Hemochromatosis vs Wilson disease
How to tell Hemochromatosis and Wilson disease apart when a board question makes them look alike.
Iron overload with bronze diabetes points hemochromatosis; copper with neurologic or corneal clues points Wilson disease.
Side by side
Iron overload with cirrhosis, diabetes, bronze skin, cardiomyopathy, arthropathy, high ferritin, and high transferrin saturation.
Copper accumulation with hepatic disease, neuropsychiatric changes, movement disorder, low ceruloplasmin, and Kayser-Fleischer rings.
Low hepcidin signaling increases intestinal iron absorption and deposits iron in liver, pancreas, heart, joints, and skin.
ATP7B dysfunction impairs biliary copper excretion and copper incorporation into ceruloplasmin, allowing copper to accumulate in liver, brain, and cornea.
High transferrin saturation, high ferritin, HFE association, and iron deposition support hemochromatosis.
Low ceruloplasmin, increased urinary copper, Kayser-Fleischer rings, and basal ganglia/neuropsychiatric clues support Wilson disease.
The trap
Both can cause liver disease, so the metal pattern and extrahepatic organ clues separate them.
Watch it explained
Test it nowThe repair move
For inherited metal liver disease, decide whether the story is iron overload or copper accumulation.
Try a free question
CoreA patient has cirrhosis, diabetes, bronze skin, cardiomyopathy, high ferritin, and high transferrin saturation. Which inherited liver disease is most likely?
Show answer and explanation
Answer: A. Hemochromatosis. Iron overload with high transferrin saturation, diabetes, bronze skin, cardiomyopathy, and cirrhosis points to hemochromatosis.
Why the other choices are tempting
- B. Wilson disease causes copper accumulation with neurologic/psychiatric findings and Kayser-Fleischer rings.
- C. Alpha-1 antitrypsin deficiency causes PAS-positive globules, neonatal/adult liver disease, and panacinar emphysema.
- D. Primary biliary cholangitis is autoimmune intrahepatic bile duct disease.
- E. Autoimmune hepatitis has autoantibodies and hypergammaglobulinemia.
Flashcards
Tap a card to flip it.
What lab pattern favors hemochromatosis?
High ferritin plus high transferrin saturation supports iron overload.
What neuro-ophthalmic clue favors Wilson disease?
Movement or psychiatric symptoms with Kayser-Fleischer rings points to copper accumulation.
Quick answers
What is the fastest way to tell Hemochromatosis from Wilson disease?
Iron overload with bronze diabetes points hemochromatosis; copper with neurologic or corneal clues points Wilson disease.
What is the key clue for Hemochromatosis?
Iron overload with cirrhosis, diabetes, bronze skin, cardiomyopathy, arthropathy, high ferritin, and high transferrin saturation.
What is the key clue for Wilson disease?
Copper accumulation with hepatic disease, neuropsychiatric changes, movement disorder, low ceruloplasmin, and Kayser-Fleischer rings.
What is the common trap with Hemochromatosis vs Wilson disease?
Both can cause liver disease, so the metal pattern and extrahepatic organ clues separate them.