Wilson's Disease

Question 1

What is Wilson’s?

What organs does it affect?

What will it lead to if left untreated?

Answer 1

A progressive genetic disorder, which results in accumulation of copper in the body’s tissues.

The brain, liver and cornea of the eyes.

Untreated it may lead to liver fibrosis and cirrhosis, along with central nervous system dysfunction.

Question 2

S+S:

(1) Liver dysfunction:
- What 2 diseases can Wilson’s present with in the liver?

(2) CNS dysfunction:
- What sort of symptoms will they have?

Answer 2

Decompensated liver cirrhosis
ACF

• Asymmetrical tremor in ½ patients with CNS dysfunction
• Poor co-ordination and clumsiness
• Speech and language problems
• Neuropsychiatric illness – commonly severe depression or neurotic behaviours

Question 3

S+S:

What is the name of the ring that is found in the cornea?

Answer 3

Kayser-Felischer ring

Question 4

Diagnosis:

Consider in any patient of any age with unusual liver or neurological abnormalities. There is no one best test for diagnosis.

Apart from the Kayser-Felischer ring, what else can be measured in the bloods to make a diagnosis?

Answer 4

Low serum caeruloplasmin

Caeruloplasmin is a protein made in the liver that stores and carries copper around the blood. This may be low in Wilson’s as copper is not able to bind to the protein causing instability. Serum Caeruloplasmin is can be affected by many factors and is not diagnostic on it’s own.

Other markers of disease include 24hour urinary copper, serum free copper and hepatic copper (liver biopsy).

Question 5

Treatment:

Treatment is life-long. It involves using medication to either promote urinary excretion or to decrease intestinal absorption. The commonest medication used is D-Penicillamine.

Answer 5

Treatment:

Treatment is life-long. It involves using medication to either promote urinary excretion or to decrease intestinal absorption. The commonest medication used is D-Penicillamine.