Difference between revisions of "Wilson's disease"

From Libre Pathology
Jump to navigation Jump to search
Line 34: Line 34:


==Additional testing==
==Additional testing==
*Mass spectrometry - determine portion of copper.
Copper quantification:
*Mass spectrometry.<ref name=pmid24731025>{{Cite journal  | last1 = Hahn | first1 = SH. | title = Population screening for Wilson's disease. | journal = Ann N Y Acad Sci | volume = 1315 | issue =  | pages = 64-9 | month = May | year = 2014 | doi = 10.1111/nyas.12423 | PMID = 24731025 }}</ref>
*Atomic absorption spectroscopy.
**>250 microg of copper/g of liver suggest Wilson's disease; below does not exclude it.<ref name=pmid16234011>{{Cite journal  | last1 = Ferenci | first1 = P. | last2 = Steindl-Munda | first2 = P. | last3 = Vogel | first3 = W. | last4 = Jessner | first4 = W. | last5 = Gschwantler | first5 = M. | last6 = Stauber | first6 = R. | last7 = Datz | first7 = C. | last8 = Hackl | first8 = F. | last9 = Wrba | first9 = F. | title = Diagnostic value of quantitative hepatic copper determination in patients with Wilson's Disease. | journal = Clin Gastroenterol Hepatol | volume = 3 | issue = 8 | pages = 811-8 | month = Aug | year = 2005 | doi =  | PMID = 16234011 }}</ref>


==See also==
==See also==

Revision as of 18:05, 23 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:

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

Copper quantification:

  • Mass spectrometry.[6]
  • Atomic absorption spectroscopy.
    • >250 microg of copper/g of liver suggest Wilson's disease; below does not exclude it.[7]

See also

References

  1. 1.0 1.1 http://emedicine.medscape.com/article/183456-overview
  2. Online 'Mendelian Inheritance in Man' (OMIM) 606882
  3. 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.
  4. 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.
  5. 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.
  6. Hahn, SH. (May 2014). "Population screening for Wilson's disease.". Ann N Y Acad Sci 1315: 64-9. doi:10.1111/nyas.12423. PMID 24731025.
  7. Ferenci, P.; Steindl-Munda, P.; Vogel, W.; Jessner, W.; Gschwantler, M.; Stauber, R.; Datz, C.; Hackl, F. et al. (Aug 2005). "Diagnostic value of quantitative hepatic copper determination in patients with Wilson's Disease.". Clin Gastroenterol Hepatol 3 (8): 811-8. PMID 16234011.

External links