Wilson's disease

Wilson disease's is a rare autosomal recessive genetic disease characterized by abnormal copper transportation. Its' presentation may be atypical. In the context of pathology, it is typically seen as a liver biopsy.

General

Epidemiology:

• Rare autosomal recessive - mutation in copper-transporting adenosine triphosphatase (ATPase) gene (ATP7B).
  • Heterozygote carrier rate approximately 1/100 persons.
• Young individuals - usually 12-23 years old.
  • May have late-onset (symptomatic when >40 years old).

Clinical:

• Kayser-Fleischer rings --> on slit-lamp examination (green eyes).
• May present to psychiatry or appear to be abusing EtOH.
• Serum ceruloplasmin - lower than normal; typical value for Wilson's ~ 0.12 g/L.
  • <0.20 g/L is a criteria for Wilson's disease.

Etiology:

• Excess copper -- due to genetic defect.

Microscopic

Features:

• Nothing specific - known as the great mimicker of liver pathology.
• Steatosis.
• Portal fibrosis.

Stains

• Copper staining positive - only 15% of cases.
  • Other stains: rhodinine (red/orange granules = positive), orecin.

Notes:

• Copper staining is a non-specific finding seen in many liver diseases; it is associated with impaired bile secretion.

Image

• Orecin staining in Wilson's diseae (nih.gov).

Additional testing

Copper quantification:

• Mass spectrometry.
• Atomic absorption spectroscopy.
  • >250 microg of copper/g of liver suggest Wilson's disease; below does not exclude it.

See also

• Medical liver disease.

External links

• Trace metals laboratory (lhsc.on.ca).