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cl:wilsons-disease [on September 15, 2018] |
cl:wilsons-disease [on February 18, 2022] (current) psychdb [Primer] |
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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 (average age of 17). | ||
| + | |||
| + | == 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> | ||