A Challenging Diagnosis of Liver Disease in a Young Adult: A Case Report of Hemochromatosis vs. Wilson Disease
Speaker Credentials
MS-III
College
College of Allopathic Medicine
Medical Specialty
Internal Medicine
Format
Poster
Start Date
November 2024
End Date
November 2024
Track
2
Abstract
Introduction: Liver cirrhosis is uncommon in young patients, even in the setting of alcohol abuse. Hereditary hemochromatosis and Wilson disease, autosomal recessive disorders affecting metal transport, have overlapping presentations and life-threatening complications. Accurate differentiation between these disorders is crucial to management. Case Presentation: A 34-year-old homeless male with a history of intermittent alcohol abuse presented with worsening lower extremity and testicular edema. He was previously diagnosed with spontaneous bacterial peritonitis and alcohol-induced cirrhosis. Physical exam revealed abdominal distention, hepatomegaly, and significant lower extremity edema. Labs were significant for elevated LFTs and macrocytic anemia. Additional investigation based on an increasing suspicion for Wilson's disease or Hereditary Hemochromatosis yielded abnormal iron and copper studies as well as fibrosis and intrahepatic iron on liver biopsy. The working diagnosis of Hemochromatosis was accepted, and treatment was begun. Deviation From Expected: Although the initial diagnosis was alcohol-induced cirrhosis, significant iron overload and low ceruloplasmin prompted reconsideration, leading to a revised diagnosis of hemochromatosis. This shift highlights the importance of thorough investigation beyond initial impressions. Discussion: This case demonstrates the appropriate differentiation between alcoholic liver disease, hemochromatosis, and Wilson disease, all of which can present with cirrhosis. Despite overlapping features, each disorder has a unique pathophysiology. Misdiagnosis can lead to inappropriate management and worse outcomes, especially in patients with complex social backgrounds. Conclusion: Accurate diagnosis of liver disease in young patients requires a thorough workup and broad differentials. Early identification of rare conditions like hemochromatosis is vital for appropriate treatment and management, ultimately improving patient outcomes.
A Challenging Diagnosis of Liver Disease in a Young Adult: A Case Report of Hemochromatosis vs. Wilson Disease
Introduction: Liver cirrhosis is uncommon in young patients, even in the setting of alcohol abuse. Hereditary hemochromatosis and Wilson disease, autosomal recessive disorders affecting metal transport, have overlapping presentations and life-threatening complications. Accurate differentiation between these disorders is crucial to management. Case Presentation: A 34-year-old homeless male with a history of intermittent alcohol abuse presented with worsening lower extremity and testicular edema. He was previously diagnosed with spontaneous bacterial peritonitis and alcohol-induced cirrhosis. Physical exam revealed abdominal distention, hepatomegaly, and significant lower extremity edema. Labs were significant for elevated LFTs and macrocytic anemia. Additional investigation based on an increasing suspicion for Wilson's disease or Hereditary Hemochromatosis yielded abnormal iron and copper studies as well as fibrosis and intrahepatic iron on liver biopsy. The working diagnosis of Hemochromatosis was accepted, and treatment was begun. Deviation From Expected: Although the initial diagnosis was alcohol-induced cirrhosis, significant iron overload and low ceruloplasmin prompted reconsideration, leading to a revised diagnosis of hemochromatosis. This shift highlights the importance of thorough investigation beyond initial impressions. Discussion: This case demonstrates the appropriate differentiation between alcoholic liver disease, hemochromatosis, and Wilson disease, all of which can present with cirrhosis. Despite overlapping features, each disorder has a unique pathophysiology. Misdiagnosis can lead to inappropriate management and worse outcomes, especially in patients with complex social backgrounds. Conclusion: Accurate diagnosis of liver disease in young patients requires a thorough workup and broad differentials. Early identification of rare conditions like hemochromatosis is vital for appropriate treatment and management, ultimately improving patient outcomes.