Gastrointestinal Bleed Leading to Discovery of Hereditary Hemochromatosis

    October 2020 in “ The American Journal of Gastroenterology ”
    Sara Ashraf, Mohamed Alsharedi
    TLDR Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
    A 53-year-old male presented with gastrointestinal bleeding, initially attributed to diverticulosis, but further investigation revealed hereditary hemochromatosis (HH) due to a homozygous C282Y mutation in the HFE gene. The patient exhibited symptoms such as depression, joint pain, impotence, hair loss, and a bronze complexion, alongside laboratory findings of elevated iron saturation and ferritin levels. Treatment with phlebotomies led to significant improvement in symptoms and iron levels, preventing the progression to liver cirrhosis. This case highlighted the importance of thorough history and physical examination in diagnosing HH, a genetic disorder characterized by excessive iron absorption due to decreased hepcidin levels. Early diagnosis and treatment are crucial to prevent complications like cirrhosis and hepatocellular carcinoma.
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