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.
    This case report described a 53-year-old male who presented with gastrointestinal bleeding, initially suspected to be due to diverticulosis. However, further investigation revealed symptoms such as depression, joint pain, impotence, hair loss, and a bronze complexion, leading to a diagnosis of hereditary hemochromatosis (HH) due to a homozygous C282Y mutation in the HFE gene. The patient showed significant improvement with phlebotomy treatment. The report highlighted the importance of thorough history and physical examination in diagnosing HH, an autosomal recessive disease characterized by increased iron absorption due to decreased hepcidin. Early diagnosis and treatment can prevent complications like cirrhosis and hepatocellular carcinoma.
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