The diagnosis of primary biliary cirrhosis

Bowlus, Christopher L.; Gershwin, M. Eric

doi:10.1016/j.autrev.2014.01.041

Cited by 162Liver Diseases and ImmunityPediatric Hepatobiliary Diseases and TreatmentsIgG4-Related and Inflammatory Diseases

The diagnosis of primary biliary cirrhosis

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Bowlus, Christopher L., Gershwin, M. Eric·2014·Autoimmunity Reviews

DOI 10.1016/j.autrev.2014.01.041PMC PMC3987745

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Abstract

Primary biliary cirrhosis (PBC) is a chronic liver disease characterized by the immune mediated destruction of small intrahepatic bile duct epithelial cells leading to cholestasis and cirrhosis. The autoimmune basis of PBC is supported by the highly specific anti-mitochondrial antibodies (AMAs) and autoreactive T cells, the former being the basis for diagnosis in the vast majority of cases. Although a rare disease, the incidence rates of PBC have been increasing, possibly due to increased testing and diagnosis as opposed to a true increase in disease incidence. Presently, most cases are asymptomatic and only suspected based upon routine liver tests. Those with symptoms typically complain of pruritus and fatigue. The diagnosis of PBC is based on the presence of at least 2 of 3 key criteria including a persistently elevated serum alkaline phosphatase, the presence of serum AMAs, and liver histology consistent with PBC. Anti-nuclear antibodies specific to PBC are useful in cases in which AMAs are not detected and may indicate a more aggressive course. Ursodeoxycholic acid is the only proven therapy for PBC and in most cases can delay or prevent disease progression. However, a subgroup of patients does not adequately respond to ursodeoxycholic acid and for whom new therapies are needed.

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AMA-M2 positivity is a serological criterion for diagnosis of PBC, and its detection is routine in clinical settings.
“The detection of the M2 type of anti-mitochondrial antibodies (that is, AMA-M2, often mistakenly referred to as ‘AMA’ by metonymy) is routinely performed in clinical settings as AMA-M2 positivity is a serological criterion for the diagnosis of PBC232.”
From The role of mitochondria in rheumatic diseases (2022) · cites this paper as [232]

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Authors: Bowlus, C. L., & Gershwin, M. E.
Affiliations: University of California, Davis (US)
Corresponding author: Bowlus, Christopher L.
ORCID: Bowlus, Christopher L.
Venue: Autoimmunity Reviews
Publisher: Elsevier BV
Published: 2014-04
Volume: 13
Issue: 4-5
Pages: 441-444
ISSN: 1568-9972 (ISSN-L)
DOI: 10.1016/j.autrev.2014.01.041
PMC: PMC3987745
OpenAlex: W2060770061
Cited by: 162
References: 67
Citations by year: 2026: 6 · 2025: 8 · 2024: 7 · 2023: 10 · 2022: 15 · 2021: 9 · 2020: 12 · 2019: 15 · 2018: 13 · 2017: 12 · 2016: 14 · 2015: 25 · 2014: 14
FWCI: 2.88
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Autoimmunity Reviews (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
eScholarship (California Digital Library) (submittedVersion)
Funders: National Institute of Diabetes and Digestive and Kidney Diseases (R01DK039588)
Topics: Health Sciences › Medicine › Hepatology › Liver Diseases and Immunity
Health Sciences › Medicine › Surgery › Pediatric Hepatobiliary Diseases and Treatments
Health Sciences › Medicine › Rheumatology › IgG4-Related and Inflammatory Diseases
Keywords: primary biliary cirrhosis, diagnosis, antimitochondrial antibodies, autoantibodies, cholestasis, autoimmune liver disease, alkaline phosphatase, liver histopathology, antinuclear antibodies, ursodeoxycholic acid, disease progression, incidence
MeSH terms: Animals, Antibodies, Diagnosis, Differential, Humans, Liver Cirrhosis, Biliary, Mitochondria, Hepatitis, Autoimmune

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