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Primary biliary cholangitis

MedGen UID:
3035
•Concept ID:
C0008312
•
Disease or Syndrome
Synonyms: Familial primary biliary cirrhosis; 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 cholangitis

Professional guidelines

PubMed

Primary biliary cholangitis: Epidemiology, prognosis, and treatment.
Trivella J, John BV, Levy C
Hepatol Commun 2023 Jun 1;7(6) Epub 2023 Jun 2 doi: 10.1097/HC9.0000000000000179. PMID: 37267215Free PMC Article
New Treatment Paradigms in Primary Biliary Cholangitis.
Levy C, Manns M, Hirschfield G
Clin Gastroenterol Hepatol 2023 Jul;21(8):2076-2087. Epub 2023 Feb 19 doi: 10.1016/j.cgh.2023.02.005. PMID: 36809835
ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries.
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

Recent clinical studies

Etiology

Primary biliary cholangitis.
Tanaka A, Ma X, Takahashi A, Vierling JM
Lancet 2024 Sep 14;404(10457):1053-1066. Epub 2024 Aug 28 doi: 10.1016/S0140-6736(24)01303-5. PMID: 39216494
New Treatment Paradigms in Primary Biliary Cholangitis.
Levy C, Manns M, Hirschfield G
Clin Gastroenterol Hepatol 2023 Jul;21(8):2076-2087. Epub 2023 Feb 19 doi: 10.1016/j.cgh.2023.02.005. PMID: 36809835
Primary biliary cholangitis.
Lleo A, Wang GQ, Gershwin ME, Hirschfield GM
Lancet 2020 Dec 12;396(10266):1915-1926. doi: 10.1016/S0140-6736(20)31607-X. PMID: 33308474
Diagnosis and Management of Primary Biliary Cholangitis.
Younossi ZM, Bernstein D, Shiffman ML, Kwo P, Kim WR, Kowdley KV, Jacobson IM
Am J Gastroenterol 2019 Jan;114(1):48-63. doi: 10.1038/s41395-018-0390-3. PMID: 30429590
EASL Clinical Practice Guidelines: The diagnosis and management of patients with primary biliary cholangitis.
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2017 Jul;67(1):145-172. Epub 2017 Apr 18 doi: 10.1016/j.jhep.2017.03.022. PMID: 28427765

Diagnosis

Primary biliary cholangitis: Epidemiology, prognosis, and treatment.
Trivella J, John BV, Levy C
Hepatol Commun 2023 Jun 1;7(6) Epub 2023 Jun 2 doi: 10.1097/HC9.0000000000000179. PMID: 37267215Free PMC Article
New Treatment Paradigms in Primary Biliary Cholangitis.
Levy C, Manns M, Hirschfield G
Clin Gastroenterol Hepatol 2023 Jul;21(8):2076-2087. Epub 2023 Feb 19 doi: 10.1016/j.cgh.2023.02.005. PMID: 36809835
Autoimmune biliary diseases: primary biliary cholangitis and primary sclerosing cholangitis.
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
Current understanding of primary biliary cholangitis.
Tanaka A
Clin Mol Hepatol 2021 Jan;27(1):1-21. Epub 2020 Dec 3 doi: 10.3350/cmh.2020.0028. PMID: 33264835Free PMC Article
EASL Clinical Practice Guidelines: The diagnosis and management of patients with primary biliary cholangitis.
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2017 Jul;67(1):145-172. Epub 2017 Apr 18 doi: 10.1016/j.jhep.2017.03.022. PMID: 28427765

Therapy

Efficacy and Safety of Elafibranor in Primary Biliary Cholangitis.
Kowdley KV, Bowlus CL, Levy C, Akarca US, Alvares-da-Silva MR, Andreone P, Arrese M, Corpechot C, Francque SM, Heneghan MA, Invernizzi P, Jones D, Kruger FC, Lawitz E, Mayo MJ, Shiffman ML, Swain MG, Valera JM, Vargas V, Vierling JM, Villamil A, Addy C, Dietrich J, Germain JM, Mazain S, Rafailovic D, Taddé B, Miller B, Shu J, Zein CO, Schattenberg JM; ELATIVE Study Investigators’ Group; ELATIVE Study Investigators' Group
N Engl J Med 2024 Feb 29;390(9):795-805. Epub 2023 Nov 13 doi: 10.1056/NEJMoa2306185. PMID: 37962077
Primary biliary cholangitis: Epidemiology, prognosis, and treatment.
Trivella J, John BV, Levy C
Hepatol Commun 2023 Jun 1;7(6) Epub 2023 Jun 2 doi: 10.1097/HC9.0000000000000179. PMID: 37267215Free PMC Article
New Treatment Paradigms in Primary Biliary Cholangitis.
Levy C, Manns M, Hirschfield G
Clin Gastroenterol Hepatol 2023 Jul;21(8):2076-2087. Epub 2023 Feb 19 doi: 10.1016/j.cgh.2023.02.005. PMID: 36809835
Primary biliary cholangitis.
Lleo A, Wang GQ, Gershwin ME, Hirschfield GM
Lancet 2020 Dec 12;396(10266):1915-1926. doi: 10.1016/S0140-6736(20)31607-X. PMID: 33308474
EASL Clinical Practice Guidelines: The diagnosis and management of patients with primary biliary cholangitis.
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2017 Jul;67(1):145-172. Epub 2017 Apr 18 doi: 10.1016/j.jhep.2017.03.022. PMID: 28427765

