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HelpTest ID: ALDG2 Autoimmune Liver Disease Panel, Serum
Ordering Guidance
For evaluating patients at-risk for antinuclear antibody-associated systemic autoimmune rheumatic disease, particularly systemic lupus erythematosus, Sjogren syndrome, or mixed connective tissue disease, order CTDC / Connective Tissue Disease Cascade, Serum.
Specimen Required
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Container/Tube:
Preferred: Serum gel
Acceptable: Red top
Submission Container/Tube: Plastic vial
Specimen Volume: 1.5 mL
Collection Instructions: Centrifuge and aliquot serum into a plastic vial.
Useful For
Evaluating patients with suspected autoimmune liver disease, specifically autoimmune hepatitis or primary biliary cholangitis
Evaluating patients with liver disease of unknown etiology
Profile Information
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| AMA | Mitochondrial Ab, M2, S | Yes | Yes |
| NAIFA | Antinuclear Ab, HEp-2 Substrate, S | Yes | Yes |
| SMAS | Smooth Muscle Ab Screen, S | Yes | Yes |
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| SMAT | Smooth Muscle Ab Titer, S | No | No |
Testing Algorithm
If smooth muscle antibody (SMA) screen is positive, then the SMA titer will be performed at an additional charge.
For more information see First-Line Screening for Autoimmune Liver Disease Algorithm.
Method Name
AMA: Enzyme Immunoassay (EIA)
NAIFA, SMAS, SMAT: Indirect Immunofluorescence
Reporting Name
Autoimmune Liver Disease Panel, SSpecimen Type
SerumSpecimen Minimum Volume
1.1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Serum | Refrigerated (preferred) | 21 days | |
| Frozen | 21 days |
Clinical Information
Autoimmune liver diseases result from damage to hepatocytes or cholangiocytes caused by an inflammatory immune reaction. Included within this disease group are autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and primary sclerosing cholangitis (PSC).(1) In some cases, patients with these diseases may present asymptomatically, with increases in various liver enzymes being identified incidentally during an unrelated clinical evaluation. On the other end of the spectrum are patients who present with clinical evidence of liver disease, including fatigue, hepatomegaly, ascites, esophageal varices, and jaundice.
Diagnosis of an autoimmune liver disease first requires that other etiologies of liver injury, including viral, drug, and metabolic causes, be excluded. In some situations, a liver biopsy may be indicated. For those patients in whom an autoimmune liver disease is suspected, autoantibody serology testing may be considered. These assays include markers that may support a diagnosis of an autoimmune liver disease, specifically AIH or PBC. Unfortunately, there are no known autoantibodies specific for PSC that are useful as diagnostic markers.(1)
Patients with AIH may be positive for smooth muscle antibodies (SMA) and/or antinuclear antibodies (ANA).(2) SMA are generally identified by indirect immunofluorescence using a smooth muscle substrate. The antigen specificity of SMA in the context of AIH has been identified as filamentous-acting (F-actin). SMA and F-actin antibodies with liver histology and thorough clinical evaluation are useful in the evaluation of patients with suspected autoimmune hepatitis.(3) SMA have a specificity of 80% to 90% for AIH, although the sensitivity is only in the range of 70% to 80%. In contrast, ANA, although relatively sensitive for AIH, lack specificity, being associated with a variety of autoimmune diseases.(4) Both SMA and ANA, along with other lab markers and biopsy evaluation, are included in the international diagnostic criteria for AIH.(5)
In association with chronic cholestasis after exclusion of known causes of liver disease, antimitochondrial antibodies (AMA) are strongly suggestive of a diagnosis of PBC.(6) AMA have a variable prevalence in other autoimmune diseases that can also be found in some apparently healthy individuals.(7,8) AMA are found in more than 90% of patients with PBC, with a specificity of greater than 95%. AMA are included in the clinical practice guidelines for PBC, which were developed through an international collaborative effort.(9)
For more information see First-Line Screening for Autoimmune Liver Disease Algorithm.
