Wilson's disease laboratory findings
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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.