SHM Converge Scientific Abstract ePoster Gallery-Drug-Induced Liver Injury Obscuring Hemochromatosis

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This case describes a 64-year-old man who presented with 7 days of jaundice and markedly abnormal liver tests after recently completing Augmentin and bicalutamide. His workup showed severe hyperbilirubinemia, elevated AST/ALT, and high alkaline phosphatase. Because infectious, autoimmune, and toxic causes were excluded, clinicians also considered iron overload after ferritin was found to be 3930.<br /><br />Although the acute picture initially suggested drug-induced liver injury, liver biopsy showed hepatic steatosis, cholestatic injury consistent with Augmentin-related DILI, and increased iron deposition in hepatocytes. HFE gene testing later revealed compound heterozygosity for C282Y and H63D, confirming hereditary hemochromatosis. His liver tests improved after stopping the offending drug, and he was discharged on hospital day 5.<br /><br />The report emphasizes that hereditary hemochromatosis can be missed when symptoms present abruptly or at an older age, especially when another acute liver injury such as DILI masks the diagnosis. Hemochromatosis is the most common autosomal recessive disorder in people of European ancestry, and the C282Y mutation accounts for most cases. While many heterozygous patients remain asymptomatic, risk of clinically significant iron overload rises with additional factors such as steatosis, diabetes, and alcohol use.<br /><br />Key takeaways are to include hemochromatosis in the differential diagnosis of jaundice and elevated liver enzymes, and to pursue liver biopsy plus HFE testing when common infectious, autoimmune, and toxic causes have been ruled out. Earlier diagnosis can help patients reduce iron burden, obtain family screening, and lower the risk of cirrhosis, liver cancer, and other late complications.

Asset Subtitle

Sukanya Roy

Meta Tag

Author List Jayshree Thomas, Kasiemobi Okonkwo, Quratulanne Jan, Sukanya Roy

Category Clinical Vignettes

Concept Hemochromatosis

Concept Differential Diagnosis

Concept HFE Gene Testing

Concept Jaundice

Concept Liver Function Tests

Distinguished Non-Finalist

Presenter Organization Utmb

Presenting Author Sukanya Roy

Track Adult

Keywords

hemochromatosis

jaundice

drug-induced liver injury

Augmentin

bicalutamide

hyperbilirubinemia

ferritin

liver biopsy

HFE gene

iron overload

Hemochromatosis

Differential Diagnosis

HFE Gene Testing

Jaundice

Liver Function Tests