28th November 2023

Wilson’s Disease

Wilson’s is an autosomal recessive disorder due to a problem in the ATP7B gene on chromosome 13 (Hahn, 2014). This leads to a build-up of copper in many tissues of the body. The presentations we tend to see are secondary to its accumulation in the liver and the brain. It is the deposition of copper in the CNS which can lead to both neurological and psychiatric symptoms, with imaging showing that the basal ganglia are particularly affected (Bembenek, Kurczych and Członkowska, 2015).

On examination – Mental state examination

Mood

Wilson’s disorder can lead to personality change, anxiety, depression and psychosis (Zimbrean and Schilsky, 2014). In exam circumstances, the stem will often describe a woman in her 20s who presents with the diagnosis of bipolar or personality disorder but has peripheral examination findings more consistent with an overall diagnosis of Wilson’s disease.

Speech

Speech may also be affected with dysarthria.

On examination – Physical examination

Hands

• Blue nails – ‘Azure lunulae’ (Beam and McKusick, 1958).

Face

When looking at the eyes, you may see Kayser-Fleischer rings, which are brown circles outlining the cornea (Mantas, Wells and Trotter, 2013). The patient may also be jaundiced due to acute liver failure.

Abdomen

Other features found on examination are due to liver failure, such as spider naevi and palpable splenomegaly due to portal hypertension (Shirbman, Warner and Dooley, 2019).

Neurological

Wilson’s disease tends to present as neurological issues in older individuals, with movement disorders being the most prevalent. These include (Litwin et al., 2018):

• Tremors.
• Dystonias.
• Parkinsonism – Due to copper deposition in the lenticular nucleus.
• Gait issues – Ataxia.

Investigations

Investigations include bloods (for LFTs, FBC, free copper and ceruloplasmin), liver biopsy and genetic testing (British Medical Journal (BMJ) Best Practice, 2022).

Management

Dietary restriction, zinc and trientine (chelation) are used (BMJ Best Practice, 2022), and a transplant may be required if a liver failure occurs.