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Biliary cirrhosis

MedGen UID:
44182
Concept ID:
C0023892
Disease or Syndrome
Synonyms: Biliary Cirrhosis; Cirrhosis, Biliary; Liver Cirrhoses, Biliary; Liver Cirrhosis, Biliary
SNOMED CT: Biliary cirrhosis (1761006); Cholangitic cirrhosis (1761006); Cholestatic cirrhosis (1761006)
 
HPO: HP:0002613

Definition

Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. [from HPO]

Conditions with this feature

Cystic fibrosis
MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF.
Reynolds syndrome
MedGen UID:
450547
Concept ID:
C0748397
Disease or Syndrome
An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive.
Hereditary North American Indian childhood cirrhosis
MedGen UID:
387974
Concept ID:
C1858051
Disease or Syndrome
North American Indian childhood cirrhosis is a rare liver disorder that occurs in children. The liver malfunction causes yellowing of the skin and whites of the eyes (jaundice) in affected infants. The disorder worsens with age, progressively damaging the liver and leading to chronic, irreversible liver disease (cirrhosis) in childhood or adolescence. Unless it is treated with liver transplantation, North American Indian childhood cirrhosis typically causes life-threatening complications including liver failure.
Cirrhosis, familial
MedGen UID:
350049
Concept ID:
C1861556
Disease or Syndrome
Cirrhosis in which no causative agent can be identified.
NPHP3-related Meckel-like syndrome
MedGen UID:
382217
Concept ID:
C2673885
Disease or Syndrome
This autosomal recessive disorder is designated Meckel syndrome type 7 (MKS7) based on the classic phenotypic triad of (1) cystic renal disease; (2) a central nervous system abnormality, and (3) hepatic abnormalities, as defined by Meckel (1822), Salonen (1984), and Logan et al. (2011). According to these criteria, polydactyly is a variable feature. Herriot et al. (1991) and Al-Gazali et al. (1996) concluded that Dandy-Walker malformation can be the phenotypic manifestation of a central nervous system malformation in MKS. For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).
Cranioectodermal dysplasia 2
MedGen UID:
462224
Concept ID:
C3150874
Disease or Syndrome
Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.
Renal-hepatic-pancreatic dysplasia 1
MedGen UID:
811626
Concept ID:
C3715199
Disease or Syndrome
Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.
Isolated neonatal sclerosing cholangitis
MedGen UID:
1393230
Concept ID:
C4479344
Disease or Syndrome
Neonatal sclerosing cholangitis (NSC) is a rare autosomal recessive form of severe liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life. Cholangiography shows patent biliary ducts, but there are bile duct irregularities (summary by Girard et al., 2016; Grammatikopoulos et al., 2016).
Primary biliary cholangitis 1
MedGen UID:
1642459
Concept ID:
C4551595
Disease or Syndrome
Biliary, renal, neurologic, and skeletal syndrome
MedGen UID:
1794200
Concept ID:
C5561990
Disease or Syndrome
Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by Shaheen et al., 2020 and David et al., 2020).
Congenital disorder of glycosylation, type IIaa
MedGen UID:
1841287
Concept ID:
C5830651
Disease or Syndrome
Congenital disorder of glycosylation type IIaa (CDG2AA) is an autosomal recessive disorder characterized by infantile mortality due to liver disease, skeletal abnormalities, and protein glycosylation defects (Linders et al., 2021). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).

Professional guidelines

PubMed

Gulamhusein AF, Hirschfield GM
Nat Rev Gastroenterol Hepatol 2020 Feb;17(2):93-110. Epub 2019 Dec 9 doi: 10.1038/s41575-019-0226-7. PMID: 31819247
Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH
J Biomed Sci 2018 Oct 26;25(1):75. doi: 10.1186/s12929-018-0475-8. PMID: 30367658Free PMC Article
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

