Heterozygous congenital Factor VII deficiency with the 9729de14 mutation, associated with severe spontaneous intracranial bleeding in an adolescent male

Background: In congenital Factor (F) VII deficiency bleeding phenotype and intrinsic FVII activity levels always correlate. Patients with FVII activity levels <30% appear to have a higher bleeding propensity, but can also occur at higher FVII activity levels. Reasons for bleeding at higher FVII activity levels are unknown, and remains challenging to manage such patients clinically. Case: A 19 year old male with spontaneous intracranial hemorrhage and FVII activity levels of 44%, emergent surgical intervention and a strategy for EVIL replacement. Genotyping showed the rare FVII 9729de14 mutation. Bleed evacuation was complicated by epidural abscess requiring craniectomy, graft procedures, and prolonged administration of recombinant human (rh) activated FVII (FVIIa). The recovered without neurological deficits, and remains on prophylactic low dose treatment with rhFVIIa in to risky athletic activities. Conclusion: For clinicians, it is important to recognize that effects of rhFVIIa within these pathways are dent of its contribution to blood clot formation and cannot be assessed by clotting assays. Reduced FVII should therefore not be dismissed, as even a mild reduction may result in spontaneous bleeding. Treatment mild FVII deficiency requires a careful case-by-case approach, based on the clinical scenario. (C) 2015 Elsevier Inc. All rights reserved.