Difference between revisions of "Wilson's disease"
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*Kayser-Fleischer rings --> on slit-lamp examination (green eyes). | *Kayser-Fleischer rings --> on slit-lamp examination (green eyes). | ||
*May present to psychiatry or appear to be abusing EtOH. | *May present to psychiatry or appear to be abusing EtOH. | ||
*Serum ceruloplasmin - lower than normal. | *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.<ref name=pmid18556333>Diagnostic accuracy of serum ceruloplasmin in Wilson disease: determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjects. Mak CM, Lam CW, Tam S. Clin Chem. 2008 Aug;54(8):1356-62. Epub 2008 Jun 12. PMID 18556333. URL: [http://www.clinchem.org/cgi/reprint/54/8/1356.pdf http://www.clinchem.org/cgi/reprint/54/8/1356.pdf]. Accessed on: 28 September 2009.</ref> | |||
Etiology: | Etiology: | ||
Revision as of 16:13, 14 September 2015
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).[1][2]
- Heterozygote carrier rate approximately 1/100 persons.[1]
- Young individuals - usually 12-23 years old.
- May have late-onset (symptomatic when >40 years old).[3]
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.[4]
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.[5]
Image
Additional testing
- Mass spectrometry - determine portion of copper.
See also
References
- ↑ 1.0 1.1 http://emedicine.medscape.com/article/183456-overview
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 606882
- ↑ Ferenci, P.; Członkowska, A.; Merle, U.; Ferenc, S.; Gromadzka, G.; Yurdaydin, C.; Vogel, W.; Bruha, R. et al. (Apr 2007). "Late-onset Wilson's disease.". Gastroenterology 132 (4): 1294-8. doi:10.1053/j.gastro.2007.02.057. PMID 17433323.
- ↑ Diagnostic accuracy of serum ceruloplasmin in Wilson disease: determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjects. Mak CM, Lam CW, Tam S. Clin Chem. 2008 Aug;54(8):1356-62. Epub 2008 Jun 12. PMID 18556333. URL: http://www.clinchem.org/cgi/reprint/54/8/1356.pdf. Accessed on: 28 September 2009.
- ↑ Miyamura H, Nakanuma Y, Kono N (December 1988). "Survey of copper granules in liver biopsy specimens from various liver abnormalities other than Wilson's disease and biliary diseases". Gastroenterol. Jpn. 23 (6): 633–8. PMID 2464523.