A 24 year old man is admitted to A&E having started vomiting blood, a pill rolling tremor along with a brown ring around the iris are noted on examination. Which of the following blood results would you expect to be present?
The brown ring around the iris gives it away! This is a Kayser-Fleischer ring and is pathognomic of Wilson's disease. The vomiting of blood would most likely result from oesphageal varices which are a complication of liver failure, which is itself seen in Wilson's disease.
Low serum B12 levels5%Raised mean corpuscular volume6%Low plasma caeruloplasmin80%Decreased urinary catecholamines4%Uremia5%
The brown ring around the iris gives it away! This is a Kayser-Fleischer ring and is pathognomic of Wilson's disease. The vomiting of blood would most likely result from oesphageal varices which are a complication of liver failure, which is itself seen in Wilson's disease.
Wilson's disease
Wilson's disease (Otherwise known as hepatolenticular degeneration), is a disease of copper storage. Failure to excrete copper results in very high levels in the liver and brain. In the brain there is degeneration of the lenticular nucleus (putamen and globus pallidus).
The condition demonstrates autosomal recessive inheritance. The central problem is a mutation in the Wilson disease protein (ATP7B) gene. This gene codes for an enzyme that transports copper into the bile and incorporates it into ceruloplasmin.
The majority (90-95%) of patients exhibit low levels of both ceruloplasmin and total serum copper.
The condition presents with movement disorders such as dystonia, parkinsonian tremor, and rigidity combined with behavioural problems and a degree of dementia is often seen. A Kayser-Fleischer ring is the term given to the brown ring seen around the iris in people with Wilson's disease.
