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Primary sclerosing cholangitis(PSC)

MedGen UID:
107565
Concept ID:
C0566602
Disease or Syndrome
Synonyms: PSC; Sclerosing cholangitis
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Sources: HPO, Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Primary sclerosing cholangitis (197441003); PSC - Primary sclerosing cholangitis (197441003)
 
Cytogenetic location: 3p21
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 GHR
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://ghr.nlm.nih.gov/condition/primary-sclerosing-cholangitis

Clinical features

Biliary cirrhosis
MedGen UID:
44182
Concept ID:
C0023892
Disease or Syndrome
Cirrhosis of the liver caused either by destruction of the intrahepatic bile ducts (primary biliary cirrhosis) or blockage of the extrahepatic bile ducts (secondary biliary cirrhosis).

Term Hierarchy

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

Recent clinical studies

Etiology

Vannas MJ, Boyd S, Färkkilä MA, Arola J, Isoniemi H
Liver Int 2017 May;37(5):735-742. Epub 2016 Nov 7 doi: 10.1111/liv.13276. PMID: 28453918
Vesterhus M, Holm A, Hov JR, Nygård S, Schrumpf E, Melum E, Thorbjørnsen LW, Paulsen V, Lundin K, Dale I, Gilja OH, Zweers SJLB, Vatn M, Schaap FG, Jansen PLM, Ueland T, Røsjø H, Moum B, Ponsioen CY, Boberg KM, Färkkilä M, Karlsen TH, Lund-Johansen F
J Hepatol 2017 Jun;66(6):1214-1222. Epub 2017 Feb 2 doi: 10.1016/j.jhep.2017.01.019. PMID: 28161472
Horsley-Silva JL, Carey EJ, Lindor KD
Lancet Gastroenterol Hepatol 2016 Sep;1(1):68-77. Epub 2016 Aug 10 doi: 10.1016/S2468-1253(16)30010-3. PMID: 28404115
Laish I, Katz H, Stein A, Liberman M, Naftali T, Kitay-Cohen Y, Biron-Shental T, Konikoff FM, Amiel A
Dig Liver Dis 2015 Sep;47(9):790-6. Epub 2015 May 13 doi: 10.1016/j.dld.2015.05.002. PMID: 26048252
Lindström L, Lapidus A, Ost A, Bergquist A
Dis Colon Rectum 2011 Nov;54(11):1392-7. doi: 10.1097/DCR.0b013e31822bbcc1. PMID: 21979184

Diagnosis

Fagundes EDT, Ferreira AR, Hosken CC, Queiroz TCN
Arq Gastroenterol 2017 Dec;54(4):286-291. Epub 2017 Oct 2 doi: 10.1590/S0004-2803.201700000-50. PMID: 28977113
Vannas MJ, Boyd S, Färkkilä MA, Arola J, Isoniemi H
Liver Int 2017 May;37(5):735-742. Epub 2016 Nov 7 doi: 10.1111/liv.13276. PMID: 28453918
Vesterhus M, Holm A, Hov JR, Nygård S, Schrumpf E, Melum E, Thorbjørnsen LW, Paulsen V, Lundin K, Dale I, Gilja OH, Zweers SJLB, Vatn M, Schaap FG, Jansen PLM, Ueland T, Røsjø H, Moum B, Ponsioen CY, Boberg KM, Färkkilä M, Karlsen TH, Lund-Johansen F
J Hepatol 2017 Jun;66(6):1214-1222. Epub 2017 Feb 2 doi: 10.1016/j.jhep.2017.01.019. PMID: 28161472
Powell A, McNeil J
J Med Case Rep 2015 Nov 25;9:272. doi: 10.1186/s13256-015-0747-9. PMID: 26607041Free PMC Article
Lindström L, Lapidus A, Ost A, Bergquist A
Dis Colon Rectum 2011 Nov;54(11):1392-7. doi: 10.1097/DCR.0b013e31822bbcc1. PMID: 21979184

Therapy

Horsley-Silva JL, Carey EJ, Lindor KD
Lancet Gastroenterol Hepatol 2016 Sep;1(1):68-77. Epub 2016 Aug 10 doi: 10.1016/S2468-1253(16)30010-3. PMID: 28404115
Del Ross T, Ruffatti A, Floreani A, Hoxha A, Punzi L
BMC Musculoskelet Disord 2016 Nov 22;17(1):485. doi: 10.1186/s12891-016-1335-x. PMID: 27876037Free PMC Article
Hilscher M, Enders FB, Carey EJ, Lindor KD, Tabibian JH
Ann Hepatol 2016 Mar-Apr;15(2):246-53. doi: 10.5604/16652681.1193721. PMID: 26845602
Laish I, Katz H, Stein A, Liberman M, Naftali T, Kitay-Cohen Y, Biron-Shental T, Konikoff FM, Amiel A
Dig Liver Dis 2015 Sep;47(9):790-6. Epub 2015 May 13 doi: 10.1016/j.dld.2015.05.002. PMID: 26048252
Floreani A, Motta R, Cazzagon N, Franceschet I, Roncalli M, Del Ross T, Rosina F, Lleo A, Mescoli C, Colloredo G, Invernizzi P
Dig Liver Dis 2015 May;47(5):432-5. Epub 2015 Feb 11 doi: 10.1016/j.dld.2015.02.002. PMID: 25747115

