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<span>Primary sclerosing cholangitis</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/primary-sclerosing-cholangitis/</span>
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<h1>Primary sclerosing cholangitis</h1>
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<h2>Description</h2>
<section><div class="mp-content"><p>Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to <a class="image-modal" data-alt="The gallbladder is located in the abdomen just below the liver." data-caption="Anatomy of the gallbladder. The gallbladder is just below the liver. Bile is stored in the gallbladder and flows through the cystic duct and the common bile duct into the small intestine when food is being digested." data-credit="© 2010 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001U6_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001U6" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9078" data-title="Gallbladder" href="https://medlineplus.gov/images/PX0001U6_PRESENTATION.jpeg" id="PX0001U6_1" title="Show image">the gallbladder<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, where it is stored, and to <a class="image-modal" data-alt="Anatomy of the lower digestive system, showing the colon, small intestine, rectum, and other organs." data-caption="Anatomy of the lower digestive system, showing the colon and other organs." data-credit="© 2011 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001VQ_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001VQ" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=7179" data-title="Lower gastrointestinal tract" href="https://medlineplus.gov/images/PX0001VQ_PRESENTATION.jpeg" id="PX0001VQ_2" title="Show image">the small intestine<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, where it aids in digestion. Primary sclerosing cholangitis occurs because of inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis) and narrowing of the ducts. As a result, bile cannot be released to the gallbladder and small intestine, and it builds up in <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">the liver<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>.</p><p>Primary sclerosing cholangitis is usually diagnosed around age 40, and for unknown reasons, it affects men twice as often as women. Many people have no signs or symptoms of the condition when they are diagnosed, but routine blood tests reveal liver problems. When apparent, the earliest signs and symptoms of primary sclerosing cholangitis include extreme tiredness (fatigue), discomfort in the abdomen, and severe itchiness (pruritus). As the condition worsens, affected individuals may develop yellowing of the skin and whites of the eyes (jaundice) and an enlarged spleen (splenomegaly). Eventually, the buildup of bile damages the liver cells, causing chronic liver disease (cirrhosis) and liver failure. Without bile available to digest them, fats pass through the body. As a result, weight loss and shortages of vitamins that are absorbed with and stored in fats (fat-soluble vitamins) can occur. A fat-soluble vitamin called vitamin D helps absorb calcium and helps bones harden, and lack of this vitamin can cause thinning of the bones (<a class="image-modal" data-alt="The inside of normal bone versus bone with osteoporosis. The bone with osteoporosis has larger empty spaces in the tissue." data-caption="" data-credit="Tefi/Shutterstock.com" data-filepath="images/PX0000U8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000U8" data-sourceurl="" data-title="Osteoporosis" href="https://medlineplus.gov/images/PX0000U8_PRESENTATION.jpeg" id="PX0000U8_4" title="Show image">osteoporosis<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) in people with primary sclerosing cholangitis.</p><p>Primary sclerosing cholangitis is often associated with another condition called inflammatory bowel disease, which is characterized by inflammation of the intestines that causes open sores (ulcers) in the intestines and abdominal pain. However, the reason for this link is unclear. Approximately 70 percent of people with primary sclerosing cholangitis have inflammatory bowel disease, most commonly a form of the condition known as <a data-pid="15967" href="https://medlineplus.gov/genetics/condition/ulcerative-colitis/">ulcerative colitis</a>. In addition, people with primary sclerosing cholangitis are more likely to have an autoimmune disorder, such as <a data-pid="16043" href="https://medlineplus.gov/genetics/condition/type-1-diabetes/">type 1 diabetes</a>, <a data-pid="15719" href="https://medlineplus.gov/genetics/condition/celiac-disease/">celiac disease</a>, or thyroid disease, than people without the condition. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. People with primary sclerosing cholangitis also have an increased risk of developing cancer, particularly cancer of the bile ducts (<a data-pid="16639" href="https://medlineplus.gov/genetics/condition/cholangiocarcinoma/">cholangiocarcinoma</a>).