Autoimmune hepatitis
Synonyms: AIH
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare liver disease characterized by immune-mediated, acute or chronic liver inflammation, clinically presenting as cryptogenic hepatitis, with interface hepatitis on histological examination, elevated serum aminotransferase levels, and hypergammaglobulinemia / elevated immunoglobulin G, in the presence or absence of specific circulating autoantibodies. Patients may be asymptomatic, chronically ill, or present with acute liver failure. Concurrent autoimmune diseases are frequently observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autoimmune hepatitis | AIH |
| fr | Hépatite auto-immune | HAI |
| de | Hepatitis, autoimmune | = en |
| es | Hepatitis autoinmune | HAI |
| it | Epatite autoimmune | Epatite autoimmune |
| nl | Auto-immune hepatitis | = en |
| pt | Hepatite auto-imune | |
| pl | Autoimmunologiczne zapalenie wątroby | Przewlekłe autoimmunologiczne zapalenie wątroby |
| cs | Chronická autoimunitní hepatitida | Autoimunitní hepatitida |
| uk | Аутоімунний гепатит | = en |
| zh | 自身免疫性肝炎 | = en |
| tr | Otoimmün hepatit | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K75.4 | E | specific | validated |
| ICD-11 | DB96.0 | E | specific | validated |
| MONDO | 0016264 | E | validated | |
| UMLS | C4721555 | E | validated | |
| GARD | 5871 | E | validated | |
| MedDRA | 10003827 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
17 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Annual incidence | 1-9 / 100 000 | 1.2 / 100 000 | Worldwide | Value and class | Not yet validated | ORPHANET_24326217[PMID] |
| Point prevalence | 1-5 / 10 000 | 23.5 / 100 000 | Worldwide | Value and class | Not yet validated | ORPHANET_24326217[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.75 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Annual incidence | 1-9 / 100 000 | 1.9 / 100 000 | Norway | Value and class | Validated | 9489916[PMID] |
| Point prevalence | 1-5 / 10 000 | 16.9 / 100 000 | Norway | Value and class | Validated | 9489916[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.85 / 100 000 | Sweden | Value and class | Validated | 18609163[PMID] |
| Point prevalence | 1-5 / 10 000 | 24.5 / 100 000 | New Zealand | Value and class | Validated | 20880179[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.95 / 100 000 | Spain | Value and class | Validated | 15056409[PMID]_20163033[PMID]_ORPHANET |
| Point prevalence | 1-5 / 10 000 | 11.6 / 100 000 | Spain | Value and class | Validated | 15056409[PMID] |
| Point prevalence | 1-5 / 10 000 | 10.7 / 100 000 | Sweden | Value and class | Validated | 18609163[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.67 / 100 000 | Israel | Value and class | Validated | 23815477[PMID] |
| Point prevalence | 1-5 / 10 000 | 11 / 100 000 | Israel | Value and class | Validated | 23815477[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.68 / 100 000 | Denmark | Value and class | Validated | 24326217[PMID] |
| Point prevalence | 1-5 / 10 000 | 23.9 / 100 000 | Denmark | Value and class | Validated | 24326217[PMID] |
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | Singapore | Value and class | Validated | 11851837[PMID] |
| Point prevalence | 1-5 / 10 000 | 42.9 / 100 000 | Specific population | Value and class | Validated | 12358264[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
34 annotations · validated 2019-02-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003237 | Increased circulating IgG level | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| Very frequent (99-80%) | ||
| HP:0030909 | Anti-liver cytosolic antigen type 1 antibody positivity | |
| HP:0003453 | Antineutrophil antibody positivity | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0030908 | Liver kidney microsome type 1 antibody positivity | |
| HP:0031925 | Rosette | |
| HP:0003262 | Smooth muscle antibody positivity | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0032469 | Anti-asialoglycoprotein receptor antibody positivity | |
| HP:0002829 | Arthralgia | |
| HP:0012432 | Chronic fatigue | |
| HP:0000716 | Depression | |
| HP:0012522 | Spider hemangioma | |
| Occasional (29-5%) | ||
| HP:0200119 | Acute hepatitis | |
| HP:0000739 | Anxiety | |
| HP:0001369 | Arthritis | |
| HP:0001541 | Ascites | |
| HP:0001394 | Cirrhosis | |
| HP:0006555 | Diffuse hepatic steatosis | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000099 | Glomerulonephritis | |
| HP:0003573 | Increased total bilirubin | |
| HP:0002037 | Inflammation of the large intestine | |
| HP:0000952 | Jaundice | |
| HP:0030991 | Sclerosing cholangitis | |
| HP:0001744 | Splenomegaly | |
| HP:0100646 | Thyroiditis | |
| HP:0100279 | Ulcerative colitis | |
| HP:0001045 | Vitiligo | |
| Very rare (<4-1%) | ||
| HP:0004787 | Fulminant hepatitis | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0006562 | Viral hepatitis | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 30671977[PMID]_25920079[PMID]_28882739[PMID]_28432836[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2137
- This record as JSON: /data/d/2137.json