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Pathology · Hepatic pathology: metabolic liver disease
Sample itemA 45-year-old man has diabetes, bronze skin pigmentation and hepatomegaly. A liver biopsy shows abundant hepatocyte pigment that stains blue with Perls stain. What is the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Hereditary haemochromatosis
Hereditary haemochromatosis, usually due to HFE C282Y homozygosity, causes iron overload with cirrhosis, diabetes, skin pigmentation, cardiomyopathy and hypogonadism, and raises the risk of hepatocellular carcinoma. Perls Prussian blue stain identifies haemosiderin.
Option by option
A. Hereditary haemochromatosis (correct)
Correct. Perls-positive iron deposition fits the picture.
B. Primary biliary cholangitis
Primary biliary cholangitis shows florid duct lesions and anti-mitochondrial antibodies.
C. Wilson disease
Wilson disease causes copper deposition, detected by rhodanine, with Kayser-Fleischer rings.
D. Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin deficiency shows PAS-positive, diastase-resistant globules.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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