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Haemochromatosis and Wilson disease
Two inherited metabolic liver diseases: haemochromatosis is iron overload (transferrin saturation above 45% and high ferritin, HFE C282Y) treated with venesection; Wilson disease is copper overload (low ceruloplasmin, high urinary copper, Kayser-Fleischer rings) treated with copper chelators.
Why it matters in the exam
In haemochromatosis the question presents a middle-aged man with fatigue, pain in the second and third MCP joints, diabetes, dark skin, heart failure or impotence, and mildly raised liver enzymes. The first tests are transferrin saturation and ferritin, followed by HFE genetic testing. Ferritin above 1000 µg/L or raised liver enzymes raise suspicion of cirrhosis and call for fibrosis assessment. Treatment: weekly venesection until ferritin is 50–100 µg/L, then maintenance; iron and vitamin C supplements and raw shellfish (Vibrio vulnificus) are avoided, and first-degree relatives are tested.
In Wilson disease the question presents a young person (usually under 40) with liver disease and neurological or psychiatric symptoms — tremor, speech disturbance, behaviour change — and Kayser-Fleischer rings on slit-lamp examination. Diagnosis: a low ceruloplasmin (below 20 mg/dL) and 24-hour urinary copper above 100 µg. An acute form presents as liver failure with Coombs-negative haemolysis and an unexpectedly low ALP — and needs a transplant. Treatment: penicillamine or trientine, with zinc for maintenance or for patients without symptoms; siblings are tested.
Key points
- Haemochromatosis: transferrin saturation above 45%, high ferritin, HFE C282Y.
- Venesection until ferritin is 50–100 µg/L.
- Wilson: young person, liver and neurology, ceruloplasmin below 20 mg/dL, urinary copper above 100 µg.
- Kayser-Fleischer rings; treatment with penicillamine or trientine.
- Screen relatives in both diseases.
Summary table
| Disease | Clue | Tests | Treatment |
|---|---|---|---|
| Haemochromatosis | Middle-aged man, MCP 2–3, diabetes, dark skin, heart | Transferrin saturation above 45%, high ferritin, HFE C282Y | Venesection to ferritin 50–100 µg/L |
| Cirrhosis risk | Ferritin above 1000 µg/L or raised enzymes | Fibrosis assessment (elastography or biopsy) | HCC surveillance in cirrhosis |
| Wilson | Young person, liver + neurological or psychiatric | Ceruloplasmin below 20 mg/dL, urinary copper above 100 µg in 24 hours | Penicillamine or trientine; zinc for maintenance |
| Acute Wilson | Liver failure, Coombs-negative haemolysis, low ALP | Urgent referral | Liver transplant |
| Family screening | Both diseases are inherited | First-degree relatives; siblings in Wilson | Early treatment prevents damage |
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Sources
- EASL Clinical Practice Guidelines on haemochromatosis, 2022 — Diagnosis by transferrin saturation, ferritin and HFE; venesection
- AASLD Practice Guidance on Wilson disease, 2022 — Ceruloplasmin, urinary copper, Kayser-Fleischer rings and chelation
- Harrison's Principles of Internal Medicine, 21st edition (2022) — Hemochromatosis; Wilson's Disease
Sources are given for further reading; the text is written afresh and not copied from them.
Reviewed by the Examqo AI Professor · 2026-11-02. The text may contain errors; when in doubt, check the source.