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Introduction <p>Metabolic dysfunction-associated steatotic liver disease (MASLD) is the most common chronic liver disorder worldwide. While MASLD is primarily associated with metabolic risk factors such as diabetes and obesity, the presence of autoimmune features and high-titre antinuclear antibodies (ANA) can complicate diagnosis and raise concern for autoimmune hepatitis (AIH) or connective tissue diseases.</p> Case Presentation <p>We present a case of 40-year-old woman with type 2 diabetes mellitus presented with right upper quadrant pain, progressive jaundice, fatigue, and systemic symptoms including dry mouth, joint pain, alopecia, and oral ulcers. Laboratory tests revealed liver dysfunction, normocytic anaemia, and hypertriglyceridemia. Autoimmune workup showed a high-titre ANA (&gt; 1:1280, homogenous pattern) and elevated Gp210 IgG, with a negative ENA profile. Imaging confirmed fatty liver with fibrosis (FibroScan: 13.7&#xa0;kPa). Liver biopsy demonstrated &gt; 90% macrovesicular steatosis, hepatocellular ballooning, Mallory-Denk bodies, and portal fibrosis—findings diagnostic of MASH, without features of autoimmune hepatitis.</p> Conclusion <p>This case underscores the diagnostic complexity when autoimmune features coexist with metabolic liver disease. It highlights the indispensable role of liver biopsy in distinguishing MASH from autoimmune liver disorders and emphasizes the need for a multidisciplinary approach. Recognition of this phenotype is important for guiding appropriate treatment and improving patient outcomes.</p>

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A Case Report of Metabolic Dysfunction-Associated Steatohepatitis (MASH) Presenting with High-Titre Anti-Nuclear Antibody and Systemic Autoimmune Features: Navigating Diagnostic Challenges in the Presence of Overlapping Phenotypes

  • 期刊论文

  • 发表日期：

    2025年9月6日

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  • Muhammad Faheem Iqbal,
  • Zunaira Nawaz,
  • Ali Aamir,
  • Naresh Kumar,
  • Niaha Karan Kumar

摘要

Introduction

Metabolic dysfunction-associated steatotic liver disease (MASLD) is the most common chronic liver disorder worldwide. While MASLD is primarily associated with metabolic risk factors such as diabetes and obesity, the presence of autoimmune features and high-titre antinuclear antibodies (ANA) can complicate diagnosis and raise concern for autoimmune hepatitis (AIH) or connective tissue diseases.

Case Presentation

We present a case of 40-year-old woman with type 2 diabetes mellitus presented with right upper quadrant pain, progressive jaundice, fatigue, and systemic symptoms including dry mouth, joint pain, alopecia, and oral ulcers. Laboratory tests revealed liver dysfunction, normocytic anaemia, and hypertriglyceridemia. Autoimmune workup showed a high-titre ANA (> 1:1280, homogenous pattern) and elevated Gp210 IgG, with a negative ENA profile. Imaging confirmed fatty liver with fibrosis (FibroScan: 13.7 kPa). Liver biopsy demonstrated > 90% macrovesicular steatosis, hepatocellular ballooning, Mallory-Denk bodies, and portal fibrosis—findings diagnostic of MASH, without features of autoimmune hepatitis.

Conclusion

This case underscores the diagnostic complexity when autoimmune features coexist with metabolic liver disease. It highlights the indispensable role of liver biopsy in distinguishing MASH from autoimmune liver disorders and emphasizes the need for a multidisciplinary approach. Recognition of this phenotype is important for guiding appropriate treatment and improving patient outcomes.