Very rare: 1 to 2 cases per million. Autosomal recessive transmission.

The severity of clinical manifestations is variable depending on whether it is a - or hypofibrinogenemia or dysfibrigenemia:

- bleeding at the fall of the umbilical cord in 85 % of cases

- intracranial hemorrhage

- frequent epistaxis, mucosal bleeding, post-traumatic hematomas

- hemarthroses

- sometimes no clinical symptoms.

Diagnosis: strongly abnormal clotting tests (APTT, INR) and dosage of fibrinogen.

 Anesthetic implications: 

administer fibrinogen (30-100 mg/kg) in order to obtain a blood level greater than 100 mg/100 ml: one usually needs 30 mg/kg to increase the fibrinogen concentration up to 100 mg/100 ml; if no fibrinogen is available, fresh frozen plasma may be used instead. Dynamic monitoring of coagulation (thromboelastography: ROTEM® ); it is useful to administer an antifibrinolytic (tranexamic acid: 25 mg/kg/6 h orally or 10mg/kg/6 h IV). Warning: 20 to 30 % of those patients have a paradoxal thrombophilia and must be closely monitored in the postoperative period (risk of thromboembolic event ?).

References : 

• Goyal SS, Bhardwaj DV, Shenoy UK, Reddy B. 
  Anaesthetic management of a child with congenital afibrinogenemia- A rare inherited coagulation disorder. 
  Indian J Anaesth 2011; 55: 605-7.
• 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. 
• Aoki M, Osaka Y, ando K, Morita Y.
  Anesthesia experience for tonsillectomy in a patient with hypofibrinogenemia.
  A&A Practice 2019; 259-60

Updated June 2019