Which clinical history findings are characteristic of factor XIII (FXIII) deficiency?

Updated: Apr 02, 2018
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Perumal Thiagarajan, MD  more...
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Answer

The following symptoms should trigger an evaluation for factor XIII (FXIII) deficiency:

  • Spontaneous miscarriages early in pregnancy

  • Bleeding from the umbilical cord 1-19 days after birth

  • Easy bruising and soft tissue bleeding, particularly in association with trauma, as the infant starts to ambulate; bleeding following trauma may be immediate, delayed, and/or recurrent

  • CNS hemorrhage, which is common and recurs in approximately 30% of patients, and may be the initial manifestation in patients with severe FXIII deficiency.

  • CNS bleeding may be preceded by head trauma in children, while adults may develop a CNS bleed in the absence of obvious trauma.

  • Symptoms typical of any CNS event may be present, eg, headaches, seizures, vomiting, and focal neurologic defects. Symptoms may be acute at onset or may be superimposed on residual findings of a past bleed

  • Menorrhagia and intra-abdominal bleeding during menses may be present

  • Bleeding into joints may be precipitated by trauma. Although reports exist of recurrent target joint bleeds, destructive changes in the joints are uncommon. [3] Spontaneous joint and extensive muscle bleeding, characteristic of patients with severe hemophilia, are uncommon in patients with severe FXIII deficiency.

  • The severity of bleeding is variable. An unusual example is the history of a very mild bleeding disorder in 2 sisters despite severely reduced levels of FXIII (<1%). One of the sisters had 2 successful pregnancies without product replacement (see Causes for details). [73]

  • Poor wound healing, although described, is less common.

  • Heterozygous parents of a proband with severe bleeding usually are asymptomatic, although some cases of bleeding in heterozygotes have been reported.

  • Development of alloantibodies is a serious complication that results in increased bleeding and a lack of response to usual therapy. This condition can have fatal consequences (see DDx: Diagnostic Considerations for more information).

  • Autoantibodies to FXIII are an acquired cause of a bleeding diathesis. A detailed drug history is essential in assessing the possible contribution to inhibitor development. As the frequency of tuberculosis rises worldwide and the use of isoniazid increases, the number of patients with inhibitors may increase (see DDx: Diagnostic Considerations for more information).

  • Patients may have acute and/or chronic viral illnesses transmitted by less-pure products, such as fresh frozen plasma or cryoprecipitate, that are used to treat bleeding. HIV-related illnesses, AIDS, chronic hepatitis, progressive hepatic failure, and parvovirus-related illnesses present in the usual manner.


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