Abstract

WILSON'S DISEASE AND HEMOCHROMATOSIS: GENETIC LIVER DISORDERS AND METAL TOXICITY

Mr. Om Gunjal, Ms. Prerana Mahajan, Mr. Pruthwiraj Deshmukh, Dr. Aniket Garud, Dr. Bhagyashri Warude*

ABSTRACT

Wilson’s disease and hemochromatosis are two major hereditary metabolic liver disorders characterized by toxic accumulation of essential metals—copper and iron, respectively. Wilson’s disease results from ATP7B gene mutations that impair biliary copper excretion, leading to copper deposition in the liver, brain, and eyes, manifesting as hepatic dysfunction, neuropsychiatric symptoms, and the presence of Kayser–Fleischer rings. Hemochromatosis, most commonly caused by HFE gene mutations, leads to excessive intestinal absorption of iron, resulting in progressive iron overload affecting the liver, pancreas, heart, joints, and endocrine glands. Both disorders can cause severe organ damage, including cirrhosis, cardiomyopathy, diabetes, and neurological impairment if not recognized early. Diagnosis relies on biochemical markers, imaging, and genetic testing. Management includes chelation therapy and zinc supplementation for Wilson’s disease, whereas therapeutic phlebotomy remains the cornerstone of treatment for hemochromatosis. Early detection and lifelong monitoring significantly improve prognosis, highlighting the importance of clinical awareness and family screening. This article reviews the pathophysiology, clinical presentation, diagnosis, and management of both disorders to enhance understanding and promote effective patient care.

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