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Primary sclerosing cholangitis(PSC)

MedGen UID:
107565
Concept ID:
C0566602
Disease or Syndrome
Synonym: PSC
SNOMED CT: Primary sclerosing cholangitis (197441003); PSC - Primary sclerosing cholangitis (197441003)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
 
Monarch Initiative: MONDO:0013433
OMIM®: 613806
Orphanet: ORPHA171

Definition

Primary sclerosing cholangitis (PSC) is a slowly progressive cholestatic liver disease characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. It is a major indication for liver transplantation (Sheth et al., 2003). Approximately 75 to 80% of PSC cases are associated with inflammatory bowel disease (IBD; see 266600), and 2.5 to 7.5% of patients with IBD develop PSC (Lee and Kaplan, 1995). [from OMIM]

Additional description

From MedlinePlus Genetics
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 the gallbladder, where it is stored, and to the small intestine, 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 the liver.

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 (osteoporosis) in people with primary sclerosing cholangitis.

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 ulcerative colitis. In addition, people with primary sclerosing cholangitis are more likely to have an autoimmune disorder, such as type 1 diabetes, celiac disease, 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 (cholangiocarcinoma).  https://medlineplus.gov/genetics/condition/primary-sclerosing-cholangitis

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary sclerosing cholangitis
Follow this link to review classifications for Primary sclerosing cholangitis in Orphanet.

Professional guidelines

PubMed

Rogler G, Singh A, Kavanaugh A, Rubin DT
Gastroenterology 2021 Oct;161(4):1118-1132. Epub 2021 Aug 3 doi: 10.1053/j.gastro.2021.07.042. PMID: 34358489Free PMC Article
Kwo PY, Cohen SM, Lim JK
Am J Gastroenterol 2017 Jan;112(1):18-35. Epub 2016 Dec 20 doi: 10.1038/ajg.2016.517. PMID: 27995906
Rizvi S, Gores GJ
Gastroenterology 2013 Dec;145(6):1215-29. Epub 2013 Oct 15 doi: 10.1053/j.gastro.2013.10.013. PMID: 24140396Free PMC Article

Recent clinical studies

Etiology

Assis DN, Bowlus CL
Clin Gastroenterol Hepatol 2023 Jul;21(8):2065-2075. Epub 2023 Apr 19 doi: 10.1016/j.cgh.2023.04.004. PMID: 37084929
Barberio B, Massimi D, Cazzagon N, Zingone F, Ford AC, Savarino EV
Gastroenterology 2021 Dec;161(6):1865-1877. Epub 2021 Aug 20 doi: 10.1053/j.gastro.2021.08.032. PMID: 34425093
Prokopič M, Beuers U
Hepatol Int 2021 Feb;15(1):6-20. Epub 2020 Dec 30 doi: 10.1007/s12072-020-10118-x. PMID: 33377990Free PMC Article
Dyson JK, Beuers U, Jones DEJ, Lohse AW, Hudson M
Lancet 2018 Jun 23;391(10139):2547-2559. Epub 2018 Feb 13 doi: 10.1016/S0140-6736(18)30300-3. PMID: 29452711
Karlsen TH, Folseraas T, Thorburn D, Vesterhus M
J Hepatol 2017 Dec;67(6):1298-1323. Epub 2017 Aug 10 doi: 10.1016/j.jhep.2017.07.022. PMID: 28802875

Diagnosis

Assis DN, Bowlus CL
Clin Gastroenterol Hepatol 2023 Jul;21(8):2065-2075. Epub 2023 Apr 19 doi: 10.1016/j.cgh.2023.04.004. PMID: 37084929
Prokopič M, Beuers U
Hepatol Int 2021 Feb;15(1):6-20. Epub 2020 Dec 30 doi: 10.1007/s12072-020-10118-x. PMID: 33377990Free PMC Article
Kawaguchi T, Arinaga-Hino T, Morishige S, Mizuochi S, Abe M, Kunitake K, Sano T, Amano K, Kuwahara R, Ide T, Nagafuji K, Torimura T
Clin J Gastroenterol 2021 Feb;14(1):330-335. Epub 2020 Oct 10 doi: 10.1007/s12328-020-01256-8. PMID: 33038000
Dyson JK, Beuers U, Jones DEJ, Lohse AW, Hudson M
Lancet 2018 Jun 23;391(10139):2547-2559. Epub 2018 Feb 13 doi: 10.1016/S0140-6736(18)30300-3. PMID: 29452711
Karlsen TH, Folseraas T, Thorburn D, Vesterhus M
J Hepatol 2017 Dec;67(6):1298-1323. Epub 2017 Aug 10 doi: 10.1016/j.jhep.2017.07.022. PMID: 28802875

