Heterozygous congenital Factor VII deficiency with the 9729del4 mutation, associated with severe spontaneous intracranial bleeding in an adolescent male

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• 作者：Thomas J. Cramer^a ; ^{t.j.cramer@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Kristin Anderson^a ; ^{knanders@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Karanjia Navaz^b ; ^{nkaranjia@ucsd.edu" class="auth_mail" title="E-mail the corresponding author} ; Justin M. Brown^c ; ^{jmbrown@ucsd.edu" class="auth_mail" title="E-mail the corresponding author} ; Laurent O. Mosnier^d ; ^{lmosnier@scripps.edu" class="auth_mail" title="E-mail the corresponding author} ; Annette von Drygalski^a ; ^d ; ^{avondrygalski@ucsd.edu" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Factor VII deficiency ; Spontaneous intracranial hemorrhage ; Recombinant Factor VII ; EPCR
• 刊名：Blood Cells, Molecules and Diseases
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：57
• 期：Complete
• 页码：8-12
• 全文大小：304 K

文摘

In congenital Factor (F) VII deficiency bleeding phenotype and intrinsic FVII activity levels don't always correlate. Patients with FVII activity levels < 30% appear to have a higher bleeding propensity, but bleeding can also occur at higher FVII activity levels. Reasons for bleeding at higher FVII activity levels are unknown, and it remains challenging to manage such patients clinically.

Case

A 19 year old male with spontaneous intracranial hemorrhage and FVII activity levels of 44%, requiring emergent surgical intervention and a strategy for FVII replacement. Genotyping showed the rare heterozygous FVII 9729del4 mutation. Bleed evacuation was complicated by epidural abscess requiring craniectomy, bone graft procedures, and prolonged administration of recombinant human (rh) activated FVII (FVIIa). The patient recovered without neurological deficits, and remains on prophylactic low dose treatment with rhFVIIa in relation to risky athletic activities.

Conclusion

For clinicians, it is important to recognize that effects of rhFVIIa within these pathways are independent of its contribution to blood clot formation and cannot be assessed by clotting assays. Reduced FVII levels should therefore not be dismissed, as even a mild reduction may result in spontaneous bleeding. Treatment of mild FVII deficiency requires a careful case-by-case approach, based on the clinical scenario.