CHU Montpellier, laboratoire central d’hématologie, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5.
Severe inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder with a poor relationship between FVII coagulant activity and bleeding tendency. Both clinical expression and mutational spectrum of FVII deficiency are highly variable. The clinical features vary from epistaxis, modest or severe postoperative bleeding, to life-threatening intracranial hemorrhages. On the other hand, several asymptomatic patients with a FVII coagulant activity level inferior to 1% of normal have been reported. In addition, at least 70 different mutations underlying the FVII deficiency phenotype have been already published. The overwhelming majority of these mutations are single base pair substitution and have been reported only once. The phenotypic-genotypic relationships are still not clearly characterized. Specific treatment requires factor VII replacement. The dosage of the different therapeutics and the plasma FVII levels to be reached are still a matter of debate.