• Claudia Oana Cobilinschi, Ioana Săulescu, Simona Caraiola, Andra Florina Nițu, Radu Lucian Dumitru, Ioana Husar-Sburlan, Andra Rodica Bălănescu, and Daniela Opriș-Belinski.
• Department of Rheumatology and Internal Medicine, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
• Medicina (Kaunas). 2023 Sep 1; 59 (9).

AbstractHemochromatosis is a genetic disorder characterized by increased iron storage in various organs with progressive multisystemic damage. Despite the reports dating back to 1865, the diagnosis of hemochromatosis poses a challenge to clinicians due to its non-specific symptoms and indolent course causing significant delay in disease recognition. The key organ that is affected by iron overload is the liver, suffering from fibrosis, cirrhosis or hepatocellular carcinoma, complications that can be prevented via early diagnosis and treatment. This review aims to draw attention to the pitfalls in diagnosing hemochromatosis. We present a case with multiorgan complaints, abnormal iron markers and a consistent genetic result. We then examine the relevant literature and discuss hemochromatosis subtypes and liver involvement, including transplant outcome and treatment options. In summary, hemochromatosis remains difficult to diagnose due to its symptom heterogeneity and rarity; thus, further education for practitioners of all disciplines is useful in facilitating its early recognition and management.

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