5.2.7 Medical conditions

Wilsons disease

Wilson’s disease is an inherited disorder that causes copper to accumulate in the body, primarily in the liver and brain. It is caused by mutations in the ATP7B gene, which encodes a protein responsible for the transport and excretion of copper in the body. The accumulation of copper in the liver can lead to cirrhosis, while the accumulation in the brain can lead to neurological symptoms such as tremors, speech difficulties, and psychiatric issues. The diagnosis of Wilson’s disease is typically made based on clinical presentation, laboratory test results, and genetic testing. Treatment typically involves the use of medications to remove excess copper from the body and to prevent further accumulation.

Diagnosis

• reduced serum ceruloplasmin
• reduced serum copper (counter-intuitive, but 95% of plasma copper is carried by ceruloplasmin)
• increased 24hr urinary copper excretion