Wilson's disease: Difference between revisions

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~~#redirect~~ [[~~Medical_liver_disease#~~Wilson.~~27s_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).<ref name=emedicine183456>[http://emedicine.medscape.com/article/183456-overview http://emedicine.medscape.com/article/183456-overview]</ref><ref name=omim606882>{{OMIM|606882}}</ref>

**Heterozygote carrier rate approximately 1/100 persons.<ref name=emedicine183456/>

*Young individuals - usually 12-23 years old.

**May have late-onset (symptomatic when >40 years old).<ref name=pmid17433323>{{Cite journal | last1 = Ferenci | first1 = P. | last2 = Członkowska | first2 = A. | last3 = Merle | first3 = U. | last4 = Ferenc | first4 = S. | last5 = Gromadzka | first5 = G. | last6 = Yurdaydin | first6 = C. | last7 = Vogel | first7 = W. | last8 = Bruha | first8 = R. | last9 = Schmidt | first9 = HT. | title = Late-onset Wilson's disease. | journal = Gastroenterology | volume = 132 | issue = 4 | pages = 1294-8 | month = Apr | year = 2007 | doi = 10.1053/j.gastro.2007.02.057 | PMID = 17433323 }}</ref>

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.<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:

*Excess copper -- due to genetic defect.

==Microscopic==

Features:

*Nothing specific - known as the great mimicker of [[liver pathology]].

*[[Steatosis of the liver|Steatosis]].

*Portal fibrosis.

A. [[File:1 Wilson 1 680x512px.tif|Inflamed & relatively unaffected segments (40X).]]

B. [[File:2 Wilson 1 680x512px.tif|Bile ductular proliferation with interface hepatitis [inflammation of periportal hepatocytes] (200X).]]

C. [[File:3 Wilson 1 680x512px.tif|Enlarged hepatocytes, some with feathery degeneration, others with steatosis. Nuclei show nucleoli (400X).]]

D. [[File:4 Wilson 1 680x512px.tif|Trichrome shows periportal & sinusoidal fibrosis. No bridging was seen. (100X).]]

Wilson’s disease, pre-cirrhotic. A. Inflamed & relatively unaffected segments. B. Bile ductular proliferation with interface hepatitis [inflammation of periportal hepatocytes]. C. Enlarged hepatocytes, some with feathery degeneration, others with steatosis. Nuclei show nucleoli. D. Trichrome shows periportal & sinusoidal fibrosis.

[[File:4 38555059990939 sl 1.png|Wilson’s disease with cirrhosis]]

[[File:4 38555059990939 sl 2.png|Wilson’s disease with cirrhosis]]

[[File:4 38555059990939 sl 3.png|Wilson’s disease with cirrhosis]]

[[File:4 38555059990939 sl 4.png|Wilson’s disease with cirrhosis]]

[[File:4 38555059990939 sl 5.png|Wilson’s disease with cirrhosis]]

Wilson’s disease with cirrhosis in a 22 year old woman. A. Nodules show steatosis without definite triads. B. Trichrome shows minute fibrous bound nodules in this case. C. Reticulin shows extensive regeneration (2-3 nuclei thick cords with lack of direction) with nodule formation. D. Bridge with extensive proliferated bile ductules and acute and chronic inflammatory cells. E. Ballooning degeneration with Mallory bodies.

==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.<ref name=pmid2464523>{{cite journal |author=Miyamura H, Nakanuma Y, Kono N |title=Survey of copper granules in liver biopsy specimens from various liver abnormalities other than Wilson's disease and biliary diseases |journal=Gastroenterol. Jpn. |volume=23 |issue=6 |pages=633–8 |year=1988 |month=December |pmid=2464523 |doi= |url=}}</ref>

===Image===

*[http://openi.nlm.nih.gov/legacy/detailedresult.php?img=3375662_yjbm_85_2_249_g03&req=4 Orecin staining in Wilson's diseae (nih.gov)].

==Additional testing==

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>

[[Sensitivity]]:<ref>{{Cite journal | last1 = Liggi | first1 = M. | last2 = Mais | first2 = C. | last3 = Demurtas | first3 = M. | last4 = Sorbello | first4 = O. | last5 = Demelia | first5 = E. | last6 = Civolani | first6 = A. | last7 = Demelia | first7 = L. | title = Uneven distribution of hepatic copper concentration and diagnostic value of double-sample biopsy in Wilson's disease. | journal = Scand J Gastroenterol | volume = 48 | issue = 12 | pages = 1452-8 | month = Dec | year = 2013 | doi = 10.3109/00365521.2013.845904 | PMID = 24164422 }}</ref>

*250 microg of copper/g of liver - 80-86% (value dependent on sampling).

*50 microg of copper/g of liver - 97%.

==See also==

*[[Medical liver disease]].

==References==

==External links==

*[https://www.lhsc.on.ca/lab/metals/req.htm Trace metals laboratory (lhsc.on.ca)].

