Factor XI deficiency
Other Names for this Disease
- PTA deficiency
- F11 deficiency
- Rosenthal syndrome
- Congenital factor XI deficiency
- Rosenthal factor deficiency
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. Although the condition can affect people of all heritages, it is most common in people of Ashkenazi Jewish descent. 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. 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.Factor XI deficiency is a
Last updated: 2/5/2016
- Jamie E Siegel, MD. Factor XI Deficiency. Medscape Reference. October 2015; http://emedicine.medscape.com/article/209984-overview.
- Factor XI. National Hemophilia Foundation. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/Factor-XI. Accessed 2/7/2016.
- FACTOR XI DEFICIENCY. OMIM. April 2013; http://www.omim.org/entry/612416.
- Factor XI Deficiency. NORD. 2012; http://rarediseases.org/rare-diseases/factor-xi-deficiency/.
- Read more about Factor XI deficiency on the National Hemophilia Foundation Web site.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The World Federation of Hemophilia offers an information page on Factor XI deficiency. Please click on the link to access this resource.
- 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.
- 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.