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Primary biliary cirrhosis

MedGen UID:
3035
•Concept ID:
C0008312
•
Disease or Syndrome
Synonym: Familial primary biliary cirrhosis
SNOMED CT: Hanot's cirrhosis (31712002); Primary biliary cholangitis (31712002); Chronic nonsuppurative destructive cholangitis (1761006); Primary biliary cirrhosis (31712002)
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.
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Non-Mendelian inheritance (Orphanet)
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0005388
OMIM®: 109720
OMIM® Phenotypic series: PS109720
Orphanet: ORPHA186

Definition

Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996). Genetic Heterogeneity of Primary Biliary Cirrhosis Primary biliary cirrhosis-1 (PBC1) is significantly associated with SNPs at the IL12A locus (161560) on chromosome 3q25.33. Significant association of PBC has also been shown with SNPs at the HLA-DQB1 locus (604305) on chromosome 6p21.3 (PBC2; 613007), at the IL12RB2 locus (601642) on chromosome 1p31.2 (PBC3; 613008), at the IRF5 (607218)-TNPO3 (610032) locus on chromosome 7q32 (PBC4; 614220), and at the ZPBP2 locus (608499) on chromosome 17q12-q21 (PBC5; 614221). See also Reynolds syndrome (613471), in which primary biliary cirrhosis is a feature. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary biliary cirrhosis

Professional guidelines

PubMed

The British Society of Gastroenterology/UK-PBC primary biliary cholangitis treatment and management guidelines.
Hirschfield GM, Dyson JK, Alexander GJM, Chapman MH, Collier J, Hübscher S, Patanwala I, Pereira SP, Thain C, Thorburn D, Tiniakos D, Walmsley M, Webster G, Jones DEJ
Gut 2018 Sep;67(9):1568-1594. Epub 2018 Mar 28 doi: 10.1136/gutjnl-2017-315259. PMID: 29593060Free PMC Article
Cholestatic Itch Management.
Mittal A
Curr Probl Dermatol 2016;50:142-8. Epub 2016 Aug 23 doi: 10.1159/000446057. PMID: 27578083
Primary biliary cirrhosis.
Lindor KD, Gershwin ME, Poupon R, Kaplan M, Bergasa NV, Heathcote EJ; American Association for Study of Liver Diseases
Hepatology 2009 Jul;50(1):291-308. doi: 10.1002/hep.22906. PMID: 19554543

Recent clinical studies

Etiology

Imaging of autoimmune biliary disease.
Yeh MJ, Kim SY, Jhaveri KS, Behr SC, Seo N, Yeh BM
Abdom Radiol (NY) 2017 Jan;42(1):3-18. doi: 10.1007/s00261-016-0903-8. PMID: 27639563
Novel Therapies on Primary Biliary Cirrhosis.
Czul F, Levy C
Clin Liver Dis 2016 Feb;20(1):113-30. doi: 10.1016/j.cld.2015.08.006. PMID: 26593294
Primary biliary cirrhosis: Clinical and laboratory criteria for its diagnosis.
Reshetnyak VI
World J Gastroenterol 2015 Jul 7;21(25):7683-708. doi: 10.3748/wjg.v21.i25.7683. PMID: 26167070Free PMC Article
Women and primary biliary cirrhosis.
Sun Y, Haapanen K, Li B, Zhang W, Van de Water J, Gershwin ME
Clin Rev Allergy Immunol 2015 Jun;48(2-3):285-300. doi: 10.1007/s12016-014-8449-4. PMID: 25241227Free PMC Article
Methotrexate for primary biliary cirrhosis.
Giljaca V, Poropat G, Stimac D, Gluud C
Cochrane Database Syst Rev 2010 May 12;(5):CD004385. doi: 10.1002/14651858.CD004385.pub3. PMID: 20464729

Diagnosis

Primary biliary cirrhosis.
Carey EJ, Ali AH, Lindor KD
Lancet 2015 Oct 17;386(10003):1565-75. Epub 2015 Sep 11 doi: 10.1016/S0140-6736(15)00154-3. PMID: 26364546
The diagnosis of primary biliary cirrhosis.
Bowlus CL, Gershwin ME
Autoimmun Rev 2014 Apr-May;13(4-5):441-4. Epub 2014 Jan 11 doi: 10.1016/j.autrev.2014.01.041. PMID: 24424173Free PMC Article
Primary biliary cirrhosis.
Lindor KD, Gershwin ME, Poupon R, Kaplan M, Bergasa NV, Heathcote EJ; American Association for Study of Liver Diseases
Hepatology 2009 Jul;50(1):291-308. doi: 10.1002/hep.22906. PMID: 19554543
Primary biliary cirrhosis.
Talwalkar JA, Lindor KD
Lancet 2003 Jul 5;362(9377):53-61. doi: 10.1016/S0140-6736(03)13808-1. PMID: 12853201
Primary biliary cirrhosis.
Sherlock S
Am J Med 1978 Aug;65(2):217-9. doi: 10.1016/0002-9343(78)90810-0. PMID: 686006

