[MIM 227 600]

(Congenital Stuart factor deficiency, congenital deficiency in Stuart-Prower factor)

Prevalence is estimated at 1/500,000, more frequent in populations where the risk of inbreeding is important. Autosomal recessive transmission of a mutation of the  F10 gene (13q34) resulting in a quantitative or qualitative deficiency of FX (prothrombinase). The tendency to bleeding varies according to the severity of the deficiency:

Different types:

-        severe form: blood level  < 10 % of normal

-        moderate: blood level 10-40 % of normal

-        minor form: blood level  > 40 % of normal

Severe forms become clinically apparent in the first month of life: persistent bleeding of the umbilical stump after its the fall of the cord, digestive hemorrhage, intracranial hemorrhage. Other forms: epistaxis, menorrhagia, hemarthroses, postoperative bleeding, significant traumatic hematomas.

Diagnosis: High PTT, high INR (International Normalized Ratio), low level of FX

Treatment: according to the severity of the bleeding,

-        superficial or moderate bleeding: local or systemic antifibrinolytic (tranexamic acid)

-        bleeding: ideally, concentrated FX to obtain a plasma concentration of 10-20 IU/dl (10-35 %), otherwise PFC or PPSB (risk of thrombotic complications)

Anesthetic implications:

look for the advice of the specialist in hemostasis; thromboelastography

References : 

-         Diesch T, von der Weid NX, Schifferli A, Khüne T.
Intracranial hemorrhage as the first manifestation of severe congenital Factor X deficiency in a 20-month-old male: case report and review of literature.
Pediatr Blood Cancer 2016; 63: 1300-4.

-        Yen CB, Katz DJ.
Management of Factor X deficiency for vaginal delivery in a parturient : a case report.
A&A Practice 2021 ; 15 : e01405

Updated: March 2021