[MIM 227 500]

Prevalence 1-9/1.000.000. Congenital deficiency in coagulating factor VII (proconvertin). Mutations of the F7 gene (13q34). Very variable clinical expression. 

The clinical severity is not correlated with the in vitro FVII activity levels.

It can present as:

-        very severe clinical picture with early occurrence of intracerebral hemorrhages or recurrent hemarthroses,

-        mucocutaneous hemorrhages (epistaxis, menorrhagia) or hemorrhages during surgery

-        no symptoms despite a very low FVII level.

 

Anesthetic implications: 

transfusion of recombinant FVIIa  aiming at a circulating level of FVII between 15 and 25 %, a level sufficient to achieve normal hemostasis during surgery or for a perimedullar anesthesia/analgesa. 

References:

-        Hyers B, Cabrera C, Walsh C et al.
Anesthetic management with labor epidural analgesia of the parturient with severe factor VII deficiency: a case report.
Reg Anesth Pain Medicine 2024;  10.1136/rapm-2024-105674 

Updated: July 2024