Wilson’s Disease or Hepatolenticular Degeneration is an autosomal recessive inherited disorder that causes increased accumulation of copper in organs.
The typical sign of Kayser Fleischer Rings is very well pronounced as it appears as Rings at the edges of the cornea. It is one of the disorders one must be familiar with when reading Gastromedicine, apart from Hemochromatosis.
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Physiology
- Total body copper content is ~125mg. Intake ≈ 3mg/day (absorbed in the proximal small intestine). In the liver, copper is incorporated into ceruloplasmin.
Presentation
- Kayser Fleischer Rings
- Liver dysfunction- deranged liver function tests, cirrhosis
- Behavioral- Personality changes with reduced performance
- Neurological- Ataxia, dysarthria, dystonia
- Azure Lunulae: Blue Nails, Haemolysis, Arthritis, Hypermobile joints, Grey Skin
Investigations
- Urine: 24h copper excretion is high, e.g >100mcg/24h (normal <40mcg)
- Increased LFT: non-specific (but ALT >1500 is not part of the picture)
- Serum copper: typically <11μmol/L
- Decreased Serum ceruloplasmin: <200mg/L (<140mg/L is pathognomonic)—beware incidental low values in protein-deficiency states (e.g nephrotic syndrome, malabsorption)
- Molecular genetic testing can confirm the diagnosis
- Slit lamp exam: Kayser Fleischer rings: in iris/Descemet’s membrane
- Liver biopsy: Increased Hepatic copper (copper >250mcg/g dry weight); hepatitis; cirrhosis
- MRI: degeneration in basal ganglia, frontotemporal, cerebellar, and brainstem
More about Kayser Fleischer Rings
- The Kayser-Fleischer Rings consist of copper deposits at the periphery where the cornea meets the sclera, Descemet’s membrane, first appears as a crescent at the top of the cornea. Eventually, a second crescent forms below, at the “six o’clock position”, and ultimately completely encircles the cornea.
- Other causes of KF Rings are Cholestasis (Obstruction of the bile ducts), Primary Biliary Cirrhosis, and Cryptogenic Cirrhosis
- Diagnosis of KF Rings is usually done by Slit lamp examination. They become visible to the naked eye in later stages. Diagnosis of KF Rings is usually done by Slit lamp examination. They become visible to the naked eye in later stages.
Treatment
- Avoid foods with high copper content (eg liver, chocolate, nuts, mushrooms, legumes, and shellfish).
- Lifelong Penicillamine (500mg/6–8h PO for 1yr, maintenance 0.75–1g/d)
- In Acute Liver Failure or Cirrhosis- Liver Transplant
Summary
- Grey Skin, Serum Ceruloplasmin <140, Urine copper excretion >100mcg/24hr and Kayser Fleischer Rings in eyes; Rx- Lifelong Penicillamine