Reference Values
MITOCHONDRIAL ANTIBODIES (M2)
Negative: <0.1 Units
Borderline: 0.1-0.3 Units
Weakly positive: 0.4-0.9 Units
Positive: ≥1.0 Units
Reference values apply to all ages.
ANTINUCLEAR ANTIBODIES
Negative: <1:80
SMOOTH MUSCLE ANTIBODIES
Negative
If positive, results are titered.
Reference values apply to all ages.
Interpretation
The presence of smooth muscle antibodies (SMA) or antinuclear antibodies (ANA) is consistent with a diagnosis of chronic autoimmune hepatitis, in patients with clinical or laboratory evidence of hepatocellular damage.
A positive result for antimitochondrial antibodies (AMA) of M2 specificity in the setting of chronic cholestasis after exclusion of other causes of liver disease is highly suggestive of primary biliary cholangitis.
Negative results for SMA, ANA, or AMA does not exclude a diagnosis of an autoimmune liver disease.
This test is not useful for indicating the stage or prognosis of the disease or for monitoring the course of disease.
Clinical Reference
1. Terziroli Beretta-Piccoli B, Mieli-Vergani G, Vergani D: The clinical usage and definition of autoantibodies in immune-mediated liver disease: A comprehensive overview. J Autoimmun. 2018 Dec;95:144-158. doi: 10.1016/j.jaut.2018.10.00462. Mieli-Vergani G, Vergani D, Czaja AJ, et al: Autoimmune hepatitis. Nat Rev Dis Primers. 2018 Apr 12;4:18017
3. Invernizzi P, Lleo A, Podda M: Interpreting serological tests in diagnosing autoimmune liver diseases. Sem Liver Dis. 2007 May;27(2):161-172
4. Terziroli Beretta-Piccoli B, Mieli-Vergani G, Vergani D: Serology in autoimmune hepatitis: A clinical-practice approach. Eur J Intern Med. 2018 Feb;48:35-43
5. Hennes EM, Zeniya M, Czaja AJ, et al: Simplified criteria for the diagnosis of autoimmune hepatitis. Hepatol. 2008 Jul;48(1):169-176
6. Muratori L, Granito A, Muratori P, Pappas G, Bianchi FB: Antimitochondrial antibodies and other antibodies in primary biliary cirrhosis: diagnostic and prognostic value. Clin Liver Dis. 2008 May;12(2):261-276
7. Colapietro F, Lleo A, Generali E: Antimitochondrial antibodies: From bench to bedside. Clin Rev Allergy Immunol. 2022 Oct:63(2):166-177. doi: 10.1007/s12016-021-08904-y 8. Leung PSC, Choi J, Yang G, Woo E, Kenny TP, Gershwin ME: A contemporary perspective on the molecular characteristics of mitochondrial autoantigens and diagnosis in primary biliary cholangitis. Expert Rev Mol Diagn. 2016 Jun;16(6):697-705. doi: 10.1586/14737159.2016.11640389. European Association for the Study of the Liver: EASL Clinical Practice Guidelines: The diagnosis and management of patients with primary biliary cholangitis. J Hepatol. 2017 Jul;67(1):145-172
Day(s) Performed
Monday through Saturday
Report Available
3 to 4 daysTest Classification
See Individual Test IDsCPT Code Information
86381
86039
86015
86015-Titer (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| ALDG2 | Autoimmune Liver Disease Panel, S | 94700-2 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 609515 | Smooth Muscle Ab Screen, S | 26971-2 |
| AMA | Mitochondrial Ab, M2, S | 51715-1 |
| ANAH | Antinuclear Ab, HEp-2 Substrate, S | 59069-5 |
| 1TANA | ANA Titer: | 33253-6 |
| 1PANA | ANA Pattern: | 49311-4 |
| 2TANA | ANA Titer 2: | 33253-6 |
| 2PANA | ANA Pattern 2: | 49311-4 |
| CYTQL | Cytoplasmic Pattern: | 55171-3 |
| LCOM | Lab Comment: | 77202-0 |
Forms
If not ordering electronically, complete, print, and send a Gastroenterology and Hepatology Test Request (T728) with the specimen.