National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Factor XIII deficiency


Other Names:
Congenital Factor XIII deficiency; Fibrin stabilizing factor deficiency
Categories:
Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain.[1] FXIII deficiency is usually caused by mutations in the F13A1 gene, but mutations have also been found in the F13B gene. It is usually inherited in an autosomal recessive fashion. Acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia.[2]
Last updated: 8/16/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 28 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal umbilical stump bleeding 0011884
Umbilical cord hematoma 0030657
30%-79% of people have these symptoms
Cerebral hemorrhage
Bleeding in brain
0001342
Intramuscular hematoma 0012233
Joint hemorrhage
Bleeding within a joint
Hemarthrosis
[ more ] 		0005261
Oral cavity bleeding
Bleeding from mouth
0030140
Spontaneous hematomas 0007420
5%-29% of people have these symptoms
Bleeding with minor or no trauma
Easy bleeding
0011889
Delayed onset bleeding 0040232
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] 		0000421
Gingival bleeding
Bleeding gums
0000225
Menorrhagia
Abnormally heavy bleeding during menstruation
0000132
Persistent bleeding after trauma
Excessive bleeding after minor trauma
Frequent bleeding with trauma
Prolonged bleeding after minor trauma
[ more ] 		0001934
Poor wound healing 0001058
Post-partum hemorrhage
Bleeding post-delivery
0011891
Prolonged bleeding after dental extraction 0006298
Prolonged bleeding after surgery
Excessive bleeding during surgery
Protracted bleeding after surgery
[ more ] 		0004846
Prolonged bleeding following circumcision 0030137
Recurrent spontaneous abortion 0200067
1%-4% of people have these symptoms
Hepatic failure
Liver failure
0001399
Inflammation of the large intestine 0002037
Myeloid leukemia 0012324
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Congenital onset
Symptoms present at birth
0003577
Ecchymosis 0031364
Intracranial hemorrhage
Bleeding within the skull
0002170
Reduced factor XIII activity 0008357
Showing of 28 |
Last updated: 7/1/2020
Factor XIII replacement is used to treat bleeding, to prevent bleeding during surgical procedures, or to prevent recurrent bleeding (such as central nervous system or joint hemorrhages).[3] More detailed information about the treatment of factor XIII deficiency is available on the Medscape Reference website. You may need to register to view the article, but registration is free.
Last updated: 12/3/2019

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses mainly include the other congenital coagulation factor deficiencies: fibrinogen, factors II, V, VII, X, XI, VIII, IX (see these terms).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Factor XIII deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Factor XIIIA deficiency
    Factor XIIIB deficiency
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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.
  2. Congenital factor XIII deficiency. Orphanet. October 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=331. Accessed 8/16/2011.
  3. Schwartz RA. Factor XIII Deficiency. Medscape Reference. August 1, 2019; https://emedicine.medscape.com/article/209179-treatment.