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<span>Factor XI deficiency</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/factor-xi-deficiency/</span>
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<h1>Factor XI deficiency</h1>
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<h2>Description</h2>
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<section><div class="mp-content"><p>Factor XI deficiency is a disorder that can cause abnormal bleeding due to a shortage (deficiency) of the factor XI protein, which is involved in blood clotting. This condition is classified as either partial or severe based on the degree of deficiency of the factor XI protein. However, regardless of the severity of the protein deficiency, most affected individuals have relatively mild bleeding problems, and some people with this disorder have few if any symptoms. The most common feature of factor XI deficiency is prolonged bleeding after trauma or surgery, especially involving the inside of the mouth and nose (<a class="image-modal" data-alt="Anatomy of the pharynx (throat). The three parts of the pharynx are the nasopharynx, oropharynx, and hypopharynx." data-caption="Anatomy of the pharynx (throat). The three parts of the pharynx are the nasopharynx, oropharynx, and hypopharynx." data-credit="© 2012 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX00026R_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00026R" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9254" data-title="Upper respiratory tract, pharynx" href="https://medlineplus.gov/images/PX00026R_PRESENTATION.jpeg" id="PX00026R_1" title="Show image">oral and nasal cavities<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) or the <a class="image-modal" data-alt="Anatomy of the male urinary system (left panel) and female urinary system (right panel) showing the kidneys, ureters, bladder, and urethra." data-caption="Anatomy of the male urinary system (left panel) and female urinary system (right panel) showing the kidneys, ureters, bladder, and urethra. Urine is made in the renal tubules and collects in the renal pelvis of each kidney. The urine flows from the kidneys through the ureters to the bladder. The urine is stored in the bladder until it leaves the body through the urethra." data-credit="© 2010 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001VY_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001VY" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9754" data-title="Male and female urinary system" href="https://medlineplus.gov/images/PX0001VY_PRESENTATION.jpeg" id="PX0001VY_2" title="Show image">urinary tract<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. If the bleeding is left untreated after surgery, solid swellings consisting of congealed blood (hematomas) can develop in the surgical area.</p><p>Other signs and symptoms of this disorder can include frequent nosebleeds, easy bruising, bleeding under the skin, and bleeding of the gums. Women with this disorder can have heavy or prolonged menstrual bleeding (menorrhagia) or prolonged bleeding after childbirth. In contrast to some other bleeding disorders, spontaneous bleeding into the urine (hematuria), gastrointestinal tract, or skull cavity are not common in factor XI deficiency, although they can occur in severely affected individuals. Bleeding into the muscles or joints, which can cause long-term disability in other bleeding disorders, generally does not occur in this condition.</p></div>
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<div class="mp-exp exp-full" data-bookmark="frequency">
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>Factor XI deficiency is estimated to affect approximately 1 in 1 million people worldwide. The severe deficiency disorder is much more common in people with central and eastern European (Ashkenazi) Jewish ancestry, occurring in about 1 in 450 individuals in that population. Researchers suggest that the actual prevalence of factor XI deficiency may be higher than reported, because mild cases of the disorder often do not come to medical attention.</p></div>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p>Most cases of factor XI deficiency are caused by mutations in the <i><a data-pid="19827" href="https://medlineplus.gov/genetics/gene/f11/">F11</a></i> gene, which provides instructions for making the factor XI protein. This protein plays a role in the coagulation cascade, which is a series of chemical reactions that forms <a class="image-modal" data-alt="Red blood cells and platelets normal flow through blood vessels. When there is an injury, activated plates and fibrin form a blood clot at the site of injury, blocking the flow of blood out of the vessel." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX0000RC_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000RC" data-sourceurl="" data-title="Blood clot formation" href="https://medlineplus.gov/images/PX0000RC_PRESENTATION.jpeg" id="PX0000RC_2" title="Show image">blood clots<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> in response to injury. After an injury, clots seal off blood vessels to stop bleeding and trigger blood vessel repair.</p><p>Mutations in the <i>F11</i> gene result in a shortage (deficiency) of functional factor XI. This deficiency impairs the coagulation cascade, slowing the process of blood clotting and leading to the bleeding problems associated with this disorder. The amount of functional factor XI remaining varies depending on the particular mutation and whether one or both copies of the <i>F11</i> gene in each cell have mutations. However, the severity of the bleeding problems in affected individuals does not necessarily correspond to the amount of factor XI in the bloodstream, and can vary even within the same family. Other genetic and environmental factors likely play a role in determining the severity of this condition.</p><p>Some cases of factor XI deficiency are not caused by <i>F11</i> gene mutations. In these cases, the condition is called acquired factor XI deficiency. It can be caused by other disorders such as conditions in which the immune system malfunctions and attacks the factor XI protein. Because factor XI is made primarily by cells in the <a class="image-modal" data-alt="The liver is in the upper abdomen near the stomach, intestines, gallbladder, and pancreas." data-caption="The liver is in the upper abdomen near the stomach, intestines, gallbladder, and pancreas. The liver has four lobes. Two lobes are on the front and two small lobes (not shown) are on the back of the liver." data-credit="© 2009 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001V1_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001V1" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9077" data-title="Liver" href="https://medlineplus.gov/images/PX0001V1_PRESENTATION.jpeg" id="PX0001V1_3" title="Show image">liver<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, acquired factor XI deficiency can also occur as the result of severe liver disease or receiving a transplanted liver from an affected individual. In addition, approximately 25 percent of people with another disorder called <a data-pid="14559" href="https://medlineplus.gov/genetics/condition/noonan-syndrome/">Noonan syndrome</a> have factor XI deficiency.</p></div>
