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Presentation Details
| Deep Vein Thrombosis Following Calf Hematoma in a Pediatric Patient with Factor VII Deficiency Grace Hause, OMS-II1, Fred Loeffler, PT, DPT, LAT, ATC, CLT2, Stephanie Garrison, NP3, Nihal Bakeer, MD3, 4, 5, Eman Abdelghani, MD3. 1Marian University Wood College of Osteopathic Medicine, Indianapolis, IN, USA.2Physical Therapy, Indiana Hemophilia and Thrombosis Center, Innovative Hematology Inc., Indianapolis, IN, USA.3Innovative Hematology Inc./ Indiana Hemophilia and Thrombosis Center (IHI/IHTC), Indianapolis, IN, USA.4Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.5Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA, USA |
Abstract
Background: Congenital Factor VII (FVII) deficiency is a rare inherited bleeding disorder characterized by reduced activity of FVII. Although it predisposes to bleeding, thrombotic events have been reported in 3–4% of patients, usually in the presence of additional prothrombotic risk factors. Reports of thrombosis in pediatric patients with FVII deficiency are exceedingly rare. This case report describes a pediatric patient with mild FVII deficiency who developed a traumatic left lower extremity (LLE) hematoma, leading to deep vein thrombosis (DVT) that required an innovative personalized approach to evaluation and treatment. The case also highlights the novel use of Point-of-Care Musculoskeletal Ultrasound (POC MUSKUS) for evaluation and monitoring during treatment. Case report: The patient, a 15-year-old Black male, with a known diagnosis of mild FVII deficiency (FVII activity 23–29%). Genetic testing identified a heterozygous missense mutation in exon 9 of the F7 gene (F7:c.[1123C>T];=), a pathogenic variant described in the FVII mutation database as a cause for FVII deficiency. His bleeding history included gingival bleeding, epistaxis, and rectal bleeding. He presented with LLE tenderness, swelling, and inability to bear weight a week after a basketball injury. Doppler ultrasound revealed an occlusive DVT extending through the left mid to distal popliteal, peroneal, and posterior tibial veins, and a left medial calf muscle hematoma. Given the high risk of hematoma expansion with anticoagulation, a careful balance between thrombosis management and bleeding prevention was required. The patient was started on prophylactic unfractionated heparin drip along with recombinant FVIIa (rFVIIa) infusions every 6 hours to maintain hemostasis. By hospital day 1 (HD#1), he was transitioned to prophylactic enoxaparin, and on HD#2, with improvement in clot burden and reduction in hematoma size, rFVIIa infusions were reduced to twice daily while enoxaparin was escalated to therapeutic dosing. On HD#3, his symptoms continued to improve. He was discharged on therapeutic enoxaparin. Follow-up three days later with POC MUSKUS was consistent with an organizing subacute hematoma. As a result, twice-weekly rFVIIa infusions were resumed while maintaining anticoagulation. Inherited thrombophilia workup was negative. Serial POC MUSKUS demonstrated progressive resolution of the hematoma: at ten days, decreasing size and echogenicity; at three weeks, resolving hematoma with liquefaction of blood products; and by six weeks, interval resolution of muscle hematoma and DVT [Figure 1]. Both enoxaparin and rFVIIa were discontinued, and the patient resumed full activity. Follow-up at three months with no evidence of post-thrombotic syndrome and near normal sonographic muscle architecture, and the patient remained asymptomatic at nine months. Conclusion: This case underscores the clinical complexity of managing concurrent bleeding and thrombotic risks in patients with FVII deficiency. Despite a known bleeding disorder, FVII deficiency does not preclude thrombosis, particularly in the setting of obesity, trauma, and immobilization. Furthermore, this report demonstrates the utility of POC MUSKUS as a noninvasive, real-time imaging modality for safely monitoring hematoma evolution and guiding treatment decisions in patients with coagulopathies. The successful outcome supports an individualized, multidisciplinary approach balancing anticoagulation with replacement therapy in managing thrombosis in bleeding disorders.
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