Prognosis

Epidemiology of small intestinal bacterial overgrowth.
Efremova I, Maslennikov R, Poluektova E, Vasilieva E, Zharikov Y, Suslov A, Letyagina Y, Kozlov E, Levshina A, Ivashkin V
World J Gastroenterol 2023 Jun 14;29(22):3400-3421. doi: 10.3748/wjg.v29.i22.3400. PMID: 37389240Free PMC Article
Primary biliary cholangitis: Epidemiology, prognosis, and treatment.
Trivella J, John BV, Levy C
Hepatol Commun 2023 Jun 1;7(6) Epub 2023 Jun 2 doi: 10.1097/HC9.0000000000000179. PMID: 37267215Free PMC Article
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
Current understanding of primary biliary cholangitis.
Tanaka A
Clin Mol Hepatol 2021 Jan;27(1):1-21. Epub 2020 Dec 3 doi: 10.3350/cmh.2020.0028. PMID: 33264835Free PMC Article
EASL Clinical Practice Guidelines: The diagnosis and management of patients with primary biliary cholangitis.
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2017 Jul;67(1):145-172. Epub 2017 Apr 18 doi: 10.1016/j.jhep.2017.03.022. PMID: 28427765

Clinical prediction guides

Efficacy and Safety of Elafibranor in Primary Biliary Cholangitis.
Kowdley KV, Bowlus CL, Levy C, Akarca US, Alvares-da-Silva MR, Andreone P, Arrese M, Corpechot C, Francque SM, Heneghan MA, Invernizzi P, Jones D, Kruger FC, Lawitz E, Mayo MJ, Shiffman ML, Swain MG, Valera JM, Vargas V, Vierling JM, Villamil A, Addy C, Dietrich J, Germain JM, Mazain S, Rafailovic D, Taddé B, Miller B, Shu J, Zein CO, Schattenberg JM; ELATIVE Study Investigators’ Group; ELATIVE Study Investigators' Group
N Engl J Med 2024 Feb 29;390(9):795-805. Epub 2023 Nov 13 doi: 10.1056/NEJMoa2306185. PMID: 37962077
Autoimmune biliary diseases: primary biliary cholangitis and primary sclerosing cholangitis.
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
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
A Placebo-Controlled Trial of Bezafibrate in Primary Biliary Cholangitis.
Corpechot C, Chazouillères O, Rousseau A, Le Gruyer A, Habersetzer F, Mathurin P, Goria O, Potier P, Minello A, Silvain C, Abergel A, Debette-Gratien M, Larrey D, Roux O, Bronowicki JP, Boursier J, de Ledinghen V, Heurgue-Berlot A, Nguyen-Khac E, Zoulim F, Ollivier-Hourmand I, Zarski JP, Nkontchou G, Lemoinne S, Humbert L, Rainteau D, Lefèvre G, de Chaisemartin L, Chollet-Martin S, Gaouar F, Admane FH, Simon T, Poupon R
N Engl J Med 2018 Jun 7;378(23):2171-2181. doi: 10.1056/NEJMoa1714519. PMID: 29874528
Primary biliary cholangitis.
Parés A
Med Clin (Barc) 2018 Sep 21;151(6):242-249. Epub 2018 Mar 9 doi: 10.1016/j.medcli.2017.12.021. PMID: 29526309

Recent systematic reviews

Epidemiologic and genetic associations between primary biliary cholangitis and extrahepatic rheumatic diseases.
Qian Q, Wu Y, Cui N, Li Y, Zhou Y, Li Y, Lian M, Xiao X, Miao Q, You Z, Wang Q, Shi Y, Cordell HJ, Timilsina S, Gershwin ME, Li Z, Ma X, Ruqi Tang
J Autoimmun 2024 Sep;148:103289. Epub 2024 Jul 26 doi: 10.1016/j.jaut.2024.103289. PMID: 39059058
Optimal drug regimens for improving ALP biochemical levels in patients with primary biliary cholangitis refractory to UDCA: a systematic review and Bayesian network meta-analysis.
Lin W, Wang JX, Liu YJ
Syst Rev 2024 Jan 29;13(1):46. doi: 10.1186/s13643-024-02460-0. PMID: 38287391Free PMC Article
Cholestatic Pruritus Treatments in Primary Biliary Cholangitis and Primary Sclerosing Cholangitis: A Systematic Literature Review.
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
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.
Cordell HJ, Fryett JJ, Ueno K, Darlay R, Aiba Y, Hitomi Y, Kawashima M, Nishida N, Khor SS, Gervais O, Kawai Y, Nagasaki M, Tokunaga K, Tang R, Shi Y, Li Z, Juran BD, Atkinson EJ, Gerussi A, Carbone M, Asselta R, Cheung A, de Andrade M, Baras A, Horowitz J, Ferreira MAR, Sun D, Jones DE, Flack S, Spicer A, Mulcahy VL, Byan J, Han Y, Sandford RN, Lazaridis KN, Amos CI, Hirschfield GM, Seldin MF, Invernizzi P, Siminovitch KA, Ma X, Nakamura M, Mells GF; PBC Consortia; Canadian PBC Consortium; Chinese PBC Consortium; Italian PBC Study Group; Japan-PBC-GWAS Consortium; US PBC Consortium; UK-PBC Consortium
J Hepatol 2021 Sep;75(3):572-581. Epub 2021 May 23 doi: 10.1016/j.jhep.2021.04.055. PMID: 34033851Free PMC Article
Treatment of primary biliary cholangitis ursodeoxycholic acid non-responders: A systematic review.
Suraweera D, Rahal H, Jimenez M, Viramontes M, Choi G, Saab S
Liver Int 2017 Dec;37(12):1877-1886. Epub 2017 Jun 14 doi: 10.1111/liv.13477. PMID: 28517369

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