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</section>
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<section>
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<div class="related-genes mp-exp exp-full">
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<h3>Learn more about the gene associated with Factor XI deficiency</h3>
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<ul class="relatedmp">
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<li><a href="https://medlineplus.gov/genetics/gene/f11/">F11</a></li>
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</ul>
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</div>
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||
</section>
|
||
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||
</div>
|
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<div class="mp-exp exp-full" data-bookmark="inheritance">
|
||
<h2>Inheritance</h2>
|
||
|
||
<section><div class="mp- mp-content"><p>Severe factor XI deficiency is passed down in an <a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means both copies of the <i><a data-pid="19827" href="https://medlineplus.gov/genetics/gene/f11/">F11</a></i> gene in each cell have mutations. The parents of these individuals each carry one copy of the mutated gene and have partial factor XI deficiency; they rarely show severe signs and symptoms of the condition.</p><p>In some families, this condition is inherited in an <a class="image-modal" data-alt="A parent with an autosomal dominant condition passes the altered gene to two affected children. Two other children do not receive the altered gene, and are unaffected." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00009C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00009C" data-sourceurl="" data-title="Autosomal dominant inheritance" href="https://medlineplus.gov/images/PX00009C_PRESENTATION.jpeg" id="PX00009C_3" title="Show image">autosomal dominant pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means one copy of the altered <i>F11</i> gene in each cell is sufficient to cause the disorder. In these cases, an affected person has one parent with the condition.</p><p>The acquired form of factor XI deficiency is not inherited and does not run in families.</p></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="synonyms">
|
||
<h2>Other Names for This Condition</h2>
|
||
|
||
<section>
|
||
<ul class="bulletlist">
|
||
<li>F11 deficiency</li> <li>Factor 11 deficiency</li> <li>Haemophilia C</li> <li>Hemophilia C</li> <li>Plasma thromboplastin antecedent deficiency</li> <li>PTA deficiency</li> <li>Rosenthal factor deficiency</li> <li>Rosenthal syndrome</li> <li>Rosenthal's disease</li>
|
||
</ul>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="resources">
|
||
<h2>Additional Information & Resources</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Genetic Testing Information</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0015523/" target="TheNewWin">Genetic Testing Registry: Hereditary factor XI deficiency disease</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Genetic and Rare Diseases Information Center</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.info.nih.gov/diseases/9670/index" target="TheNewWin">Congenital factor XI deficiency</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Patient Support and Advocacy Resources</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Clinical Trials</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://clinicaltrials.gov/search?cond=%22Factor XI deficiency%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/612416" target="TheNewWin">FACTOR XI DEFICIENCY</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28Factor+XI+Deficiency%5BMAJR%5D%29+AND+%28factor+XI+deficiency%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1800+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="references">
|
||
<h2>References</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<ul>
|
||
|
||
<li>Duga S, Salomon O. Congenital factor XI deficiency: an update. Semin Thromb
|
||
Hemost. 2013 Sep;39(6):621-31. doi: 10.1055/s-0033-1353420. Epub 2013 Aug 8.
|
||
<a href="https://pubmed.ncbi.nlm.nih.gov/23929304" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Duga S, Salomon O. Factor XI Deficiency. Semin Thromb Hemost. 2009
|
||
Jun;35(4):416-25. doi: 10.1055/s-0029-1225764. Epub 2009 Jul 13. <a href="https://pubmed.ncbi.nlm.nih.gov/19598070" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Emsley J, McEwan PA, Gailani D. Structure and function of factor XI. Blood.
|
||
2010 Apr 1;115(13):2569-77. doi: 10.1182/blood-2009-09-199182. Epub 2010 Jan 28. <a href="https://pubmed.ncbi.nlm.nih.gov/20110423" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828079/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Gomez K, Bolton-Maggs P. Factor XI deficiency. Haemophilia. 2008
|
||
Nov;14(6):1183-9. doi: 10.1111/j.1365-2516.2008.01667.x. Epub 2008 Feb 27. <a href="https://pubmed.ncbi.nlm.nih.gov/18312365" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>He R, Chen D, He S. Factor XI: hemostasis, thrombosis, and antithrombosis.
|
||
Thromb Res. 2012 May;129(5):541-50. doi: 10.1016/j.thromres.2011.11.051. Epub
|
||
2011 Dec 22. <a href="https://pubmed.ncbi.nlm.nih.gov/22197449" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Puy C, Rigg RA, McCarty OJ. The hemostatic role of factor XI. Thromb Res. 2016
|
||
May;141 Suppl 2(Suppl 2):S8-S11. doi: 10.1016/S0049-3848(16)30354-1. <a href="https://pubmed.ncbi.nlm.nih.gov/27207433" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Wheeler AP, Gailani D. Why factor XI deficiency is a clinical concern. Expert
|
||
Rev Hematol. 2016 Jul;9(7):629-37. doi: 10.1080/17474086.2016.1191944. Epub 2016
|
||
Jun 24. <a href="https://pubmed.ncbi.nlm.nih.gov/27216469" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4950943/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Yankol Y, Mecit N, Kanmaz T, Acarli K, Kalayoglu M. Acquired factor XI
|
||
deficiency: a rare complication after liver transplantation. Transplant Proc.
|
||
2015 Jan-Feb;47(1):179-81. doi: 10.1016/j.transproceed.2014.10.042. Epub 2015 Jan
|
||
14. <a href="https://pubmed.ncbi.nlm.nih.gov/25596963" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
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|
||
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