- Last edited on February 18, 2022
Wilson's Disease
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.[1]
Symptoms
- 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
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- 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
Physical Exam
- Dysarthric speech is the most common neurological sign[3]
- Patients will often appear jaundiced
- On gait exam, there is typically an ataxic gait
- A “wing-beating” 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
Resources
For Patients
For Providers
Articles
References
1)
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.