Wilsons disease

Question 1

define Wilsons disease

Answer 1

excessive accumulation of copper In the body and tissues

Question 2

what are the causes of Wilsons disease ?

Answer 2

• autosomal recessive mutation of ATP7B copper binding protein on chromosome 13
  — therefore reduced removal of copper in liver
  — therefore excess body copper

Question 3

what are the risk factors for Wilsons disease?

Answer 3

• family history
  -male
• 5-35

Question 4

describe the pathology behind Wilsons disease

Answer 4

1. impaired Cu biliary excretion and normal transport bound to Ceruloplasmin.
2. Cu accumulates in liver + CNS ( basal ganglia)

Question 5

what are the three types of symptoms of Wilsons disease?

Answer 5

1. Hepatic
2. Neurological
3. Opthalomogical

Question 6

what are the hepatic symptoms for Wilsons disease?

Answer 6

• liver disease e.g jaundice

Question 7

what are the neurological symptoms for Wilsons disease?

Answer 7

• parkinsonism
• memory issues
• dystonia
  -dysarthia

Question 8

what are the opthalomogical symptoms for Wilsons disease?

Answer 8

• kayser- Fleisener ring
  ( copper deposits in cornea)

Question 9

how is Wilsons disease diagnosed?

Answer 9

1. Cu tests
2. liver biopsy
3. MRI brain
4. 24- hour urine Cu assay ( high)

Question 10

in Wilsons disease : what would copper tests show?

Answer 10

• Low serum copper ( more copper in tissue, not blood)
  -low Ceruloplasmin

Question 11

in Wilsons disease : what would a liver biopsy ( GS) show?

Answer 11

• high Cu
• Hepatitis

Question 12

in Wilsons disease : what would a MRI of the brain show?

Answer 12

• cerebellar and Basal Ganglia degeneration

Question 13

what is the treatment for Wilsons disease?

Answer 13

1st line- D-Penicillamine ( cu chelation)
- diet changes, avoid shellfish and mushroom
- last resort– liver transplant