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At a glance

Inherited coagulation disorder resulting in life-long bleeding tendency in homozygotes with poor wound healing and easy bruising. The presence of severe bleeding diathesis is characterized by recurrent soft tissue bleeding, poor wound healing, and a high incidence of intracranial hemorrhage. The presence of normal coagulation screening tests, including prothrombin time (PT), partial thromboplastin time (PTT), fibrinogen level, platelet count, and bleeding time and a history of severe bleeding diathesis should be considered a Factor XIII deficiency until proven otherwise.

Synonym

Congenital Factor XIII Deficiency.

History

Coagulation disorder first described by François Henri Duckert, a Swiss hematologist, in 1960 (before factor XIII [FXIII], the “forgotten coagulation factor” was considered a clotting factor). Factor XIII was determined to be a coagulation factor in the coagulation cascade in 1963.

Incidence

Approximately 1:2 to 5,000,000 population.

Genetic inheritance

Autosomal recessive, often with consanguinity. Caused by mutations (>40) in the gene encoding the catalytic α subunit on chromosome 6. Whereas the concentration of β subunits is relatively normal, the α subunit is absent in plasma, platelets, and monocytes and results in severe bleeding diathesis.

Pathophysiology

FXIII is a transglutaminase enzyme that forges covalent bonds between adjacent strands of monomeric fibrin after thrombin activation, thereby converting fibrin monomers into fibrin polymer. Deficiency leads to clot instability, bleeding, and poor wound healing. This disease has a high incidence of intracranial bleeding (>25%) and is commonly diagnosed in the neonatal period, when bleeding is noted at the umbilical stump.

Diagnosis

Umbilical stump bleeding is pathognomonic. Laboratory diagnosis requires a clot solubility test with 5M of urea or 1% monochloroacetic acid, or FXIII assay.

Clinical aspects

Umbilical stump bleeding (>90%), intracranial bleeding (>25%), superficial bleeding/subcutaneous hematomas (>50%), hemarthrosis (25%), normal prothrombin time, partial thromboplastin time, and platelet count. Treatment usually entails fresh-frozen plasma 5 mL/kg at monthly intervals as prophylaxis. Treatment with cryoprecipitate is effective. Virally inactivated FXIII concentrates exist but are reportedly not commercially available everywhere.

Precautions before anesthesia

The presence of severe bleeding diathesis is characterized by recurrent soft tissue bleeding, poor wound healing, and a high incidence of intracranial hemorrhage. The presence of normal coagulation screening tests, including PT, PTT, fibrinogen level, platelet count, and bleeding time and a history of severe bleeding diathesis should be considered a Factor XIII deficiency until proven otherwise. Clot dissolution in urea can be used as a screening test. Cryoprecipitate or a plasma-derived Factor XIII concentrate can also be used to correct the deficit before surgery. Factor XIII has a long circulating half-life of 7 to 12 days. Adequate hemostasis is achieved with even very low plasma concentrations (1-3%). If time permits, it is ...

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