What is it? A disease of copper metabolism resulting in copper deposition in tissues. Usually the liver and brain are affected, but virtually any tissue can be.
How does this happen? There is a mutation in ATP7B on chromosome 13, resulting in decreased incorporation of copper into ceruloplasmin. Also, there is significant impairment of copper excretion into bile.
Who gets it? it is mostly an Autosomal Recessive trait, so there are clusters in families. Sporadic cases can occur too. Symptoms can present anywhere from the pre-teens to early mid-life.
What are the Neurologic manifestations? tremors, rigidity, dysphagia, gait abnormalities, subtle changes in personality, delusions, or hallucinations. Classic eye findings include Kayser-Fleischer rings which are visible on slit lamp. Check out the picture above - note the brown copper deposition around the iris.
What are the Hepatic manifestations? patients can have a mild transaminitis to overt cirrhosis. The hepatic manifestations usually occur prior to neurologic disease.
How do I diagnose it? Patients will have a low serum ceruloplasmin and high urine copper levels. These tests have sub-optimal sensitivities and specificities. The gold standard is liver biopsy with copper quantification.
How do we treat the disease? with copper chelation therapy. Common drugs include Penicillamine , Trientine, and Zinc.
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