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Diseases

Genetic and Rare Diseases Information Center (GARD)

Factor XI deficiency


Other Names for this Disease
  • PTA deficiency
  • F11 deficiency
  • Rosenthal syndrome
  • Congenital factor XI deficiency
  • Rosenthal factor deficiency
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Overview

Factor XI deficiency is a bleeding disorder that interferes with the body's clotting process. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Women with factor XI deficiency may also experience heavy menstrual periods or heavy postpartum bleeding. Within affected people and their families, highly variable bleeding patterns occur, and bleeding risk can not be predicted by the level of factor XI (a clotting factor) in the blood.[1][2] Although the condition can affect people of all heritages, it is most common in people of Ashkenazi Jewish descent.[1] Most cases of factor XI deficiency are inherited and caused by changes (mutations) in the F11 gene. The condition is generally inherited in an autosomal recessive manner; however, it may follow an autosomal dominant pattern in some families.[3] Treatment is often only recommended during periods of high bleeding risk (i.e. surgery) and may include fresh frozen plasma and/or antifibrinolytics (medications that improve blood clotting). Factor XI concentrates may be available for factor replacement in some countries.[4][2][1]
Last updated: 2/5/2016

References

  1. Jamie E Siegel, MD. Factor XI Deficiency. Medscape Reference. October 2015; http://emedicine.medscape.com/article/209984-overview.
  2. Factor XI. National Hemophilia Foundation. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-XI. Accessed 2/7/2016.
  3. FACTOR XI DEFICIENCY. OMIM. April 2013; http://www.omim.org/entry/612416.
  4. Factor XI Deficiency. NORD. 2012; http://rarediseases.org/rare-diseases/factor-xi-deficiency/.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Factor XI deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • PTA deficiency
  • F11 deficiency
  • Rosenthal syndrome
  • Congenital factor XI deficiency
  • Rosenthal 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.