(Constitutional proconvertin deficiency, hypo-proconvertinemia, sometimes "Alexander disease", not to be confused with the leukodystrophy carrying the same name).

Prevalence: 1 / 300,000 to 500,000 cases. Autosomal recessive transmission of mutations of the F7 gene (13q34). Hemorrhagic disease due to a congenital deficiency in the clotting factor VII . Large phenotypic variations (ranging from a subclinical biological anomaly to very severe hemorrhages, especially cerebral) without direct correlation with the factor VII blood levels (but the hemorrhagic forms occur generally in the patient with a factor VII  less than 30 % or 10U/100 ml). Very rare: acquired deficiency in FVII in the context of a nephroblastoma

Anesthetic implications: 

in case of clinical symptomatology, transfusion of recombinant FVIIa  in order to obtain a circulating level of FVII between 15 and 25 %, which seems to be sufficient to achieve normal hemostasis during surgery.

References : 

-         Carpenter SL, Abshire TC, Anderst JD,et al. 
Evaluating for suspected child abuse : conditions that predispose to bleeding. 
Pediatrics 2013; 131: e1357-73.

-         Bonhomme F, Schved J-F, Giansily-Blaizot M, Samama C-M, de Moerloose P. 
Déficits rares de la coagulation et gestes invasifs.
Ann Fr Anesth Réanim 2013 ; 32 : 198-205. 

-        Charpidou T, Mika V, Schäffer L, Gautschi S et al.
Prise en charge d’une parturiente atteinte d’un déficit sévère en facteur VII (< 5 %).
Anesth Réanim 2019 ; 5 :112-4 

-        Granger J, Gidvani VK.
Acquired Factor VII deficiency associated with Wilms tumor.
Pediatr Blood Cancer 2009; 52:394-5.

Updated: November 2020