Therapy

Primary biliary cholangitis: Old and novel therapy.
Floreani A, Mangini C
Eur J Intern Med 2018 Jan;47:1-5. Epub 2017 Jun 29 doi: 10.1016/j.ejim.2017.06.020. PMID: 28669591
Primary biliary cirrhosis.
Carey EJ, Ali AH, Lindor KD
Lancet 2015 Oct 17;386(10003):1565-75. Epub 2015 Sep 11 doi: 10.1016/S0140-6736(15)00154-3. PMID: 26364546
Autoimmune hepatitis.
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
Primary biliary cirrhosis and bile acids.
Corpechot C
Clin Res Hepatol Gastroenterol 2012 Sep;36 Suppl 1:S13-20. doi: 10.1016/S2210-7401(12)70016-5. PMID: 23141888
Primary biliary cirrhosis.
Hohenester S, Oude-Elferink RP, Beuers U
Semin Immunopathol 2009 Sep;31(3):283-307. Epub 2009 Jul 15 doi: 10.1007/s00281-009-0164-5. PMID: 19603170Free PMC Article

Prognosis

Recent advances in clinical practice: epidemiology of autoimmune liver diseases.
Trivedi PJ, Hirschfield GM
Gut 2021 Oct;70(10):1989-2003. Epub 2021 Jul 15 doi: 10.1136/gutjnl-2020-322362. PMID: 34266966
Incidence and risk factors for hepatocellular carcinoma in primary biliary cirrhosis.
Rong G, Wang H, Bowlus CL, Wang C, Lu Y, Zeng Z, Qu J, Lou M, Chen Y, An L, Yang Y, Gershwin ME
Clin Rev Allergy Immunol 2015 Jun;48(2-3):132-41. doi: 10.1007/s12016-015-8483-x. PMID: 25762349
Fibrates and cholestasis.
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
Ursodeoxycholic acid for primary biliary cirrhosis.
Rudic JS, Poropat G, Krstic MN, Bjelakovic G, Gluud C
Cochrane Database Syst Rev 2012 Dec 12;12(12):CD000551. doi: 10.1002/14651858.CD000551.pub3. PMID: 23235576Free PMC Article
Primary biliary cirrhosis and cancer risk: a systematic review and meta-analysis.
Liang Y, Yang Z, Zhong R
Hepatology 2012 Oct;56(4):1409-17. Epub 2012 Aug 27 doi: 10.1002/hep.25788. PMID: 22504852

Clinical prediction guides

The British Society of Gastroenterology/UK-PBC primary biliary cholangitis treatment and management guidelines.
Hirschfield GM, Dyson JK, Alexander GJM, Chapman MH, Collier J, Hübscher S, Patanwala I, Pereira SP, Thain C, Thorburn D, Tiniakos D, Walmsley M, Webster G, Jones DEJ
Gut 2018 Sep;67(9):1568-1594. Epub 2018 Mar 28 doi: 10.1136/gutjnl-2017-315259. PMID: 29593060Free PMC Article
Primary biliary cirrhosis: Clinical and laboratory criteria for its diagnosis.
Reshetnyak VI
World J Gastroenterol 2015 Jul 7;21(25):7683-708. doi: 10.3748/wjg.v21.i25.7683. PMID: 26167070Free PMC Article
Autoimmune hepatitis.
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
Non-invasive diagnosis of advanced fibrosis and cirrhosis.
Sharma S, Khalili K, Nguyen GC
World J Gastroenterol 2014 Dec 7;20(45):16820-30. doi: 10.3748/wjg.v20.i45.16820. PMID: 25492996Free PMC Article
Primary biliary cirrhosis.
Talwalkar JA, Lindor KD
Lancet 2003 Jul 5;362(9377):53-61. doi: 10.1016/S0140-6736(03)13808-1. PMID: 12853201

Recent systematic reviews

Systematic review and meta-analysis: bezafibrate in patients with primary biliary cirrhosis.
Yin Q, Li J, Xia Y, Zhang R, Wang J, Lu W, Zhou Y, Zheng Y, Abudumijiti H, Chen R, Chen K, Li S, Liu T, Wang F, Lu J, Zhou Y, Guo C
Drug Des Devel Ther 2015;9:5407-19. Epub 2015 Sep 30 doi: 10.2147/DDDT.S92041. PMID: 26491252Free PMC Article
The limitations and hidden gems of the epidemiology of primary biliary cirrhosis.
Podda M, Selmi C, Lleo A, Moroni L, Invernizzi P
J Autoimmun 2013 Oct;46:81-7. Epub 2013 Jul 17 doi: 10.1016/j.jaut.2013.06.015. PMID: 23871640
Primary biliary cirrhosis and cancer risk: a systematic review and meta-analysis.
Liang Y, Yang Z, Zhong R
Hepatology 2012 Oct;56(4):1409-17. Epub 2012 Aug 27 doi: 10.1002/hep.25788. PMID: 22504852
Epidemiology of primary sclerosing cholangitis and primary biliary cirrhosis: a systematic review.
Boonstra K, Beuers U, Ponsioen CY
J Hepatol 2012 May;56(5):1181-1188. Epub 2012 Jan 13 doi: 10.1016/j.jhep.2011.10.025. PMID: 22245904
URSO-panacea or placebo?
Neuberger J
Hepatology 2000 Apr;31(4):1027-8. doi: 10.1002/hep.510310431. PMID: 10733564

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