Wilson's disease Flashcards
What is Wilson’s disease?
Wilson’s disease is an autosomal recessive genetic condition characterized by excessive copper accumulation in the body, particularly in the liver, caused by mutations in the ATP7B copper-binding protein gene on chromosome 13.
When does Wilson’s disease typically present, and what are the symptoms?
Wilson’s disease usually presents in teenagers or young adults. Symptoms include:
* Liver issues (chronic hepatitis, cirrhosis)
* Neurological symptoms: tremor, dysarthria, dystonia, and Parkinsonism
* Psychiatric symptoms: depression, cognitive impairment, and psychosis
* Kayser-Fleischer rings
* Haemolytic anaemia
What are Kayser-Fleischer rings, and how are they associated with Wilson’s disease?
Kayser-Fleischer rings are copper deposits in the cornea of the eye, appearing as green-brown rings surrounding the iris. They are a hallmark of Wilson’s disease and can usually be observed with a slit-lamp examination.
What tests are used to diagnose Wilson’s disease?
Tests include:
* Serum caeruloplasmin: Low levels suggest Wilson’s disease
* 24-hour urine copper assay: High levels confirm the diagnosis
* Liver biopsy: Measures copper content in the liver
* Kayser-Fleischer rings: Identified using a slit-lamp examination
* MRI brain: May show characteristic changes like the ‘double panda sign’
* Haemolytic anaemia: Low hemoglobin with a negative Coombs test
* Genetic testing: To confirm mutations and screen family members.
How is Wilson’s disease managed?
Management includes:
* Copper chelation therapy using penicillamine or trientine
* Zinc salts: Inhibit copper absorption
* Liver transplantation: May be necessary in severe cases or end-stage liver disease.
What is the role of serum caeruloplasmin in diagnosing Wilson’s disease?
Low levels of serum caeruloplasmin suggest Wilson’s disease, though it can be falsely normal in cancer or inflammatory conditions.
What is the significance of a 24-hour urine copper assay in Wilson’s disease?
High levels of copper in the urine confirm the diagnosis of Wilson’s disease.
What neurological symptoms are associated with Wilson’s disease?
Neurological symptoms include:
* Tremor
* Dysarthria
* Dystonia
* Parkinsonism (tremor, bradykinesia, rigidity)
What psychiatric symptoms may occur in Wilson’s disease?
Psychiatric symptoms include:
* Depression
* Cognitive impairment
* Psychosis
What is a liver biopsy used for in the context of Wilson’s disease?
A liver biopsy measures copper content in the liver to aid in the diagnosis of Wilson’s disease.
What is the ‘double panda sign’ in MRI brain imaging related to Wilson’s disease?
The ‘double panda sign’ refers to characteristic changes observed in the brain on MRI imaging in patients with Wilson’s disease.
Fill in the blank: Copper chelation therapy in Wilson’s disease may involve _______.
[penicillamine or trientine]
True or False: Kayser-Fleischer rings can be seen without a slit-lamp examination.
False
What condition does haemolytic anaemia lead to in Wilson’s disease?
Haemolytic anaemia leads to low hemoglobin levels.
