Pediatric Factor XIII Deficiency Clinical Presentation

Updated: Mar 15, 2019
  • Author: Helge Dirk Hartung, MD; Chief Editor: Cameron K Tebbi, MD  more...
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Presentation

History

The bleeding diathesis in inherited factor XIII (FXIII) deficiency is severe in most patients. Bleeding from the stump of the umbilical cord within the first days to weeks of life is a characteristic sign that occurs in 80% of affected individuals; bleeding from this specific site is uncommon in other inherited hemostatic diseases except afibrinogenemia. Additional signs of bleeding include the following:

  • CNS hemorrhage is frequent (25-30%) and may occur spontaneously or after minor trauma. Prevention of this complication is the major rationale for initiating prophylactic therapy.

  • Infants are at risk of bleeding immediately after birth; the greatest concern relates to CNS hemorrhage.

  • Soft tissue bleeding and bruising are very common, as is bleeding into the mouth and gums during teething.

  • Hemarthroses occur in 20% of cases; however, the incidence is less frequent than in severe hemophilia.

  • Bleeding that is delayed (ie, 12-36 h) after trauma or surgery is pathognomonic of factor XIII deficiency.

  • Recurrent spontaneous abortions are very common in women with factor XIII deficiency who do not receive factor XIII replacement.

  • Women with inherited disease often experience menorrhagia.

  • Wound healing is abnormal in a subset of patients.

While the majority of heterozygous individuals are completely asymptomatic, some persons who carry a single mutated copy of the F13A1 or F13B gene have 20-60% of the normal factor XIII level and may experience bleeding after major trauma, surgery, or dental work.

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Physical

Physical manifestations related to bleeding may include the following:

  • Persistent bleeding from the stump of the umbilical cord in newborns [5]

  • Soft tissue and subcutaneous bleeding

  • Neurologic findings commensurate with CNS hemorrhage

  • Bleeding in the oral cavity

  • Hemarthroses or periarticular bleeding

  • Poor wound healing

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