Mount Sinai Beth Israel Medical Center New York, NY, United States
Gres Karim, MD1, Sanjana Luther, MD2, Huifang Zhou, MD3, Ian Cohen, MD1 1Mount Sinai Beth Israel Medical Center, New York, NY; 2Mount Sinai Morningside and Mount Sinai West/Mount Sinai Beth Israel Medical Center, New York, NY; 3Icahn School of Medicine at Mount Sinai, Mount Sinai Hospital, New York, NY
Introduction: Autoimmune hepatitis-Primary biliary cholangitis (AIH-PBC) overlap syndrome is supported by serologic and/or histologic features. The Paris criteria have been developed for the diagnosis of AIH-PBC overlap syndrome. There is no consensus regarding the role of imaging thus serologic and histologic findings are necessary and lack of a definitive diagnosis may delay treatment. We present a case of AIH-PBC overlap syndrome confirmed by liver biopsy, initially with incongruent findings on MRI and elastography.
Case Description/Methods: A 53-year-old woman presented for evaluation of elevated liver tests. Medical history included atrial fibrillation and current medications were Eliquis and metoprolol. The patient did not report alcohol use or other hepatotoxins. Physical exam was unremarkable for jaundice, icterus, or abdominal pain. Laboratory studies revealed ALT/AST/ALP/GGT of 162/128/379/270, respectively. Bilirubin and INR were normal. Given the uncertain etiology, further workup was obtained. Hepatitis serologies showed HAV and HBV non-immunity with Twinrix vaccination underway and a negative HCV antibody. Antinuclear antibodies (ANA) were elevated in a 1:1280 nuclear membrane pattern, suggestive of PBC. IgG was elevated to 1978 mg/dL, suggestive of AIH. Additional laboratory workup was noncontributory. MRI displayed mild hepatomegaly, a 9.2% hepatic fat fraction, hemangioma, and a lesion suggestive of focal nodular hyperplasia. Vasculature was patent and there were no findings of portal hypertension. Elastography revealed a controlled attenuation parameter score of 308 dB/m and stiffness of 17 kiloPascal, consistent with advanced fibrosis. Due to this incongruence between imaging and elastography, and elevated ANA and IgG levels liver biopsy was obtained. Biopsy was consistent with AIH-PBC overlap syndrome. Treatment focused on the predominant pattern of PBC and ursodiol 13-15 mg/kg/daily was initiated.
Discussion: Accurate and timely diagnosis of AIH-PBC overlap syndrome is crucial in preventing disease progression. Diagnosis is based on autoimmune markers and elevated liver tests, with liver biopsy as the gold standard. Although both MRI and elastography may have a role for non-invasive evaluation, our case displays the need for laboratory evaluation and biopsy to confirm the diagnosis. If laboratory and imaging evaluations are non-unifying, biopsy should not be delayed to facilitate accurate and early management of the disease.
Figure: Figure 1: A. Liver biopsy with H&E stain demonstrating mild to moderate lymphoplasmacellular inflammation in portal tracts with damaged bile ducts (florid duct lesions), focal ductular reaction, and bile duct loss, suggestive of PBC. B. Trichrome stain demonstrating dense periportal and sinusoidal fibrosis with non-bridging fibrous septa, suggestive of AIH.
Paris criteria for AIH-PBC overlap syndrome diagnosis
AIH criteria: Require 2 of 3:
1. Serum ALT ≥5-fold upper normal limit 2. IgG ≥2-fold upper normal limit or presence of anti-smooth muscle antibodies 3. Moderate or severe periportal or periseptal lymphocytic piecemeal necrosis (interface hepatitis)
PBC criteria: Require 2 of 3
1. Serum ALP ≥2-fold upper normal limit or γ-glutamyl transferase (GGT) level ≥5-fold upper normal limit 2. Presence of anti-mitochondrial antibodies 3. Florid duct lesions or destructive cholangitis on histology
Require 2 of 3 features associated with AIH and PBC. Paris criteria have been used with a sensitivity of 92% and specificity of 97%.
Table: Table 1: Paris criteria for AIH-PBC overlap syndrome diagnosis.
Disclosures: Gres Karim indicated no relevant financial relationships. Sanjana Luther indicated no relevant financial relationships. Huifang Zhou indicated no relevant financial relationships. Ian Cohen indicated no relevant financial relationships.
Gres Karim, MD1, Sanjana Luther, MD2, Huifang Zhou, MD3, Ian Cohen, MD1. P0819 - Autoimmune Hepatitis, Primary Biliary Cholangitis or Overlap? A Case Beyond the Single Diagnosis, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.
