Wilson's disease laboratory findings

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [3]

Overview

Laboratory findings suggestive for Wilson’s disease include low ceruloplasmin level, high serum copper concentration and high urinary excretion of the copper.

Laboratory findings

Laboratory tests are important in cases presenting with impaired liver functions and neurological impairment which increase suspicion against Wilson’s disease.
Liver function tests show nonspecific increase of the liver enzymes aspartate transaminase and alanine transaminase. The bilirubin is elevated as well.
The following laboratory test are recommended to diagnose Wilson’s disease:^[1]^[2]
- Ceruloplasmin level
- Serum copper concentration
- Urinary excretion of the copper (24hr monitoring)

Ceruloplasmin level

Most of the patients with Wilson’s disease will show a low serum level of ceruloplasmin (less than 20mg/dl). However, low ceruloplasmin level only is not sufficient for provisional diagnosis of Wilson’s disease.
Low ceruloplasmin level in patients whose examination shows Kayser-Fleischer ring and neurologic manifestations is diagnostic for Wilson’s disease.

Serum copper concentration

Patients with Wilson’s disease will have high level of total body concentration of the copper regardless the copper overload.

Urinary excretion of the copper

In patients suspected with Wilson’s disease, the urine should be collected for 24 hours in order to be examined for the copper concentration.
Copper level in urine more than 100 μg/24h is suggestive for Wilson’s disease. However, it is not specific for Wilson’s disease and may be elevated in other diseases as autoimmune hepatitis and cholestasis.

Liver function testing

In patients with Wilson’s disease, liver function testing will be abnormal. This includes AST, ALT, total bilirubin, and alkaline phosphatase.

References

↑ Roberts EA, Schilsky ML, Division of Gastroenterology and Nutrition, Hospital for Sick Children, Toronto, Ontario, Canada (2003). “A practice guideline on Wilson disease”. Hepatology. 37 (6): 1475–92. doi:10.1053/jhep.2003.50252. PMID 12774027.
↑ Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD (1995). “Aceruloplasminemia: molecular characterization of this disorder of iron metabolism”. Proc Natl Acad Sci U S A. 92 (7): 2539–43. PMC 42253. PMID 7708681.

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[pmid12774027-1] Roberts EA, Schilsky ML, Division of Gastroenterology and Nutrition, Hospital for Sick Children, Toronto, Ontario, Canada (2003). “A practice guideline on Wilson disease”. Hepatology. 37 (6): 1475–92. doi:10.1053/jhep.2003.50252. PMID 12774027.

[pmid7708681-2] Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD (1995). “Aceruloplasminemia: molecular characterization of this disorder of iron metabolism”. Proc Natl Acad Sci U S A. 92 (7): 2539–43. PMC 42253. PMID 7708681.

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