A woman with anti-mitochondrial antibody-negative primary biliary cholangitis for a long-term intermittent elevated hepatic enzymes: a case report

Abstract

: Primary biliary cholangitis (PBC) is a chronic progressive cholestatic liver and autoimmune disease. It characterizes the anti-mitochondrial antibody (AMA) positive and detectable in nearly all patients, acting as a major diagnostic and etiological marker. Here, we reported a patient who was diagnosed with PBC while her AMA was negative. It was a rare subtype of PBC with specific characteristics. This patient suffered long-term elevated hepatic enzyme and cirrhosis while without any other hepatic damage symptoms. Strangely, none of the classic serum markers of cirrhotic etiology was positive, including the hepatic virus antigen, AMA, anti-liver/kidney microsome (LKM) antibody, ceruloplasmin. Whereas some systemic immune parameters like erythrocyte sedimentation rate (ESR) and antinuclear antibody (ANA) appeared unnormal. Moreover, the result of hepatic histology appeared representative PBC. All in all, her test results were unusual and prone to misdiagnosed. After considering all these results carefully and completely. The patient was confirmed diagnosed with AMA negative PBC. With the therapy of ursodeoxycholic acid and polyene phosphatidylcholine, the liver function profile has been increasingly improved. It reminded us in spite that AMA played an important role in PBC diagnose, we should pay attention to the AMA-negative, which usually acts as a puzzle and complicated case prone to misdiagnosis. Besides, we also reviewed the studies till date which containing etiology, characteries and prognosis of AMA-negative PBC, in order to learn more about this novel subtype.