[[Category:Medical liver disease]]

[[Category:Diagnosis]]

@@ Line 1: / Line 1: @@
-#redirect [[Medical_liver_disease#Wilson.27s_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).<ref name=emedicine183456>[http://emedicine.medscape.com/article/183456-overview http://emedicine.medscape.com/article/183456-overview]</ref><ref name=omim606882>{{OMIM|606882}}</ref>
+**Heterozygote carrier rate approximately 1/100 persons.<ref name=emedicine183456/>
+*Young individuals - usually 12-23 years old.
+**May have late-onset (symptomatic when >40 years old).<ref name=pmid17433323>{{Cite journal  | last1 = Ferenci | first1 = P. | last2 = Członkowska | first2 = A. | last3 = Merle | first3 = U. | last4 = Ferenc | first4 = S. | last5 = Gromadzka | first5 = G. | last6 = Yurdaydin | first6 = C. | last7 = Vogel | first7 = W. | last8 = Bruha | first8 = R. | last9 = Schmidt | first9 = HT. | title = Late-onset Wilson's disease. | journal = Gastroenterology | volume = 132 | issue = 4 | pages = 1294-8 | month = Apr | year = 2007 | doi = 10.1053/j.gastro.2007.02.057 | PMID = 17433323 }}</ref>
+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.<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:
+*Excess copper -- due to genetic defect.
+==Microscopic==
+Features:
+*Nothing specific - known as the great mimicker of [[liver pathology]].
+*[[Steatosis of the liver|Steatosis]].
+*Portal fibrosis.
+A. [[File:1 Wilson 1 680x512px.tif|Inflamed & relatively unaffected segments  (40X).]]<br>
+B. [[File:2 Wilson 1 680x512px.tif|Bile ductular proliferation with interface hepatitis [inflammation of periportal hepatocytes]  (200X).]]<br>
+C. [[File:3 Wilson 1 680x512px.tif|Enlarged hepatocytes, some with feathery degeneration, others with steatosis. Nuclei show nucleoli (400X).]]<br>
+D. [[File:4 Wilson 1 680x512px.tif|Trichrome shows periportal & sinusoidal fibrosis. No bridging was seen. (100X).]]<br>
+Wilson’s disease, pre-cirrhotic. A. Inflamed & relatively unaffected segments. B. Bile ductular proliferation with interface hepatitis [inflammation of periportal hepatocytes]. C. Enlarged hepatocytes, some with feathery degeneration, others with steatosis. Nuclei show nucleoli. D. Trichrome shows periportal & sinusoidal fibrosis.
+[[File:4 38555059990939 sl 1.png|Wilson’s disease with cirrhosis]]
+[[File:4 38555059990939 sl 2.png|Wilson’s disease with cirrhosis]]
+[[File:4 38555059990939 sl 3.png|Wilson’s disease with cirrhosis]]
+[[File:4 38555059990939 sl 4.png|Wilson’s disease with cirrhosis]]
+[[File:4 38555059990939 sl 5.png|Wilson’s disease with cirrhosis]] <br>
+Wilson’s disease with cirrhosis in a 22 year old woman. A. Nodules show steatosis without definite triads.  B. Trichrome shows minute fibrous bound nodules in this case. C. Reticulin shows extensive regeneration (2-3 nuclei thick cords with lack of direction) with nodule formation. D. Bridge with extensive proliferated bile ductules and acute and chronic inflammatory cells. E. Ballooning degeneration with Mallory bodies.
+==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.<ref name=pmid2464523>{{cite journal |author=Miyamura H, Nakanuma Y, Kono N |title=Survey of copper granules in liver biopsy specimens from various liver abnormalities other than Wilson's disease and biliary diseases |journal=Gastroenterol. Jpn. |volume=23 |issue=6 |pages=633–8 |year=1988 |month=December |pmid=2464523 |doi= |url=}}</ref>
+===Image===
+*[http://openi.nlm.nih.gov/legacy/detailedresult.php?img=3375662_yjbm_85_2_249_g03&req=4 Orecin staining in Wilson's diseae (nih.gov)].
+==Additional testing==
+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>
+[[Sensitivity]]:<ref>{{Cite journal  | last1 = Liggi | first1 = M. | last2 = Mais | first2 = C. | last3 = Demurtas | first3 = M. | last4 = Sorbello | first4 = O. | last5 = Demelia | first5 = E. | last6 = Civolani | first6 = A. | last7 = Demelia | first7 = L. | title = Uneven distribution of hepatic copper concentration and diagnostic value of double-sample biopsy in Wilson's disease. | journal = Scand J Gastroenterol | volume = 48 | issue = 12 | pages = 1452-8 | month = Dec | year = 2013 | doi = 10.3109/00365521.2013.845904 | PMID = 24164422 }}</ref>
+*250 microg of copper/g of liver - 80-86% (value dependent on sampling).
+*50 microg of copper/g of liver - 97%.
+==See also==
+*[[Medical liver disease]].
+==References==
+{{Reflist|2}}
+==External links==
+*[https://www.lhsc.on.ca/lab/metals/req.htm Trace metals laboratory (lhsc.on.ca)].
+[[Category:Medical liver disease]]
+[[Category:Diagnosis]]

Wilson's disease: Difference between revisions

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