Wilson Disease

Question 1

What is the inheritance of Wilson Disease?

Answer 1

AR

Question 2

What is the genetic defect for Wilson Disease?

Answer 2

ATP7B gene DNA sequence analysis

Question 3

What is the pathophysiology of Wilson Disease?

Answer 3

Defective transport of copper from liver into

apoceruloplasmin and into the biliary system. Excess copper accumulation in liver.

Question 4

What are the associated medical findings for Wilson Disease?

Answer 4

1. Lifelong neurologic impairment
o Drooling
o Tremors
2. Fulminant hepatic failure
3. Cirrohiss, portal hypertensions
4. Hemolytic crisis (can be fatal)
5. Cerebral and brain stem atrophy
6. White matter changes on brain MRI
7. Kayser-Fleischer Rings
8. Low serum ceruloplasmin

Question 5

What are the developmental outcomes for Wilson Disease?

Answer 5

1. Adolescence
o Deteriorating handwriting
o Tremors
o Clumsiness
o Spasticity
o Academic decline
o Behavior disturbance
2. Psychiatric symptoms are common, especially:
a) Bipolar Disorder
b) Depression
c) Dysthymia
d) Psychosis
e) Schizophrenia
3. Cognitive decline (leading to intellectual disability)
4. Personality changes (irritability, disinhibition, impulsivity)

Question 6

What is the DDx for Wilson disease?

Answer 6

1. Other causes of non-alcoholic chronic liver disease
2. Acute RBC hemolysis
   3, Movement disorders

Question 7

What are the recommendations for Wilson Disease?

Answer 7

1. Early Diagnosis and treatment can prevent progression
2. Partner with Peds GI
3. Copper chelation therapy
   o Penicillamine or triethylene tetramine dihydrochloride + oral zinc
4. Copper avoidance
   o Shellfish, nuts, liver, chocolate