beta, HEMA Biologics & LFB, is a recombinant human factor VIIa product FDA approved in June 2024 for the treatment of bleeding episodes in adults and adolescents with hemophilia A or B with inhibitors. Until now, there is limited literature describing the use of this product in patients with congenital factor VII deficiency. Currently, patients with congenital factor VII deficiency only have the option of using recombinant factor VIIa Eptacog alfa. Due to its short half-life, patients require frequent prophylactic infusions to prevent bleeds as well as multiple doses to control breakthrough bleeding. Aims: The objective of this study is to gather information on current patients with congenital factor VII deficiency using Eptacog beta off-label due to reasons described in this paper. Methods: We will conduct a retrospective and prospective data collection from when Eptacog beta was FDA approved. The study will be limited to patients with congenital factor VII deficiency followed at the Hemophilia Center of Western Pennsylvania. All data will be deidentified. Analysis will be based on dose, usage, frequency, annualized bleed rate, description of bleeding events, population demographics, and list of side effects. Case Report: Here we describe a 16-year-old female with compound diagnosis of factor VII deficiency (factor VII activity 4%), von Willebrand type 1 (Risto:Co 38, VWAg 69, FVIII 71, GP1bM 49, Collagen Biding 28, EPI/Collagen 191s and ADP/Collagen 149 s) and epilepsy. She is a compound heterozygote for two likely pathogenic variants in the F7 gene: F7c.106C>T (p.A354V) missense variant and F7c.1340G>A (p.G435E) missense variant, and also carries one variant of unknown significance: F7c.1238G>A (p.R413Q) missense variant. The patient was initially diagnosed due to maternal family history. She was born with sagittal craniostenosis requiring surgical correction, hemostatically covered with multiple doses of recombinant FVII Eptacog alfa. Early in life, she presented with multiple bleeding episodes, including recurrent epistaxis and chronic GI bleeding with secondary anemia. Due to symptomatic chronic anemia, the patient eventually started prophylactic intravenous infusions of Eptacog alfa at age 3. She was managed on three times weekly Eptacog alfa prophylaxis for several years. Growing up, she required hormonal therapy for heavy menstrual bleeding starting at age of 9 years old. No changes were made to her regimen despite her occasional activity-induced bleeding events (Anualized Bleeding Rate of approximately 1.5 episodes per year from 2023-2024) until 2025. On February 2025 she had a spontaneous right knee hemarthrosis that was documented on both musculoskeletal point of care ultrasound and later by the presence of hemosiderin on MRI diffusion weighted imaging. Lyme testing, ANA, and CRP were all within normal limits. Due to the spontaneous hemarthrosis, her regimen was switched to Eptacog beta 3mg (40mcg/kg) twice weekly for prophylaxis. Since starting Eptacog beta, the patient has not reported any additional bleeding events. This case report suggests that the use of Recombinant Factor VIIa Eptacog beta in pediatric patients with congenital factor VII deficiency as prophylaxis should be explored considering the lack of options for this population.
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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.