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Wilson’s Disease

Samuel Alexander Kinnier Wilson

Wilson’s Disease

Mutation in the ATP7B gene.

Leads to impairment of cellular copper transport.

Copper progressively accumulates within the hepatocytes.

Copper spills out of the liver and is deposited in other organs and tissues.

Provokes damage and dysfunction.

Autosomal-recessive disorder.

Mutation in the ATP7B gene on chromosome13.

1 case in 30,000 live births in most populations.

The majority of patients diagnosed between the ages of 5 and 35 years (mean age of 12 to 23 years).

1878 – 1937

Other Manifestations

Bone and joint involvement.

osteoporosis 80%

Hemolytic anemia 10 to 15%.

Renal involvemen.

Renal tubular dysfunction

Hyperpigmentation.

Congestive heart failure, cardiac arrhythmia.

Hepatic Dysfunction

Diagnosis

In most individuals with neurological or psychiatric dysfunction:

Presence of Kayser-Fleischer rings.

Elevated 24-hour urinary copper

Reduced ceruloplasmin levels. 85 to 90%

sufficient to confirm diagnosis and makes liver biopsy unnecessary.

Abdominal pain.

Jaundice.

Itching.

Upper gastrointestinal bleeding.

Coagulopathy.

Hepatomegaly, Splenomegaly, Ascites.

Asymptomatic (5 to 23 percent)

Hepatomegaly, Splenomegaly.

Elevation of liver enzymes.

Acute transient hepatitis in 25%.

Acute liver failure.

Chronic hepatitis.

Cirrhosis.

The average age is 11.4 years.

Symptoms to begin before age 5 year and above age 40 years is rare.

Treatment

Restore and maintain copper balance.

lifelong commitment to treatment is required.

Treatment

Zinc.

Penicillamine.

Trientine.

Liver Transplantation.

Why it’s important?

Because psychiatric symptoms were severe enough to warrant psychiatric intervention in 20 to 50% of all symptomatic patients before the diagnosis of Wilson's disease was made.

The psychiatric presentations of Wilson's disease, Akil M, Schwartz JA, Dutchak D, Yuzbasiyan-Gurkan V Brewer GJ, Department of Psychiatry, University of Michigan, Ann Arbor. J Neuropsychiatry Clin Neurosci. 1991 Fall;3(4):377-82.

Wilson's disease. Psychiatric symptoms in 195 cases. Dening TR, Berrios GE. Department of Psychiatry, University of Cambridge, England. Arch Gen Psychiatry. 1989 Dec;46(12):1126-34.

Neurological Manifestations

Home Massage

The average age of symptom onset is 18.9 years.

Symptoms may appear as early as age 6 years or late as age 72 years.

Wilson’s disease should be considered and excluded in any young person who develops unexplained psychiatric dysfunction.

The possibility of Wilson’s disease should also be considered in young persons suspected of drug abuse,because the symptoms can be similar.

Dysarthria 85 to 97%.

Dystonia.

Tremor.

Gait abnormalities.

Seizures 6%.

References

UP to date

Wilson’s Disease,Ronald F. Pfeiffer, Semin Neurol.2007 April;27(2):123-132.

Psychiatric Manifestations

Frontal Syndrome

Subcortical Dementia

Cognitive Impairment 

Range of 20% to 65%.

Personality changes and disturbances of mood (particularly depression).

Frontal syndrome

Subcortical dementia.

Slowed thinking.

Memory loss.

Executive dysfunction.

Depression 20 to 30 percent.

16% of patients had a history of suicide.

Dysthymia

Bipolar affective disorder

Psychosis

Declining school performance

Impulsivity.

Impaired judgement.

Apathy.

poor planning and decision making.

Decreased attention, and emotional lability.

Severe Causes:

Pseudobulbar features (sudden outbursts of inappropriate laughter or tearfulness).

Ophthalmological Manifestations

Kayser-Fleischer rings

Sunflower cataract

Thank you

Abdulaziz S. AlEissa R3

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