Pathology - Hemochromatosis
Primary hemochromatosis is an autosomal recessive disorder caused by a mutation on chromosome 6 that leads to increased iron absorption in the intestinal mucosa. It is linked to HLA-A3. Prevalent among individuals of northern European descent, typically manifesting after the age of 30. Secondary hemochromatosis is an acquired condition resulting from prolonged transfusion therapy together with inefficient erythropoiesis. It is observed in cases of thalassemia major and iron overload disorders. Iron accumulation as hemosiderin in liver, pancreas, heart, adrenals, testes, pituitary, kidneys, and skin. Pathology Hepatic: Gross: sizable; dark brown; micronodular. Microscopic: buildup of hemosiderin in liver cells starting in periportal hepatocytes, leading to cirrhosis over time. The classic trio consists of cirrhosis, diabetes, and skin darkening known as bronze diabetes. Other associated symptoms include arthropathy, hepatomegaly, and restrictive cardiomyopathy. Complications involve a higher likelihood of infection with Vibrio vulnificus, Listeria, and other iron-dependent pathogens, as well as an increased risk of hepatocellular cancer. Laboratory results show slightly raised liver function tests, higher blood iron levels, lower total iron-binding capacity, and transferrin saturation exceeding 80%. The serum ferritin level is greater than 1000 ug/L. Administer weekly phlebotomy and deferoxamine treatment while following a low-iron diet. Screening first-degree relatives of patients with primary hemochromatosis
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