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

Differential Diagnosis

Hepatic dysfunction

Infectious

Neoplastic

Metabolic

Biliary

  • Biliary cirrhosis

Drugs

Miscellaneous

  • Veno-occlusive disease
  • CHF (right heart failure)

Neuro/psychiatric symptoms


Evaluation

  • 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
  • Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion


Management

  • Potent chelators: D-penicillamine (first-line), trientine (second-line), oral zinc
  • Low-copper diet
  • Screening for hepatocellular carcinoma (HCC) recommended but unclear association


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

Authors:

Claire