[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 %, sufficient to achieve normal hemostasis during surgery. 

References:

Updated: February 2019