PB0270 - Management of Dysfibrinogenemia in a Pediatric Patient Undergoing Scoliosis Repair: Case Report

Background: Congenital dysfibrinogenemia (CD) is associated with bleeding and thrombotic complications. Peri-operative management of CD for major surgeries can prove challenging, as Fibrinogen replacement therapy can potentiate thrombotic risk; relevant data guiding treatment in pediatric populations are scant

Aims: We report the case of a patient with dysfibrinogenemia who was successfully treated with fibrinogen replacement surrounding her scoliosis repair

Methods: Case description

Results: A 16-year-old female with idiopathic scoliosis was diagnosed with dysfibrinogenemia, after pre-operative testing revealed prolonged PT (19.9 seconds), elevated INR (1.7) and prolonged aPTT (36.6 seconds). Her bleeding score was 3, and her history significant for heavy menstruation and having raccoon eye as a child, after mild scalp trauma. No notable prior thrombotic events or contributory family history. Further testing revealed prolonged thrombin time (30), low fibrinogen activity (65 mg/dL), and normal fibrinogen antigen level at 161 mg/dL. Genetic testing identified a heterozygous, likely pathogenic, alteration in FGA c.112A>G, p.Arg38Gly, supporting the diagnosis of dysfibrinogenemia. She received replacement prior to surgery with Human Fibrinogen concentrate, (Fibryga®), with goal fibrinogen activity >150 during the immediate post-operative period. Post-replacement Fibrinogen antigen level was 318 mg/dL, while aim was to avoid levels higher than 400 mg/dL. She underwent an uneventful posterior spinal instrumentation and fusion with no blood transfusions or complications.
She was started on thromboprophylaxis with enoxaparin 48 hours after surgery, until date of discharge. She received additional 2 doses of fibrinogen, with subsequent goals of 100-150 mg/dL, starting post-operative day 5. She was discharged home with planned post-operative Fibrinogen replacement every 3 days, for 2 weeks and remained without bleeding or thrombotic complications.

Conclusion(s): 1) Consider hemostatic screening prior to major surgeries like scoliosis repair.
2) Mainstay treatment of congenital dysfibrinogenemia is fibrinogen replacement therapy to aim for activity levels >100-150 mg/dL.
3) Simultaneous thrombotic anticoagulation prophylaxis was well tolerated in our patient.