Wilson's Disease

Question 1

What is Wilson’s disease.

Answer 1

An autosomal recessive condition.

It causes abnormal hepatobiliary copper metabolism and excretion.

Question 2

What are the symptoms of Wilson’s disease related to.

Answer 2

They are related to the degree and sites of copper deposition.

Question 3

What are the neurological signs of Wilson’s disease. (10)

Answer 3

Ataxia. 
Seizures. 
Tremor. 
Dysphagia. 
Dystonias. 
Purposeless stereotyped movements (eg hand clapping)
Parkinsonism. 
Choreoathetosis. 
Dysarthria. 
Dementia.

Question 4

What is the ophthalmic sign of Wilson’s disease.

Answer 4

Kayser-Fleischer rings.

Question 5

What are Kayser-Fleischer rings.

Answer 5

Copper deposition in the cornea.

Question 6

What are the psychiatric sings of Wilson’s disease. (4)

Answer 6

Depression/mania.
Labile emotions.
Variations in libido.
Personality changes.

Question 7

What is the haematological sign of Wilson’s disease.

Answer 7

Haemolysis.

Question 8

What is the presentation of liver disease in Wilson’s disease.

Answer 8

Hepatitis. (acute/chronic).
Cirrhosis.
Fulminant liver failure.

Question 9

What is the general consequence of having Wilson’s disease.

Answer 9

Total body copper is increased, with excess copper deposition in, and causing damage to, several organs.

Question 10

By what route is excess copper usually excreted from the body.

Answer 10

In the bile.

Question 11

What are the organ systems most affected by Wilson’s disease. (5)

Answer 11

Liver. 
Basal ganglia of the brain. 
Eyes. 
Kidneys. 
Skeleton.

Question 12

When do the symptoms caused by Wilson’s disease manifest.

Answer 12

Between the ages of 5 and 45.

Question 13

When does hepatic disease manifest in patients with Wilson’s disease. (2)

Answer 13

Hepatic disease occurs predominantly in childhoon and early adolescence.
It can also present in adults in their 50s.

Question 14

When do the neurological symptoms of WIlson’s manifest.

Answer 14

The neurological symptoms tend to manifest themselves in late adolescence.

Question 15

What are two rare presenting features of Wilson’s disease.

Answer 15

Osteoporosis.

Renal tubular damage.

Question 16

When should you always consider Wilson’s disease as a possible diagnosis.

Answer 16

In any patient under the age of 40 presenting with recurrent acute hepatitis or chronic liver disease of unknown cause.
Especially when accompanied by haemolysis.

Question 17

What may be an early neurological symptom of Wilson’s disease.

Answer 17

Unusual clumsiness for age.

Question 18

When does neurological disease usually develop in patients with Wilson’s disease.

Answer 18

Usually after the onset of liver disease.

Question 19

How can neurological disease be prevented in patients with Wilson’s disease.

Answer 19

By effective treatment following diagnosis of the liver disease.

Question 20

In what percentage of patients with Wilson’s disease can you observe Kayser-Fleischer rings.

Answer 20

In 60% of adults with WIlson’s disease.

They are considered the most important single clinical clue of the condition.

Question 21

What do Kayser-Fleischer rings look like.

Answer 21

They are characterised by a greenish-brown discoloration of the corneal margin.
They appear first at the upper periphery.

Question 22

What is the prevalence of WIlson’s disease.

Answer 22

It is rare.

3/100,000

Question 23

What are the cognitive signs of WIlson’s disease. (6)

Answer 23

Decreased memory. 
Quick to anger. 
Slow to solve problems. 
Low IQ. 
Delusions. 
Mutism.

Question 24

What is a sign is the nails of patients with WIlson’s disease.

Answer 24

Blue lunalae.

Question 25

What are some musculoskeletal signs of Wilson’s disease. (3)

Answer 25

Osteoporosis.
Arthritis.
Hypermobile joints.

Question 26

What is a dermatological sign of WIlson’s disease.

Answer 26

Grey skin.