- Last edited on February 18, 2022
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cl:wilsons-disease [on April 21, 2020] |
cl:wilsons-disease [on February 18, 2022] psychdb [Physical Exam] |
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====== Wilson's Disease ===== | ====== Wilson's Disease ===== | ||
+ | {{INLINETOC}} | ||
===== Primer ===== | ===== Primer ===== | ||
- | **Wilson's Disease** is a rare autosomal recessive disorder that results in copper build up in the body. There are both neuropsychiatric and GI/hepatic signs and symptoms. | + | **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. |
- | ==== Prevalence ==== | + | == Epidemiology == |
- | Wilson's disease occurs in about 1 in 30,000 people. Symptoms usually begin between the ages of 5 and 35 years. Males and females are equally affected. | + | * 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). | ||
===== Symptoms ===== | ===== 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. | * 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. | ||
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===== Pathophysiology ===== | ===== Pathophysiology ===== | ||
- | Wilson's disease is an autosomal recessive disorder. It is due to a mutation in the Wilson disease protein (ATP7B) gene. | + | * 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 ===== | ===== Investigations ===== | ||
- | * Serum ceruloplasmin level and 24-hour urinary copper excretion should be ordered in young patients presenting with tremor to rule out Wilson's | + | * 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.]])] |
- | * A [[neurology:ct-scan|CT head]] will often show signs of neurodegenerative disease | + | * 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 ===== | ===== Physical Exam ===== | ||
- | * "Wing-beating" [[neurology:approach-tremors|tremor]] | + | * 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).]])] |
- | * Kayser-Fleischer rings are seen on ophthalmoscopic examination by slit lamp | + | * 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 ===== | ===== Resources ===== | ||
- | ==== Case Reports ==== | + | <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.]] | * [[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> |