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Factor XIII deficiency
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Factor XIII deficiency

Factor XIII deficiency is a rare bleeding disorder that impairs the body's ability to stabilize blood clots, leading to abnormal and potentially life-threatening bleeding. The condition can be inherited from birth or acquired later in life.

Overview

Factor XIII deficiency is a rare bleeding disorder that exists in two forms: an inherited form that presents shortly after birth, and a milder, acquired form that develops later in life. The condition prevents blood clots from stabilizing properly, which can lead to prolonged, excessive, and sometimes life-threatening bleeding episodes.

Symptoms

The symptoms and severity of factor XIII deficiency depend on whether the condition is inherited or acquired.

Inherited Factor XIII Deficiency

Symptoms typically begin soon after birth and can be severe if untreated:

  • Abnormal bleeding from the umbilical cord stump in newborns.
  • Excessive and prolonged bleeding after surgery, dental work, or minor trauma.
  • Spontaneous bleeding into the joints or muscles, causing pain and disability.
  • Heavy or prolonged menstrual bleeding (menorrhagia) in women.
  • Recurrent pregnancy losses (miscarriages).
  • Nosebleeds and bleeding of the gums.
  • Easy bruising, poor wound healing, and abnormal scar formation.
  • An increased risk of spontaneous bleeding inside the skull (intracranial hemorrhage), which is the leading cause of death in people with this condition.

Acquired Factor XIII Deficiency

This form becomes apparent later in life. Affected individuals are less likely to experience severe or life-threatening bleeding episodes compared to those with the inherited form.

Frequency

Inherited factor XIII deficiency affects approximately 1 to 3 per million people worldwide. The acquired and mild forms of the disorder are believed to be underdiagnosed because many affected individuals never experience a major bleeding episode that would prompt a diagnosis.

Causes

Inherited Form

Inherited factor XIII deficiency is caused by mutations in either the F13A1 gene or, less commonly, the F13B gene. These genes provide instructions for making the subunits of the factor XIII protein. This protein is active at the end of the coagulation cascade—the series of chemical reactions that forms blood clots in response to injury. Factor XIII strengthens and stabilizes newly formed clots to prevent further blood loss. Mutations in these genes reduce functional factor XIII levels in the bloodstream to less than 5 percent of normal, weakening blood clots.

Acquired Form

Acquired factor XIII deficiency occurs when factor XIII production is reduced or when the body consumes the protein faster than it can be replaced. Bloodstream levels of factor XIII in the acquired form are typically 20 to 70 percent of normal (levels above 10 percent are usually sufficient to prevent spontaneous bleeding). Causes of the acquired form include:

  • Inflammatory liver diseases, such as hepatitis or scarring of the liver (cirrhosis).
  • Inflammatory bowel disease.
  • Overwhelming bacterial infections.
  • Several types of cancer.
  • Abnormal immune system activation, where the body produces specialized proteins called autoantibodies that attack and disable factor XIII. This can be associated with autoimmune diseases like systemic lupus erythematosus and rheumatoid arthritis, though sometimes the trigger is unknown.

Associated Genes

  • F13A1
  • F13B

Inheritance

Inherited factor XIII deficiency is inherited in an autosomal recessive pattern, meaning it occurs when both copies of either the F13A1 or F13B gene in each cell have mutations.

Individuals who carry a single mutated copy of either gene (such as the parents of an affected child) are carriers. They have reduced factor XIII levels (20 to 60 percent of normal) and may experience abnormal bleeding after surgery, major trauma, or dental work, though most carriers never show symptoms under normal circumstances.

The acquired form of factor XIII deficiency is not inherited and does not run in families.

Other Names for This Condition

  • Deficiency of factor XIII
  • Deficiency, Laki-Lorand factor
  • Fibrin stabilizing factor deficiency

Additional Resources

  • Genetic Testing Registry: Factor XIII, b subunit, deficiency of
  • Genetic Testing Registry: Factor XIII, A subunit, deficiency of
  • Genetic and Rare Diseases Information Center: Congenital factor XIII deficiency
  • National Organization for Rare Disorders (NORD)
  • ClinicalTrials.gov
  • OMIM: FACTOR XIII, A SUBUNIT, DEFICIENCY OF
  • OMIM: FACTOR XIII, B SUBUNIT, DEFICIENCY OF
  • PubMed

Frequently Asked Questions

Yes, successful pregnancies have been reported, but they require close multidisciplinary care. Factor XIII activity should be kept >10 % throughout pregnancy, typically by increasing the prophylactic dose of concentrate in the second and third trimesters. Serial activity levels are checked every 4–6 weeks, and a dose is given shortly before delivery (often within 1 hour of cesarean section or vaginal birth). Post‑partum, the dose is continued for at least 6 weeks to protect against delayed hemorrhage and to support wound healing.
Diagnosis relies on a combination of clinical history and laboratory testing. Standard coagulation panels (PT, aPTT) are usually normal, so a specific factor XIII activity assay or clot solubility test is required. Inherited cases often have a markedly reduced activity (5–10 %. Acquired deficiency, which is often secondary to autoimmune antibodies, massive transfusion, or liver disease, is managed by treating the underlying cause, supplementing with fresh frozen plasma or cryoprecipitate for short‑term control, and, when antibodies are present, using immunosuppressive therapy (e.g., steroids, rituximab) plus factor XIII replacement as needed.
Seek emergency care immediately for any of the following: uncontrolled epistaxis or gum bleeding that does not stop with pressure, sudden swelling or pain in a joint or muscle suggesting internal bleeding, heavy vaginal bleeding, unexplained bruising with rapid expansion, or any head injury with signs of concussion (headache, vomiting, altered consciousness) because intracranial hemorrhage is a leading cause of death in this disorder. Prompt administration of factor XIII concentrate can be life‑saving.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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