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Sclerosing cholangitis

MedGen UID:
3036
Concept ID:
C0008313
Disease or Syndrome
Synonyms: Cholangiitides, Sclerosing; Cholangiitis, Sclerosing; Cholangitides, Sclerosing; Cholangitis, Sclerosing; Sclerosing Cholangiitides; Sclerosing Cholangiitis; Sclerosing Cholangitides; Sclerosing Cholangitis
SNOMED CT: Sclerosing cholangitis (235917005)
 
HPO: HP:0030991
Monarch Initiative: MONDO:0018646
Orphanet: ORPHA447771

Definition

Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative. [from HPO]

Conditions with this feature

Hyper-IgM syndrome type 1
MedGen UID:
96019
Concept ID:
C0398689
Disease or Syndrome
X-linked hyper IgM syndrome (HIGM1), a disorder of abnormal T- and B-cell function, is characterized by low serum concentrations of IgG, IgA, and IgE with normal or elevated serum concentrations of IgM. Mitogen proliferation may be normal, but NK- and T-cell cytotoxicity can be impaired. Antigen-specific responses are usually decreased or absent. Total numbers of B cells are normal but there is a marked reduction of class-switched memory B cells. Defective oxidative burst of both neutrophils and macrophages has been reported. The range of clinical findings varies, even within the same family. More than 50% of males with HIGM1 develop symptoms by age one year, and more than 90% are symptomatic by age four years. HIGM1 usually presents in infancy with recurrent upper- and lower-respiratory tract bacterial infections, opportunistic infections including Pneumocystis jirovecii pneumonia, and recurrent or protracted diarrhea that can be infectious or noninfectious and is associated with failure to thrive. Neutropenia is common; thrombocytopenia and anemia are less commonly seen. Autoimmune and/or inflammatory disorders (such as sclerosing cholangitis) as well as increased risk for neoplasms have been reported as medical complications of this disorder. Significant neurologic complications, often the result of a CNS infection, are seen in 5%-15% of affected males. Liver disease, a serious complication of HIGM1 once observed in more than 80% of affected males by age 20 years, may be decreasing with adequate screening and treatment of Cryptosporidium infection.
Neonatal ichthyosis-sclerosing cholangitis syndrome
MedGen UID:
334382
Concept ID:
C1843355
Disease or Syndrome
A very rare complex ichthyosis syndrome with characteristics of scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. The ichthyosis presents with diffuse white scales sparing the skin folds and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly and biochemical cholestasis. Caused by a mutation in the CLDN1 gene on chromosome 3q28 coding for the tight junction protein claudin-1. Autosomal recessive pattern of inheritance.
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).
Combined immunodeficiency due to DOCK8 deficiency
MedGen UID:
1648410
Concept ID:
C4722305
Disease or Syndrome
Hyper-IgE syndrome-2 with recurrent infections (HIES2) is an autosomal recessive immunologic disorder characterized by recurrent staphylococcal infections of the skin and respiratory tract, eczema, elevated serum immunoglobulin E, and hypereosinophilia. It is distinguished from autosomal dominant HIES1 (147060) by the lack of connective tissue and skeletal involvement (Renner et al., 2004). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see 147060. See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006).
Immunodeficiency 92
MedGen UID:
1794249
Concept ID:
C5562039
Disease or Syndrome
Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative (summary by Beaussant-Cohen et al., 2019 and Levy et al., 2021).
Cholestasis, progressive familial intrahepatic, 8
MedGen UID:
1794255
Concept ID:
C5562045
Disease or Syndrome
Progressive familial intrahepatic cholestasis-8 (PFIC8) is an autosomal recessive disorder characterized by cholestasis and high gamma-glutamyltransferase presenting in the infantile period (summary by Unlusoy Aksu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600).

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
Ilyas SI, 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
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2022 Sep;77(3):761-806. Epub 2022 Jun 21 doi: 10.1016/j.jhep.2022.05.011. PMID: 35738507
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

Therapy

Tahboub Amawi AD, Tremaine WJ, Venkatesh SK
Clin Gastroenterol Hepatol 2022 Feb;20(2):e18. Epub 2020 Dec 3 doi: 10.1016/j.cgh.2020.11.048. PMID: 33279784
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
Chazouillères O
Dig Dis 2015;33 Suppl 2:181-7. Epub 2015 Dec 7 doi: 10.1159/000440831. PMID: 26641819
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
Vogel A, Saborowski A
Digestion 2017;95(3):181-185. Epub 2017 Mar 14 doi: 10.1159/000454763. PMID: 28288474
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
Ilyas SI, 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
Kim TS, Choi DH
Korean J Gastroenterol 2020 Apr 25;75(4):182-187. doi: 10.4166/kjg.2020.75.4.182. PMID: 32326684
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
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
Mieli-Vergani G, Vergani D, Baumann U, Czubkowski P, Debray D, Dezsofi A, Fischler B, Gupte G, Hierro L, Indolfi G, Jahnel J, Smets F, Verkade HJ, Hadžić N
J Pediatr Gastroenterol Nutr 2018 Feb;66(2):345-360. doi: 10.1097/MPG.0000000000001801. PMID: 29356770

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