Final answer:
Wilson's disease is a hereditary disorder that leads to excess copper build-up in the body. Labs to diagnose it include tests for serum ceruloplasmin, 24-hour urine copper, and liver biopsy. Treatment involves chelation therapy, zinc supplementation, and possibly a liver transplant for severe cases.
Step-by-step explanation:
Labs and Treatment for Wilson's Disease
Wilson's disease, also known as hepatolenticular degeneration, is a hereditary disorder of copper metabolism. It is characterized by the body's inability to excrete excess copper, which results in copper accumulation and damage to various organs, primarily the liver and the brain. To diagnose Wilson's disease, a range of laboratory tests are utilized, including serum ceruloplasmin levels, 24-hour urine copper tests, and hepatic copper content via liver biopsy. Additional blood tests to examine liver function might involve checking levels of alkaline phosphatase, alanine aminotransferase (ALT), aspartate aminotransferase (AST), direct bilirubin, total bilirubin, serum albumin, and serum total protein.
Treatment for Wilson's disease generally includes chelation therapy with agents like penicillamine or trientine to help remove excess copper from the body. Zinc supplementation may also be used to block copper absorption in the intestine. In severe cases where there is significant liver damage, a liver transplant may be considered. It is also essential to avoid foods high in copper and monitor for complications such as hepatolenticular damage and neurological symptoms. Ongoing monitoring and treatment are crucial as Wilson's disease is a lifelong condition.