Prognosis

Fagundes EDT, Ferreira AR, Hosken CC, Queiroz TCN
Arq Gastroenterol 2017 Dec;54(4):286-291. Epub 2017 Oct 2 doi: 10.1590/S0004-2803.201700000-50. PMID: 28977113
Vannas MJ, Boyd S, Färkkilä MA, Arola J, Isoniemi H
Liver Int 2017 May;37(5):735-742. Epub 2016 Nov 7 doi: 10.1111/liv.13276. PMID: 28453918
Vesterhus M, Holm A, Hov JR, Nygård S, Schrumpf E, Melum E, Thorbjørnsen LW, Paulsen V, Lundin K, Dale I, Gilja OH, Zweers SJLB, Vatn M, Schaap FG, Jansen PLM, Ueland T, Røsjø H, Moum B, Ponsioen CY, Boberg KM, Färkkilä M, Karlsen TH, Lund-Johansen F
J Hepatol 2017 Jun;66(6):1214-1222. Epub 2017 Feb 2 doi: 10.1016/j.jhep.2017.01.019. PMID: 28161472
Horsley-Silva JL, Carey EJ, Lindor KD
Lancet Gastroenterol Hepatol 2016 Sep;1(1):68-77. Epub 2016 Aug 10 doi: 10.1016/S2468-1253(16)30010-3. PMID: 28404115
Miyagawa-Hayashino A, Egawa H, Yoshizawa A, Ueda Y, Ichida T, Ueno Y, Uemoto S, Harada K, Nakanuma Y
Hum Pathol 2011 Sep;42(9):1329-36. Epub 2011 Feb 21 doi: 10.1016/j.humpath.2010.01.029. PMID: 21334714

Clinical prediction guides

Fagundes EDT, Ferreira AR, Hosken CC, Queiroz TCN
Arq Gastroenterol 2017 Dec;54(4):286-291. Epub 2017 Oct 2 doi: 10.1590/S0004-2803.201700000-50. PMID: 28977113
Vannas MJ, Boyd S, Färkkilä MA, Arola J, Isoniemi H
Liver Int 2017 May;37(5):735-742. Epub 2016 Nov 7 doi: 10.1111/liv.13276. PMID: 28453918
Vesterhus M, Holm A, Hov JR, Nygård S, Schrumpf E, Melum E, Thorbjørnsen LW, Paulsen V, Lundin K, Dale I, Gilja OH, Zweers SJLB, Vatn M, Schaap FG, Jansen PLM, Ueland T, Røsjø H, Moum B, Ponsioen CY, Boberg KM, Färkkilä M, Karlsen TH, Lund-Johansen F
J Hepatol 2017 Jun;66(6):1214-1222. Epub 2017 Feb 2 doi: 10.1016/j.jhep.2017.01.019. PMID: 28161472
Laish I, Katz H, Stein A, Liberman M, Naftali T, Kitay-Cohen Y, Biron-Shental T, Konikoff FM, Amiel A
Dig Liver Dis 2015 Sep;47(9):790-6. Epub 2015 May 13 doi: 10.1016/j.dld.2015.05.002. PMID: 26048252
de Vries AB, Janse M, Blokzijl H, Weersma RK
World J Gastroenterol 2015 Feb 14;21(6):1956-71. doi: 10.3748/wjg.v21.i6.1956. PMID: 25684965Free PMC Article

Recent systematic reviews

Barkin JA, Levy C, Souto EO
Ann Hepatol 2017 November-December,;16(6):842-850. doi: 10.5604/01.3001.0010.5274. PMID: 29055922
Peng X, Luo X, Hou JY, Wu SY, Li LZ, Zheng MH, Wang LY
Dig Dis 2017;35(5):478-485. Epub 2017 May 6 doi: 10.1159/000471874. PMID: 28478443
Njei B, McCarty TR, Varadarajulu S, Navaneethan U
Aliment Pharmacol Ther 2016 Dec;44(11-12):1139-1151. Epub 2016 Oct 3 doi: 10.1111/apt.13817. PMID: 27696456
Zhu GQ, Shi KQ, Huang GQ, Wang LR, Lin YQ, Braddock M, Chen YP, Zhou MT, Zheng MH
Oncotarget 2015 Sep 29;6(29):26757-69. doi: 10.18632/oncotarget.5610. PMID: 26378046Free PMC Article
Giljaca V, Poropat G, Stimac D, Gluud C
Cochrane Database Syst Rev 2010 Jan 20;(1):CD004036. doi: 10.1002/14651858.CD004036.pub3. PMID: 20091555

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