Wilson's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required.
The main sites of copper accumulation are the liver and the brain, and consequently liver disease and neuropsychiatric symptoms are the main features that lead to diagnosis. People with liver problems tend to come to medical attention earlier, generally as children or teenagers, than those with neurological and psychiatric symptoms, who tend to be in their twenties or older. Some are identified only because relatives have been diagnosed with Wilson's disease; many of these, when tested, turn out to have been experiencing symptoms of the condition but haven't received a diagnosis.
Wilson's Disease is one of the few diseases that has a treatment/cure - a liver transplant. It also can strike without warning. Here is a 2009 article from the NY Times about a patient who almost didn't make it.
From the Wilson Disease Association:
How is Wilson Disease Diagnosed?
The diagnosis of Wilson disease is made by relatively simple tests. The tests can diagnose the disease in both
symptomatic patients and people who show no signs of the disease. These tests can include:
• Ophthalmologic slit lamp examination for Kayser-Fleischer rings (copper rings around the eyes)
• Serum ceruloplasmin and serum copper blood tests
• 24-hour urine copper test
• Liver biopsy for histology and histochemistry and copper quantification• Genetic testing, haplotype analysis for siblings, and mutation analysis.
On a personal note, Wilson's Disease was one of the diseases that we thought Dan had. We were sent to an ophthalmologist to check for the copper rings in the back of his eyes around the age of 3 1/2.
The "cheat sheet" about Wilson's Disease from the National Library of Medicine is here.
Rare Disease Day is February 28, 2013.