</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>An estimated 1 in 10,000 people have primary sclerosing cholangitis, and the condition is diagnosed in approximately 1 in 100,000 people per year worldwide.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Primary sclerosing cholangitis is thought to arise from a combination of genetic and environmental factors. Researchers believe that genetic changes play a role in this condition because it often occurs in several members of a family and because immediate family members of someone with primary sclerosing cholangitis have an increased risk of developing the condition. It is likely that specific genetic variations increase a person's risk of developing primary sclerosing cholangitis, and then exposure to certain environmental factors triggers the disorder. However, the genetic changes that increase susceptibility and the environmental triggers remain unclear.</p><p>There is evidence that variations in certain genes involved in immune function influence the risk of developing primary sclerosing cholangitis. The most commonly associated genes belong to a family of genes called the <a class="image-modal" data-alt="Human chromosome 6 with amplification of the human lymphocyte antigen (HLA) region. The locations of specific HLA loci for the class I B, C and A alleles and the class II DP, DQ, and DR alleles are shown." data-caption="Human chromosome 6 with amplification of the human lymphocyte antigen (HLA) region. The locations of specific HLA loci for the class I B, C and A alleles and the class II DP, DQ, and DR alleles are shown." data-credit="© 2012 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001UL_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001UL" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=10431" data-title="HLA complex" href="https://medlineplus.gov/images/PX0001UL_PRESENTATION.jpeg" id="PX0001UL_1" title="Show image">human leukocyte antigen (HLA) complex<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Specific variations of several HLA genes seem to be present more often in people with primary sclerosing cholangitis than in people who do not have the disorder. These variations may dysregulate the body's immune response, leading to the inflammation of the bile ducts in people with primary sclerosing cholangitis. However, the mechanism is not well understood. Researchers are also studying variations in other genes related to the body's immune function to understand how they contribute to the risk of developing this condition.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>The inheritance pattern of primary sclerosing cholangitis is unknown because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having an affected family member is a risk factor for developing the disease.</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>PSC</li> <li>Sclerosing cholangitis</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/C0566602/" target="TheNewWin">Genetic Testing Registry: Primary sclerosing cholangitis</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/1280/index" target="TheNewWin">Primary sclerosing cholangitis</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=%22Primary sclerosing cholangitis%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/613806" target="TheNewWin">CHOLANGITIS, PRIMARY SCLEROSING; PSC</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=%28Cholangitis,+Sclerosing%5BMAJR%5D%29+AND+%28primary+sclerosing+cholangitis%5BTI%5D%29+AND+review%5Bpt%5D+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1440+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>Bergquist A, Lindberg G, Saarinen S, Broome U. Increased prevalence of primary
sclerosing cholangitis among first-degree relatives. J Hepatol. 2005
Feb;42(2):252-6. doi: 10.1016/j.jhep.2004.10.011. <a href="https://pubmed.ncbi.nlm.nih.gov/15664252" target="TheNewWin">Citation on PubMed</a></li>
<li>Friedrich K, Rupp C, Hov JR, Steinebrunner N, Weiss KH, Stiehl A, Brune M,
Schaefer PK, Schemmer P, Sauer P, Schirmacher P, Runz H, Karlsen TH, Stremmel W,
Gotthardt DN. A frequent PNPLA3 variant is a sex specific disease modifier in PSC
patients with bile duct stenosis. PLoS One. 2013;8(3):e58734. doi:
10.1371/journal.pone.0058734. Epub 2013 Mar 7. <a href="https://pubmed.ncbi.nlm.nih.gov/23505555" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591368/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Karlsen TH, Franke A, Melum E, Kaser A, Hov JR, Balschun T, Lie BA, Bergquist
A, Schramm C, Weismuller TJ, Gotthardt D, Rust C, Philipp EE, Fritz T, Henckaerts
L, Weersma RK, Stokkers P, Ponsioen CY, Wijmenga C, Sterneck M, Nothnagel M,
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