
Pathology MCQs
February 12, 2025 at 10:22 AM
Correct answer is : Hereditary hemochromatosis (HH). It is an autosomal recessive disorder characterized by increased iron absorption and deposition, primarily affecting the liver, pancreas, and skin, leading to cirrhosis, diabetes, and bronze pigmentation (“bronze diabetes”).
✅The most common mutation associated with HH is *C282Y in the HFE gene*, responsible for 85-90% of hereditary hemochromatosis cases in Northern European populations.
✅The H63D mutation is less common and is associated with a milder form of iron overload, often asymptomatic unless found in compound heterozygous form (C282Y/H63D).
✅Mutations in the HJV gene lead to an altered hemojuvelin protein that cannot function properly. Without adequate hemojuvelin, hepcidin levels are reduced and iron homeostasis is disturbed- resulting in hereditary hemochromatosis type 2.
✅The ATP7B mutation is associated with Wilson’s disease, a disorder of copper metabolism.
Histopathology of Hereditary Hemochromatosis (H&E Findings in Liver Biopsy):
➡️Iron deposition: Brownish granular hemosiderin pigment within hepatocytes (Perl’s Prussian blue stain confirms iron).
➡️Zone 1 hepatocyte involvement: Iron accumulates first in periportal hepatocytes, progressing to the rest of the liver.
➡️Fibrosis and cirrhosis: Advanced cases show bridging fibrosis leading to cirrhosis.
➡️Absence of inflammation: Unlike other liver diseases, HH does not have significant inflammatory infiltration.
Reference: MacSween’s Pathology of the Liver, 8th Edition
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