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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Factor XIII deficiency


Other Names for this Disease

  • Congenital Factor XIII deficiency
  • Fibrin stabilizing factor deficiency
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Symptoms

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What are the signs and symptoms of factor XIII deficiency?

Factor XIII deficiency causes internal bleeding. The blood may seep into surrounding soft tissues several days after trauma, even mild trauma such as a bump or bruise. Pain and swelling may occur at the injury site prior to bleeding. If the bleeding continues, large cysts may form in the surrounding tissue that may destroy bone and cause peripheral nerve damage, usually in the thigh and buttocks areas. At birth, an infant with Factor XIII deficiency may bleed from the umbilical cord, which rarely occurs in other blood clotting disorders.[1]

The most serious hemorrhaging that can occur in Factor XIII deficiency is in the central nervous system (i.e., brain and spinal cord) following mild head trauma. This can occur in about 25 percent of affected individuals. In some cases, hemorrhaging may stop spontaneously without treatment.[1]

Females with Factor XIII deficiency who become pregnant are at high risk for miscarriage if they do not receive appropriate treatment. Men with this disorder may be sterile or have extremely low sperm counts. Replacing Factor XIII in these men does not correct sterility. Some of the less frequently seen symptoms are poor wound healing, excessive bleeding from wounds, blood blisters attached to the abdominal wall (retroperitoneal hematomas), and/or blood in the urine (hematuria).[1]

Some symptoms are seldom or never seen in people with Factor XIII deficiency, which may help to distinguish it from other bleeding disorders. These may include excessive blood loss during menstruation, hemorrhages within the eye, gastrointestinal bleeding, arthritis caused by an accumulation of blood in the joints, excessive bleeding after surgery, bleeding from mucous membranes, and/or tiny red spots on the skin. Factor XIII deficiency is not generally a threat to those who need surgery. The small amount of Factor XIII present in blood transfusions generally prevents bleeding. Excessive bleeding from wounds, abrasions, or even spontaneous abortions is not common unless a person with this disorder uses aspirin or similar medications.[1]
Last updated: 8/16/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Factor XIII deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormal umbilical stump bleeding -
Autosomal recessive inheritance -
Autosomal recessive inheritance -
Bruising susceptibility -
Bruising susceptibility -
Congenital onset -
Congenital onset -
Epistaxis -
Intracranial hemorrhage -
Joint hemorrhage -
Prolonged bleeding after surgery -
Reduced factor XIII activity -
Reduced factor XIII activity -
Spontaneous hematomas -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Factor XIII Deficiency. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/66/viewAbstract. Accessed 8/16/2011.


Other Names for this Disease
  • Congenital Factor XIII deficiency
  • Fibrin stabilizing factor deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.