[MIM 612 416]

(Rosenthal disease, constitutional deficiency in factor XI)

It is a hereditary coagulation disorder characterized by a reduction in factor XI (FXI) activity and/or antigen, leading to more or less severe bleeding after trauma or surgery. Congenital factor XI deficiency is due to mutations of the F11 gene (4q35), which controls the production of plasma factor XI. The transmission is mainly autosomal recessive, but the observation of bleeding in heterozygotes suggests that autosomal dominant transmission is also possible. The prevalence of homozygous forms is estimated at 1/1,000,000. The disease is more common among Ashkenazi Jews, where the incidence of partial deficiency is 8 %. The disease affects equally men and women, and manifests itself at any age.

Bleeding can occur especially after trauma or surgery (particularly ENT and urogenital surgery). Spontaneous bleeding does not usually occur, but women may experience menorrhagia. Bleeding is usually moderate. However, undiagnosed and untreated patients may develop significant hematomas after surgery. Bleeding severity is not correlated with FXI blood levels.

Diagnosis: prolonged aPTT and reduced factor XI levels. This level is less than 20 IU/dL in case of severe deficiencies and varies between 20 and 60 IU/dL in case of partial deficiencies.

In case of tooth extraction or surgery, treatment with factor XI concentrate or fresh-frozen plasma may be necessary.

Antifibrinolytics (tranexamic acid p os or IV started preoperatively) are used to prevent hyperfibrinolysis caused by factor FXI deficiency. The prognosis is favorable, 

Anesthetic implications: 

Coagulation evaluation; bleeding prevention according to specialist advice. Pre- and intraoperative thromboelastograms are useful for assessing the quality of coagulation in vivo. Pre-, intra- and post-operative tranexamic acid.

Administration of 1 IU/kg of factor XI concentrate increases plasma levels by 1.5 to 2.5 IU/100 ml: maximum 30 IU/kg. Administering 15-20 ml/kg of PFC increases FXI levels by 10-20 % (beware of the risk of hypervolaemia and transfusion reaction).

There is a thrombotic risk if Factor XI levels exceed 70 %.

A blood level in excess of 30 IU/dL (normal level in late pregnancy: 60-150 IU/dL) is required to perform a perimedullary block in obstetrics.

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. 

-         Schaal J-V, Jarrasier A, Renner J, Salvadori A, Pelletier C, Villevieille T. 
Analgésie obstéricale chez une parturiente atteinte d’un déficit en facteur XI : défi inconsidéré ou risque raisonné ? 
Ann Fr Anesth Réanim 2013 ; 32 : 436-8.

-        Tan AYJ, Macachor JD, Hee HI.
Managing the marginally raised aPTT : looking beyond the absolute number.
Pediatr Anesth 2017 ; 27 : 779-80. 

-        Flaujac C, Faille D, Lavenu-Bombled C, et al.
Perioperative management and neuraxial analgesia in women with factor XI deficiency : a French multicenter observational study of 314 pregnancies.
Res Pract Thromb Haemost. 2024, 8:102462.

-        Martinez-Lopez P, Barroso-Gonzalez A.
Anesthetic implications of Factor XI deficiency: a clinical case study and review of literature.
Cureus 2024 ; 16(10): e72594. DOI 10.7759/cureus.72594

Updated: November 2024