Wilson's disease

Background

  • Autosomal recessive
  • Impairment of biliary cellular copper excretion with accumulation in organs (mostly liver, brain, cornea)
  • Liver becomes cirrhotic with ~5% developing liver failure

Clinical Features

Under slit-lamp test, Kayser-Fleischer ring is evident around the border of cornea (arrow).
Another example of Kayser–Fleischer ring (brown ring on the edge of the iris).
Copper deposition on corneal Descemet's membrane on slit lamp exam.

Differential Diagnosis

Hepatic Dysfunction

Infectious

Neoplastic

Metabolic

Biliary

  • Biliary cirrhosis

Drugs

Miscellaneous

Neuro/psychiatric symptoms

Evaluation

Workup

  • LFTs to assess ALT/AST
  • CBC to assess for anemia (followed by testing for Coombs-negative hemolytic anemia)
  • Ocular slit-lamp to assess for Kayser-Flesicher rings

Diagnosis

  • Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion +/- genetic testing can be done to confirm diagnosis

Management

  • Potent chelators: D-penicillamine (first-line), trientine (second-line), oral zinc
  • Low-copper diet

Disposition

  • Hepatology consult should be made for follow up
    • Screening for hepatocellular carcinoma (HCC) recommended but unclear association

See Also

External Links

References

  1. Lorincz MT. Neurologic Wilson's disease. Ann N Y Acad Sci 2010; 1184:173.
  2. Gollan JL, Gollan TJ. Wilson disease in 1998: genetic, diagnostic and therapeutic aspects. J Hepatol 1998; 28 Suppl 1:28.
  3. Soltanzadeh A, Soltanzadeh P, Nafissi S, et al. Wilson's disease: a great masquerader. Eur Neurol 2007; 57:80.
  4. Stremmel W, Meyerrose KW, Niederau C, et al. Wilson disease: clinical presentation, treatment, and survival. Ann Intern Med 1991; 115:720.
  1. Tintanelli's