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Hepatitis

MedGen UID:
5515
Concept ID:
C0019158
Disease or Syndrome
Synonym: Hepatitides
SNOMED CT: Inflammatory disorder of liver (128241005); Inflammatory disease of liver (128241005); Hepatitis (128241005); Inflammatory liver disease (128241005)
 
HPO: HP:0012115
Monarch Initiative: MONDO:0002251

Definition

Inflammation of the liver. [from HPO]

Conditions with this feature

Polyglandular autoimmune syndrome, type 2
MedGen UID:
39126
Concept ID:
C0085860
Disease or Syndrome
Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune Addison disease in association with either autoimmune thyroid disease or type I diabetes mellitus, or both. Chronic candidiasis is not present. APS2 may occur at any age and in both sexes, but is most common in middle-aged females and is very rare in childhood (summary by Betterle et al., 2004). See 240300 for a phenotypic description of autoimmune polyendocrine syndrome type I (APS1).
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
MedGen UID:
83339
Concept ID:
C0342288
Disease or Syndrome
IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome is characterized by systemic autoimmunity, typically beginning in the first year of life. Presentation is most commonly the clinical triad of watery diarrhea, endocrinopathy (most commonly insulin-dependent diabetes mellitus), and eczematous dermatitis. Most children have other autoimmune phenomena including cytopenias, autoimmune hepatitis, or nephropathy; lymphadenopathy, splenomegaly, alopecia, arthritis, and lung disease related to immune dysregulation have all been observed. Fetal presentation of IPEX includes hydrops, echogenic bowel, skin desquamation, IUGR, and fetal akinesia. Without aggressive immunosuppression or bone marrow transplantation, the majority of affected males die within the first one to two years of life from metabolic derangements, severe malabsorption, or sepsis; a few with a milder phenotype have survived into the second or third decade of life.
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.
X-linked lymphoproliferative disease due to XIAP deficiency
MedGen UID:
336848
Concept ID:
C1845076
Disease or Syndrome
X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.
Neonatal diabetes mellitus with congenital hypothyroidism
MedGen UID:
347541
Concept ID:
C1857775
Disease or Syndrome
Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome is characterized by intrauterine growth retardation and onset of nonimmune diabetes mellitus within the first few weeks of life. Other features include renal parenchymal disease, primarily renal cystic dysplasia, and hepatic disease, with hepatitis in some patients and hepatic fibrosis and cirrhosis in others. Facial dysmorphism, when present, consistently involves low-set ears, epicanthal folds, flat nasal bridge, long philtrum, and thin upper lip. Most patients exhibit developmental delay (Dimitri et al., 2015).
PGM1-congenital disorder of glycosylation
MedGen UID:
414536
Concept ID:
C2752015
Disease or Syndrome
Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014). For a discussion of the classification of CDGs, see CDG1A (212065).
Syndromic multisystem autoimmune disease due to ITCH deficiency
MedGen UID:
461999
Concept ID:
C3150649
Disease or Syndrome
Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.
Complement component C1s deficiency
MedGen UID:
462428
Concept ID:
C3151078
Disease or Syndrome
A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.
Congenital bile acid synthesis defect 3
MedGen UID:
462497
Concept ID:
C3151147
Disease or Syndrome
Congenital bile acid synthesis defect-3 (CBAS3) is an autosomal recessive disorder characterized by prolonged jaundice after birth, hepatomegaly, conjugated hyperbilirubinemia, elevations in characteristic abnormal bile acids, and progressive intrahepatic cholestasis with liver fibrosis (summary by Setchell et al., 1998 and Ueki et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of congenital bile acid synthesis defects, see 607765.
Aicardi-Goutieres syndrome 7
MedGen UID:
854829
Concept ID:
C3888244
Disease or Syndrome
Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
MedGen UID:
1638271
Concept ID:
C4551512
Disease or Syndrome
Immunodeficiency 82 with systemic inflammation
MedGen UID:
1781752
Concept ID:
C5543581
Disease or Syndrome
Immunodeficiency-82 with systemic inflammation (IMD82) is a complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP; 123260), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway. Treatment with SYK inhibitors rescued human cell abnormalities and resulted in clinical improvement in mice (Wang et al., 2021).