Therapy

O'Brien C, Malik M, Jhaveri K
Radiol Clin North Am 2022 Sep;60(5):843-856. Epub 2022 Jul 8 doi: 10.1016/j.rcl.2022.05.007. PMID: 35989048
Rogler G, Singh A, Kavanaugh A, Rubin DT
Gastroenterology 2021 Oct;161(4):1118-1132. Epub 2021 Aug 3 doi: 10.1053/j.gastro.2021.07.042. PMID: 34358489Free PMC Article
Kawaguchi T, Arinaga-Hino T, Morishige S, Mizuochi S, Abe M, Kunitake K, Sano T, Amano K, Kuwahara R, Ide T, Nagafuji K, Torimura T
Clin J Gastroenterol 2021 Feb;14(1):330-335. Epub 2020 Oct 10 doi: 10.1007/s12328-020-01256-8. PMID: 33038000
Yokoda RT, Carey EJ
Am J Gastroenterol 2019 Oct;114(10):1593-1605. doi: 10.14309/ajg.0000000000000268. PMID: 31169523
Sahebjam F, Vierling JM
Front Med 2015 Jun;9(2):187-219. Epub 2015 Mar 6 doi: 10.1007/s11684-015-0386-y. PMID: 25749982

Prognosis

Foley KG, Lahaye MJ, Thoeni RF, Soltes M, Dewhurst C, Barbu ST, Vashist YK, Rafaelsen SR, Arvanitakis M, Perinel J, Wiles R, Roberts SA
Eur Radiol 2022 May;32(5):3358-3368. Epub 2021 Dec 17 doi: 10.1007/s00330-021-08384-w. PMID: 34918177Free PMC Article
Trivedi PJ, Hirschfield GM
Gut 2021 Oct;70(10):1989-2003. Epub 2021 Jul 15 doi: 10.1136/gutjnl-2020-322362. PMID: 34266966
Bergquist A, von Seth E
Best Pract Res Clin Gastroenterol 2015 Apr;29(2):221-32. Epub 2015 Feb 16 doi: 10.1016/j.bpg.2015.02.003. PMID: 25966423
Ghonem NS, Assis DN, Boyer JL
Hepatology 2015 Aug;62(2):635-43. Epub 2015 Mar 23 doi: 10.1002/hep.27744. PMID: 25678132Free PMC Article
Rizvi S, Gores GJ
Gastroenterology 2013 Dec;145(6):1215-29. Epub 2013 Oct 15 doi: 10.1053/j.gastro.2013.10.013. PMID: 24140396Free PMC Article

Clinical prediction guides

Rogler G, Singh A, Kavanaugh A, Rubin DT
Gastroenterology 2021 Oct;161(4):1118-1132. Epub 2021 Aug 3 doi: 10.1053/j.gastro.2021.07.042. PMID: 34358489Free PMC Article
Sarcognato S, Sacchi D, Grillo F, Cazzagon N, Fabris L, Cadamuro M, Cataldo I, Covelli C, Mangia A, Guido M
Pathologica 2021 Jun;113(3):170-184. doi: 10.32074/1591-951X-245. PMID: 34294935Free PMC Article
Prokopič M, Beuers U
Hepatol Int 2021 Feb;15(1):6-20. Epub 2020 Dec 30 doi: 10.1007/s12072-020-10118-x. PMID: 33377990Free PMC Article
Kawaguchi T, Arinaga-Hino T, Morishige S, Mizuochi S, Abe M, Kunitake K, Sano T, Amano K, Kuwahara R, Ide T, Nagafuji K, Torimura T
Clin J Gastroenterol 2021 Feb;14(1):330-335. Epub 2020 Oct 10 doi: 10.1007/s12328-020-01256-8. PMID: 33038000
Yashiro M
World J Gastroenterol 2014 Nov 28;20(44):16389-97. doi: 10.3748/wjg.v20.i44.16389. PMID: 25469007Free PMC Article

Recent systematic reviews

Smith HT, de Souza AR, Thompson AH, McLaughlin MM, Dever JJ, Myers JA, Chen JV
Dig Dis Sci 2023 Jun;68(6):2710-2730. Epub 2023 Mar 18 doi: 10.1007/s10620-023-07862-z. PMID: 36933112Free PMC Article
Bogatic D, Bryant RV, Lynch KD, Costello SP
Aliment Pharmacol Ther 2023 Jan;57(1):23-36. Epub 2022 Nov 2 doi: 10.1111/apt.17251. PMID: 36324251Free PMC Article
Trivedi PJ, Bowlus CL, Yimam KK, Razavi H, Estes C
Clin Gastroenterol Hepatol 2022 Aug;20(8):1687-1700.e4. Epub 2021 Aug 30 doi: 10.1016/j.cgh.2021.08.039. PMID: 34474162
Barberio B, Massimi D, Cazzagon N, Zingone F, Ford AC, Savarino EV
Gastroenterology 2021 Dec;161(6):1865-1877. Epub 2021 Aug 20 doi: 10.1053/j.gastro.2021.08.032. PMID: 34425093
Wijnands AM, de Jong ME, Lutgens MWMD, Hoentjen F, Elias SG, Oldenburg B; Dutch Initiative on Crohn and Colitis (ICC)
Gastroenterology 2021 Apr;160(5):1584-1598. Epub 2020 Dec 29 doi: 10.1053/j.gastro.2020.12.036. PMID: 33385426

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