Wilson's Disease Flashcards
What is Wilson’s disease.
An autosomal recessive condition.
It causes abnormal hepatobiliary copper metabolism and excretion.
What are the symptoms of Wilson’s disease related to.
They are related to the degree and sites of copper deposition.
What are the neurological signs of Wilson’s disease. (10)
Ataxia. Seizures. Tremor. Dysphagia. Dystonias. Purposeless stereotyped movements (eg hand clapping) Parkinsonism. Choreoathetosis. Dysarthria. Dementia.
What is the ophthalmic sign of Wilson’s disease.
Kayser-Fleischer rings.
What are Kayser-Fleischer rings.
Copper deposition in the cornea.
What are the psychiatric sings of Wilson’s disease. (4)
Depression/mania.
Labile emotions.
Variations in libido.
Personality changes.
What is the haematological sign of Wilson’s disease.
Haemolysis.
What is the presentation of liver disease in Wilson’s disease.
Hepatitis. (acute/chronic).
Cirrhosis.
Fulminant liver failure.
What is the general consequence of having Wilson’s disease.
Total body copper is increased, with excess copper deposition in, and causing damage to, several organs.
By what route is excess copper usually excreted from the body.
In the bile.
What are the organ systems most affected by Wilson’s disease. (5)
Liver. Basal ganglia of the brain. Eyes. Kidneys. Skeleton.
When do the symptoms caused by Wilson’s disease manifest.
Between the ages of 5 and 45.
When does hepatic disease manifest in patients with Wilson’s disease. (2)
Hepatic disease occurs predominantly in childhoon and early adolescence.
It can also present in adults in their 50s.
When do the neurological symptoms of WIlson’s manifest.
The neurological symptoms tend to manifest themselves in late adolescence.
What are two rare presenting features of Wilson’s disease.
Osteoporosis.
Renal tubular damage.
When should you always consider Wilson’s disease as a possible diagnosis.
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.
What may be an early neurological symptom of Wilson’s disease.
Unusual clumsiness for age.
When does neurological disease usually develop in patients with Wilson’s disease.
Usually after the onset of liver disease.
How can neurological disease be prevented in patients with Wilson’s disease.
By effective treatment following diagnosis of the liver disease.
In what percentage of patients with Wilson’s disease can you observe Kayser-Fleischer rings.
In 60% of adults with WIlson’s disease.
They are considered the most important single clinical clue of the condition.
What do Kayser-Fleischer rings look like.
They are characterised by a greenish-brown discoloration of the corneal margin.
They appear first at the upper periphery.
What is the prevalence of WIlson’s disease.
It is rare.
3/100,000
What are the cognitive signs of WIlson’s disease. (6)
Decreased memory. Quick to anger. Slow to solve problems. Low IQ. Delusions. Mutism.
What is a sign is the nails of patients with WIlson’s disease.
Blue lunalae.
What are some musculoskeletal signs of Wilson’s disease. (3)
Osteoporosis.
Arthritis.
Hypermobile joints.
What is a dermatological sign of WIlson’s disease.
Grey skin.