Professional guidelines

PubMed

Yoshiji H, Nagoshi S, Akahane T, Asaoka Y, Ueno Y, Ogawa K, Kawaguchi T, Kurosaki M, Sakaida I, Shimizu M, Taniai M, Terai S, Nishikawa H, Hiasa Y, Hidaka H, Miwa H, Chayama K, Enomoto N, Shimosegawa T, Takehara T, Koike K
J Gastroenterol 2021 Jul;56(7):593-619. Epub 2021 Jul 7 doi: 10.1007/s00535-021-01788-x. PMID: 34231046Free PMC Article
Wilkins T, Sams R, Carpenter M
Am Fam Physician 2019 Mar 1;99(5):314-323. PMID: 30811163
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2017 Aug;67(2):370-398. Epub 2017 Apr 18 doi: 10.1016/j.jhep.2017.03.021. PMID: 28427875

Recent clinical studies

Etiology

Kasper P, Lang S, Steffen HM, Demir M
Liver Int 2023 Oct;43(10):2078-2095. Epub 2023 Aug 22 doi: 10.1111/liv.15701. PMID: 37605624
Pan C, Gish R, Jacobson IM, Hu KQ, Wedemeyer H, Martin P
Dig Dis Sci 2023 Aug;68(8):3237-3248. Epub 2023 Jun 20 doi: 10.1007/s10620-023-07960-y. PMID: 37338616Free PMC Article
Lohse AW, Sebode M, Bhathal PS, Clouston AD, Dienes HP, Jain D, Gouw ASH, Guindi M, Kakar S, Kleiner DE, Krech T, Lackner C, Longerich T, Saxena R, Terracciano L, Washington K, Weidemann S, Hübscher SG, Tiniakos D
Liver Int 2022 May;42(5):1058-1069. Epub 2022 Mar 12 doi: 10.1111/liv.15217. PMID: 35230735
Hammond S
Workplace Health Saf 2021 Mar;69(3):142. doi: 10.1177/2165079920988687. PMID: 33554785
D'souza S, Lau KC, Coffin CS, Patel TR
World J Gastroenterol 2020 Oct 14;26(38):5759-5783. doi: 10.3748/wjg.v26.i38.5759. PMID: 33132633Free PMC Article

Diagnosis

Yang J, Wang D, Li Y, Wang H, Hu Q, Wang Y
Front Cell Infect Microbiol 2023;13:1189417. Epub 2023 May 17 doi: 10.3389/fcimb.2023.1189417. PMID: 37265499Free PMC Article
Castaneda D, Gonzalez AJ, Alomari M, Tandon K, Zervos XB
World J Gastroenterol 2021 Apr 28;27(16):1691-1715. doi: 10.3748/wjg.v27.i16.1691. PMID: 33967551Free PMC Article
Mack CL, Adams D, Assis DN, Kerkar N, Manns MP, Mayo MJ, Vierling JM, Alsawas M, Murad MH, Czaja AJ
Hepatology 2020 Aug;72(2):671-722. Epub 2020 May 12 doi: 10.1002/hep.31065. PMID: 31863477
Hardikar W
J Paediatr Child Health 2019 Sep;55(9):1038-1043. Epub 2019 Jul 17 doi: 10.1111/jpc.14562. PMID: 31317618
Adiga A, Nugent K
Am J Med Sci 2017 Apr;353(4):329-335. Epub 2016 Nov 4 doi: 10.1016/j.amjms.2016.10.014. PMID: 28317620

Therapy

Gane E, Lim YS, Kim JB, Jadhav V, Shen L, Bakardjiev AI, Huang SA, Cathcart AL, Lempp FA, Janas MM, Cloutier DJ, Kaittanis C, Sepp-Lorenzino L, Hinkle G, Taubel J, Haslett P, Milstein S, Anglero-Rodriguez YI, Hebner CM, Pang PS, Yuen MF
J Hepatol 2023 Oct;79(4):924-932. Epub 2023 Jun 7 doi: 10.1016/j.jhep.2023.05.023. PMID: 37290591
Crabb DW, Bataller R, Chalasani NP, Kamath PS, Lucey M, Mathurin P, McClain C, McCullough A, Mitchell MC, Morgan TR, Nagy L, Radaeva S, Sanyal A, Shah V, Szabo G; NIAAA Alcoholic Hepatitis Consortia
Gastroenterology 2016 Apr;150(4):785-90. Epub 2016 Feb 24 doi: 10.1053/j.gastro.2016.02.042. PMID: 26921783Free PMC Article
Lee YA, Wallace MC, Friedman SL
Gut 2015 May;64(5):830-41. Epub 2015 Feb 13 doi: 10.1136/gutjnl-2014-306842. PMID: 25681399Free PMC Article
Khuroo MS, Khuroo MS
Curr Opin Infect Dis 2008 Oct;21(5):539-43. doi: 10.1097/QCO.0b013e32830ee08a. PMID: 18725805
Maddrey WC, Boitnott JK, Bedine MS, Weber FL Jr, Mezey E, White RI Jr
Gastroenterology 1978 Aug;75(2):193-9. PMID: 352788

