Overlap Syndromes

Ulrich Beuers, MD; Christian Rust, MD

Disclosures

Semin Liver Dis. 2005;25(3):311-320. 

In This Article

Abstract and Introduction

In hepatology, the term overlap syndrome describes variant forms of the major hepatobiliary autoimmune diseases, autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC), and primary sclerosing cholangitis (PSC). Patients with overlap syndromes present with both hepatitic and cholestatic biochemical and histological features of AIH, PBC, and/or PSC, and usually show a progressive course toward liver cirrhosis and liver failure without adequate treatment. AIH-PBC overlap syndromes have been reported in almost 10% of adults with AIH or PBC, whereas AIH-PSC overlap syndromes were found in 6 to 8% of children, adolescents, and young adults with AIH or PSC. A minority of patients may also show transition from stable PBC to AIH, AIH to PBC, or AIH to PSC, as documented by single case reports and small case series. Single cases of AIH and autoimmune cholangitis (antimitochondrial antibody-negative PBC) overlap have also been reported. Empiric medical treatment of AIH-PBC and AIH-PSC overlap syndromes includes anticholestatic therapy with ursodeoxycholic acid and immunosuppressive therapy with corticosteroids and azathioprine. In end-stage disease, liver transplantation is the treatment of choice.

The term overlap syndrome has been adopted by hepatologists to describe variant forms of autoimmune hepatitis (AIH) that present with characteristics of AIH and primary biliary cirrhosis (PBC) or primary sclerosing cholangitis (PSC). It remains unclear whether these overlap syndromes form distinct entities or are only variants of the major autoimmune hepatopathies.[1,2,3,4] Standardization of diagnostic criteria for overlap syndromes has not been achieved so far, and misuse of the term overlap syndrome is common in clinical practice.

A careful data analysis revealed that variant forms of AIH form a considerable fraction of autoimmune liver diseases.[1] In addition to AIH-PBC and AIH-PSC overlap syndromes, the outlier syndrome autoimmune cholangitis (AIC), today mainly regarded as antimitochondrial antibody [AMA]-negative PBC, has been a matter of debate.[1] Overlap of AIC and AIH has also been reported. Whether overlap between PBC and PSC exists remains unclear. Transitions from one to another autoimmune hepatopathy (e.g., from PBC to AIH[5,6] and from AIH to PSC[7,8]) have also been reported and are discussed here together with the respective overlap syndromes. The term overlap syndrome appears to be misused when characteristic features of an autoimmune hepatopathy are detected together with those of a second liver disease (e.g., chronic hepatitis C).

This article is an extension of a recent review[9] and includes a series of case reports that may illustrate typical features of different overlap syndromes. It summarizes current views on overlap syndromes and the outlier syndrome AIC, and also discusses several controversial issues in this field.

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