wilson's disease - mx

Question 1

What are the copper test results?

Answer 1

1. REDUCED serum ceruloplasmin
2. INCREASED free serum copper
3. INCREASED urine copper excretion

Question 2

What are the blood test results?

Answer 2

1. coombs negative haemolytic anaemia
2. thrombocytopenia
3. due to hyperplenism caused by portal hypertension

Question 3

What further testing can be done?

Answer 3

1. Liver biopsy

2. Genetic testing

Question 4

What is the general management of wilson’s disease?

Answer 4

1. low copper diet - avoid shellfish, nuts and chocolate

Question 5

What ist the medical management of wilson’s disease?

Answer 5

intial therapy - chelating agents

1. Pencillamine