Alcoholic hepatitis in a patient with undiagnosed hemochromatosis. A case report

Background: Alcoholic hepatitis (AH) is an acute inflammatory liver condition triggered by excessive alcohol intake, often superimposed on chronic liver disease. Hereditary hemochromatosis (HH) is a genetic disorder characterized by systemic iron overload due to hepcidin deficiency, which can lead to cirrhosis and hepatocellular carcinoma. While both entities are independently well-described, their coexistence presents a unique diagnostic and therapeutic challenge. We describe the case of a 25-year-old male admitted with jaundice, fatigue, and oral intolerance following alcohol consumption. He had a history of childhood liver abnormalities and ongoing heavy alcohol use. Initial laboratory findings revealed marked hypertransaminasemia (ALT 3545 U/L, AST 1837 U/L), direct hyperbilirubinemia (12 mg/dL), and a hepatocellular injury pattern (R factor 22.2). Infectious, autoimmune, and vascular causes were excluded. A Maddrey score of 32.4 supported the diagnosis of severe AH and prompted corticosteroid therapy, with an excellent response confirmed by a Lille score of 0.001 at day 7. Despite improvement, persistent hyperferritinemia (>1000 ng/mL) suggested iron overload. Liver biopsy showed iron-laden hepatocytes with positive Perls staining, consistent with hepatic hemochromatosis. Phlebotomy led to a marked reduction in liver enzymes and symptomatic improvement. The patient was discharged with dietary and pharmacological recommendations, but subsequently discontinued follow-up. This case highlights the importance of considering coexisting hepatic disorders in young patients with atypical or severe liver presentations. The coexistence of AH and HH may produce synergistic hepatotoxicity, accelerating fibrosis. Liver biopsy proved critical for etiologic clarification, allowing targeted therapy and reinforcing the need for comprehensive evaluation in similar scenarios. Keywords: Alcoholic hepatitis, hemochromatosis, liver function tests.

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-08-03
DOI
https://doi.org/10.5281/zenodo.16732013
Primary Topic
Iron Metabolism and Disorders
Type
article
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article

Alcoholic hepatitis in a patient with undiagnosed hemochromatosis. A case report

Zenodo (CERN European Organization for Nuclear Research)
Iron Metabolism and Disorders
article

Alcoholic hepatitis in a patient with undiagnosed hemochromatosis. A case report

article en

Abstract

Background: Alcoholic hepatitis (AH) is an acute inflammatory liver condition triggered by excessive alcohol intake, often superimposed on chronic liver disease. Hereditary hemochromatosis (HH) is a genetic disorder characterized by systemic iron overload due to hepcidin deficiency, which can lead to cirrhosis and hepatocellular carcinoma. While both entities are independently well-described, their coexistence presents a unique diagnostic and therapeutic challenge. We describe the case of a 25-year-old male admitted with jaundice, fatigue, and oral intolerance following alcohol consumption. He had a history of childhood liver abnormalities and ongoing heavy alcohol use. Initial laboratory findings revealed marked hypertransaminasemia (ALT 3545 U/L, AST 1837 U/L), direct hyperbilirubinemia (12 mg/dL), and a hepatocellular injury pattern (R factor 22.2). Infectious, autoimmune, and vascular causes were excluded. A Maddrey score of 32.4 supported the diagnosis of severe AH and prompted corticosteroid therapy, with an excellent response confirmed by a Lille score of 0.001 at day 7. Despite improvement, persistent hyperferritinemia (>1000 ng/mL) suggested iron overload. Liver biopsy showed iron-laden hepatocytes with positive Perls staining, consistent with hepatic hemochromatosis. Phlebotomy led to a marked reduction in liver enzymes and symptomatic improvement. The patient was discharged with dietary and pharmacological recommendations, but subsequently discontinued follow-up. This case highlights the importance of considering coexisting hepatic disorders in young patients with atypical or severe liver presentations. The coexistence of AH and HH may produce synergistic hepatotoxicity, accelerating fibrosis. Liver biopsy proved critical for etiologic clarification, allowing targeted therapy and reinforcing the need for comprehensive evaluation in similar scenarios. Keywords: Alcoholic hepatitis, hemochromatosis, liver function tests.

Zenodo (CERN European Organization for Nuclear Research)
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Iron Metabolism and Disorders
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Alcoholic hepatitis in a patient with undiagnosed hemochromatosis. A case report · Zenodo (CERN European Organization for Nuclear Research) (2025) | TGRS Research Map | TGRS