Autoimmune hepatitis

What it is

From: Orphanet

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.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Anti-liver cytosolic antigen type 1 antibody positivity · Very frequent (99-80%)

The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.

Antineutrophil antibody positivity · Very frequent (99-80%)

The presence of autoantibodies in the serum that react against neutrophils.

Antinuclear antibody positivity · Very frequent (99-80%)

The presence of autoantibodies in the serum that react against nuclei or nuclear components.

Elevated circulating hepatic transaminase concentration · Very frequent (99-80%)

Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

Increased circulating IgG level · Obligate (100%)

An abnormally increased level of immunoglobulin G in blood.

Increased circulating immunoglobulin concentration · Obligate (100%)

An increased level of gamma globulin (immunoglobulin) in the blood.

Liver kidney microsome type 1 antibody positivity · Very frequent (99-80%)

The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2).

Rosette · Very frequent (99-80%)

A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub.

Smooth muscle antibody positivity · Very frequent (99-80%)

The presence in serum of antibodies against smooth muscle.

Abdominal pain · Frequent (79-30%)

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.

Anti-asialoglycoprotein receptor antibody positivity · Frequent (79-30%)

Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.

Arthralgia · Frequent (79-30%)

Joint pain.

Chronic fatigue · Frequent (79-30%)

Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.

Depression · Frequent (79-30%)

Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.

Other findings in the same source

From: Orphanet

Additional reported features include Spider hemangioma (Frequent (79-30%)); Acute hepatitis (Occasional (29-5%)); Anxiety (Occasional (29-5%)); Arthritis (Occasional (29-5%)); Ascites (Occasional (29-5%)); Cirrhosis (Occasional (29-5%)); Diffuse hepatic steatosis (Occasional (29-5%)); Gastrointestinal hemorrhage (Occasional (29-5%)); Glomerulonephritis (Occasional (29-5%)); Increased total bilirubin (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adolescent; Adult; Childhood; Elderly

Inheritance in the source

From: Orphanet

Not applicable

Frequency and the population described

From: Orphanet

Annual incidence: 1-9 / 1 000 000; Europe; Value and class. Annual incidence: 1-9 / 100 000; Norway; Value and class. Point prevalence: 1-5 / 10 000; Norway; Value and class. Annual incidence: 1-9 / 1 000 000; Sweden; Value and class.

Which doctor should you see?

The suggested department for discussing Autoimmune hepatitis is Hepatology, with a hepatologist / gastroenterologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• What is known about the cause and extent of liver involvement?
• Which medicines, supplements or exposures should be reviewed?
• What follow-up is appropriate for the specific diagnosis and stage?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Autoimmune hepatitis. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.