Wilson's disease

Synonyms:

a.k.a. hepatolenticular degeneration:

Diagnosis:

  • Slit lamp examination: Kayser Fleischer rings Golden Brown Corneal deposits
  • Neurological: wing-beathing tremor & facial dystonia (sardonic smile), cognitive deficits, neuorpsychiatirc symptoms
  • Ceruloplasmin: low, <20 mg/dL
  • 24 hr Urinary copper excretion: increased >100 micrograms

MRI:

  • T2: Increased signal (but variable) in striatum, Midbrain, Pons, dentate nucleus, white matter lesions
  • T1: usually bright signal

Genetics:

  • Autosomal recessive
  • ATP7B gene,

Pathology:

  • Alzheimer type 1 astrocytes (large abundant cytoplasm)
  • Oplaski cells in basal ganglia

Investigations to consider:

Blood tests: FBC, U&E, LFTs
Ceruloplasmin: low
Copper: low, 24 hr Urinary copper excretion: increased
Slit lamp examination
Liver biopsy: increased copper weight
MRI
Penicillamine challenge +urinary copper

Monitor:
  • FBC
  • Slit lamp examination
Screening:

1st line:

  • Slit lamp examination
  • Ceruloplasmin

2nd line:

  • Copper: low
  • Urinary copper excretion: increased

3rd line:

  • Consider Liver biopsy: copper

Treatment:

Genetic counselling
1st line:

  • D-Penicillamine oral monitor FBC +pyridoxine B6
  • Others:
    • Tetrathiomolybdate or trientine
    • Zinc sulfate P.O.

Restrict copper intake:

  • Shell fish, internal organs, legumes
  • Liver transplant

Screen siblings

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