Prognosis

Rumgay H, Arnold M, Ferlay J, Lesi O, Cabasag CJ, Vignat J, Laversanne M, McGlynn KA, Soerjomataram I
J Hepatol 2022 Dec;77(6):1598-1606. Epub 2022 Oct 5 doi: 10.1016/j.jhep.2022.08.021. PMID: 36208844Free PMC Article
Paik JM, Kabbara K, Eberly KE, Younossi Y, Henry L, Younossi ZM
Hepatology 2022 May;75(5):1204-1217. Epub 2021 Dec 21 doi: 10.1002/hep.32228. PMID: 34741554
Clemente-Sánchez A, Oliveira-Mello A, Bataller R
Clin Liver Dis 2021 Aug;25(3):537-555. Epub 2021 May 27 doi: 10.1016/j.cld.2021.03.001. PMID: 34229838Free PMC Article
Paik JM, Golabi P, Younossi Y, Mishra A, Younossi ZM
Hepatology 2020 Nov;72(5):1605-1616. Epub 2020 Oct 27 doi: 10.1002/hep.31173. PMID: 32043613
Rizvi S, 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

Pons M, Augustin S, Scheiner B, Guillaume M, Rosselli M, Rodrigues SG, Stefanescu H, Ma MM, Mandorfer M, Mergeay-Fabre M, Procopet B, Schwabl P, Ferlitsch A, Semmler G, Berzigotti A, Tsochatzis E, Bureau C, Reiberger T, Bosch J, Abraldes JG, Genescà J
Am J Gastroenterol 2021 Apr;116(4):723-732. doi: 10.14309/ajg.0000000000000994. PMID: 33982942
Iezzoni JC
Semin Diagn Pathol 2018 Nov;35(6):381-389. Epub 2018 Oct 16 doi: 10.1053/j.semdp.2018.10.003. PMID: 30409459
Sherman M
Semin Liver Dis 2017 Nov;37(4):287-295. Epub 2017 Dec 22 doi: 10.1055/s-0037-1607452. PMID: 29272891
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
Wai CT, Greenson JK, Fontana RJ, Kalbfleisch JD, Marrero JA, Conjeevaram HS, Lok AS
Hepatology 2003 Aug;38(2):518-26. doi: 10.1053/jhep.2003.50346. PMID: 12883497

Recent systematic reviews

Im YR, Jagdish R, Leith D, Kim JU, Yoshida K, Majid A, Ge Y, Ndow G, Shimakawa Y, Lemoine M
Lancet Gastroenterol Hepatol 2022 Oct;7(10):932-942. Epub 2022 Aug 10 doi: 10.1016/S2468-1253(22)00201-1. PMID: 35961359Free PMC Article
Pape S, Snijders RJALM, Gevers TJG, Chazouilleres O, Dalekos GN, Hirschfield GM, Lenzi M, Trauner M, Manns MP, Vierling JM, Montano-Loza AJ, Lohse AW, Schramm C, Drenth JPH, Heneghan MA; International Autoimmune Hepatitis Group (IAIHG) collaborators(‡)
J Hepatol 2022 Apr;76(4):841-849. Epub 2022 Jan 20 doi: 10.1016/j.jhep.2021.12.041. PMID: 35066089
Wang H, Men P, Xiao Y, Gao P, Lv M, Yuan Q, Chen W, Bai S, Wu J
BMC Infect Dis 2019 Sep 18;19(1):811. doi: 10.1186/s12879-019-4428-y. PMID: 31533643Free PMC Article
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
Schweitzer A, Horn J, Mikolajczyk RT, Krause G, Ott JJ
Lancet 2015 Oct 17;386(10003):1546-55. Epub 2015 Jul 28 doi: 10.1016/S0140-6736(15)61412-X. PMID: 26231459

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