Curated

UK NICE Guideline (NG50), Cirrhosis in over 16s: assessment and management, 2023

Recent clinical studies

Etiology

Zhao D, Zhao Q, Xu F, Zhang F, Bai W
Front Immunol 2023;14:1264554. Epub 2024 Jan 4 doi: 10.3389/fimmu.2023.1264554. PMID: 38239358Free PMC Article
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
Czul F, Levy C
Clin Liver Dis 2016 Feb;20(1):113-30. doi: 10.1016/j.cld.2015.08.006. PMID: 26593294
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
Kahn E
Pediatr Dev Pathol 2004 Mar-Apr;7(2):109-24. Epub 2004 Mar 4 doi: 10.1007/s10024-003-0307-y. PMID: 14994122

Diagnosis

Zhao D, Zhao Q, Xu F, Zhang F, Bai W
Front Immunol 2023;14:1264554. Epub 2024 Jan 4 doi: 10.3389/fimmu.2023.1264554. PMID: 38239358Free PMC Article
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
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
Talwalkar JA, Lindor KD
Lancet 2003 Jul 5;362(9377):53-61. doi: 10.1016/S0140-6736(03)13808-1. PMID: 12853201
Heathcote EJ
Clin Liver Dis 1998 May;2(2):303-11, viii-ix. doi: 10.1016/s1089-3261(05)70009-x. PMID: 15560034

Therapy

Zhao D, Zhao Q, Xu F, Zhang F, Bai W
Front Immunol 2023;14:1264554. Epub 2024 Jan 4 doi: 10.3389/fimmu.2023.1264554. PMID: 38239358Free PMC Article
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
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
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
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

Trivedi PJ, Hirschfield GM
Gut 2021 Oct;70(10):1989-2003. Epub 2021 Jul 15 doi: 10.1136/gutjnl-2020-322362. PMID: 34266966
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
Lammers WJ, van Buuren HR, Hirschfield GM, Janssen HL, Invernizzi P, Mason AL, Ponsioen CY, Floreani A, Corpechot C, Mayo MJ, Battezzati PM, Parés A, Nevens F, Burroughs AK, Kowdley KV, Trivedi PJ, Kumagi T, Cheung A, Lleo A, Imam MH, Boonstra K, Cazzagon N, Franceschet I, Poupon R, Caballeria L, Pieri G, Kanwar PS, Lindor KD, Hansen BE; Global PBC Study Group
Gastroenterology 2014 Dec;147(6):1338-49.e5; quiz e15. Epub 2014 Aug 23 doi: 10.1053/j.gastro.2014.08.029. PMID: 25160979
Liang Y, Yang Z, Zhong R
Hepatology 2012 Oct;56(4):1409-17. Epub 2012 Aug 27 doi: 10.1002/hep.25788. PMID: 22504852
Dennis CM, McNeil KD, Dunning J, Stewart S, Friend PJ, Alexander G, Higenbottam TW, Calne RY, Wallwork J
J Heart Lung Transplant 1996 May;15(5):536-8. PMID: 8771510

Clinical prediction guides

Tabibian JH, Baron TH
Expert Rev Gastroenterol Hepatol 2018 Jul;12(7):693-703. Epub 2018 Jun 18 doi: 10.1080/17474124.2018.1483719. PMID: 29883229
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
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
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
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

Schreuder AM, Busch OR, Besselink MG, Ignatavicius P, Gulbinas A, Barauskas G, Gouma DJ, van Gulik TM
Dig Surg 2020;37(1):10-21. Epub 2019 Jan 17 doi: 10.1159/000496432. PMID: 30654363Free PMC Article
Liang J, Meng WD, Yang JM, Li SL, Zhong MN, Hou XX, Wang R, Long YY, Bao LX, Bao M
Clin Endocrinol (Oxf) 2018 Oct;89(4):408-413. Epub 2018 Aug 9 doi: 10.1111/cen.13762. PMID: 29885255
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
Liang Y, Yang Z, Zhong R
Hepatology 2012 Oct;56(4):1409-17. Epub 2012 Aug 27 doi: 10.1002/hep.25788. PMID: 22504852
Neuberger J
Hepatology 2000 Apr;31(4):1027-8. doi: 10.1002/hep.510310431. PMID: 10733564

Supplemental Content

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    Clinical resources

    Practice guidelines

    • PubMed
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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2023
      UK NICE Guideline (NG50), Cirrhosis in over 16s: assessment and management, 2023

    Consumer resources

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