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
Neuropsychiatric symptoms include tremors, muscle stiffness, aphasia, personality changes, 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 tremor, should always order:[2]
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
CT head will often show signs of neurodegenerative disease
MRI head will show increased signal in the basal ganglia and especially e thputamen
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