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Inherited coagulation disorder resulting in life-long bleeding tendency in homozygotes with poor wound healing and easy bruising.

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Congenital Factor XIII Deficiency.

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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.

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

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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.

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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.

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

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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.

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Suspect FXIII deficiency when bleeding exists in the presence of normal coagulation parameters and platelet count. Consult hematologist for treatment recommendations and availability of FXIII concentrates. Treat patients emergently with fresh-frozen plasma 5 ml/kg.

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Avoid regional anesthesia. Ensure blood bank support. Avoid IM injections.

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Avoid aspirin and nonsteroidal antiinflammatory drugs.

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Acquired FXIII Deficiency: Caused by liver disease, inflammatory bowel disease, and disseminated intravascular coagulation but has no clinically relevant bleeding.

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Other Congenital Coagulation Factor Deficiencies (Dysfibrinogenemia, Decreased Fibrinogen Levels): Differential diagnosis is obtained following proper laboratory examinations.

Anwar R, Miloszewski KJ: Factor XIII deficiency. Br J Haematol 107:468, 1999.  [PubMed: 10583246]
Gerlach R, Tolle F, Raabe A, et al: Increased risk for postoperative hemorrhage after intracranial surgery in patients with decreased factor XIII activity: Implications of a prospective study. Stroke 33:1618, 2002.  [PubMed: 12053001]
Pernod G, Barro C, Arnutti B, et al: Surgery in severe factor XIII deficiency: Report of a case of epilepsy neurosurgery and review. Haemophilia 9:121, 2003.  [PubMed: 12558790]

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