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Last edited on February 18, 2022

This shows you the differences between two versions of the page.

--- cl:wilsons-disease [on September 15, 2018]
+++ cl:wilsons-disease [on February 18, 2022]
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+====== Wilson's Disease =====
+{{INLINETOC}}
+===== Primer =====
+**Wilson's Disease** is a rare autosomal recessive disorder that results in copper build up in the brain and liver. There are both neuropsychiatric and GI/hepatic signs and symptoms.
+== Epidemiology ==
+  * Wilson's disease occurs in about 1 in 30,000 people.
+  * Males and females are equally affected.
+  * The prevalence is higher in Japan.
+== Prognosis ==
+  * Symptoms usually begin between the ages of 5 and 35 years.
+== Comorbidity ==
+  * If detected early and treated appropriately, individuals can have normal health and a normal lifespan.
+  * In untreated cases, the disease is progressive and disease can occur within 5 to 10 years (from severe brain damage, liver failure).
+    * Severe hemolytic anemia can also be an unusual complication of Wilson’s disease.[([[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002091/|Sharma, S., Toppo, A., Rath, B., Harbhajanka, A., & Lalita Jyotsna, P. (2010). Hemolytic anemia as a presenting feature of wilson’s disease: a case report. Indian Journal of Hematology and Blood Transfusion, 26(3), 101-102.]])]
+===== Symptoms =====
+  * Neuropsychiatric symptoms include [[neurology:approach-tremors|tremors]], muscle stiffness, [[neurology:approach-aphasia|aphasia]], personality changes, [[anxiety:home|anxiety]], and hallucinations. Psychiatric symptoms due to Wilson's disease are present in about 15% of patients.
+  * Hepatic/GI symptoms include vomiting, weakness, ascites, edema, jaundice, and jaundice-associated pruritis.
+===== Pathophysiology =====
+  * Wilson's disease is an autosomal recessive disorder of copper metabolism in chromosome 13. It is due to a mutation in the Wilson disease protein (ATP7B) gene. Copper excretion by liver impaired in Wilson's disease.
+  * Sites of copper deposition include the basal ganglia, liver, cornea
+===== Investigations =====
+  * In young patients presenting with [[neurology:approach-tremors|tremor]], should always order:[([[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3940372/#sec10title|Patil, M., Sheth, K. A., Krishnamurthy, A. C., & Devarbhavi, H. (2013). A review and current perspective on Wilson disease. Journal of clinical and experimental hepatology, 3(4), 321-336.]])]
+    * Serum ceruloplasmin level (low)
+    * Total serum copper (low, since serum ceroplasmin is low)
+    * Free serum copper (elevated)
+    * 24-hour urinary copper excretion (elevated)
+    * Ferritin levels (elevated)
+  * Liver biopsy will indicate elevated copper levels
+==== Neuroimaging ====
+  * [[neurology:ct-scan|CT head]] will often show signs of neurodegenerative disease
+  * [[neurology:mri|MRI head]] will show increased signal in the basal ganglia and especially e thputamen
+===== Physical Exam =====
+  * Dysarthric speech is the most common neurological sign[([[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6531649high|Dusek, P., Litwin, T., & Członkowska, A. (2019). Neurologic impairment in Wilson disease. Annals of Translational Medicine, 7(Suppl 2).]])]
+  * Patients will often appear jaundiced
+  * On gait exam, there is typically an ataxic gait
+  * A "wing-beating" [[neurology:approach-tremors|tremor]] is commonly present as well
+  * Kayser-Fleischer rings are seen on ophthalmoscopic examination by slit lamp, and the patient should be referred to an ophthalmologist for assessment
+===== Treatment =====
+<alert type="info" icon="fa fa-book fa-lg fa-fw">
+See also: **[[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022881/|Litwin, T. et al. (2018). Psychiatric manifestations in Wilson’s disease: possibilities and difficulties for treatment. Therapeutic advances in psychopharmacology, 8(7), 199-211.]]**
+</alert>
+===== Resources =====
+<WRAP group>
+<WRAP quarter column>
+== For Patients ==
+</WRAP>
+<WRAP quarter column>
+== For Providers ==
+  * **[[https://www.nature.com/articles/s41572-018-0018-3|Członkowska, A. et al. (2018). Wilson disease. Nature reviews Disease primers, 4(1), 1-20.]]**
+</WRAP>
+<WRAP quarter column>
+== Articles ==
+</WRAP>
+<WRAP quarter column>
+== Research ==
+  * [[https://www.sciencedirect.com/science/article/pii/S0924933813769852|Aljukić, N., Sutović, A., Avdić, L., Pajević, I., & Hasanović, M. (2013). 2080–A neuropsychiatric presentation of Wilson's disease-Case report. European Psychiatry, 28, 1.]]
+</WRAP>
+</WRAP>