Delayed Diagnosis of Wilson’s Disease Causes Liver Failure

This case takes place in Tennessee and involves a twenty-six-year old patient who went to her doctor because of chronically elevated liver enzymes. The patient had a history of depression, eating disorders, and arthralgia. In 2008, she was diagnosed with nonalcoholic steatohepatitis and continued to have elevated ALT’s, AST’s, and bilirubin that went untreated. In 2012, the patient was hospitalized for severe liver failure and was diagnosed with Wilson’s disease. The patient had a liver transplant and is now awaiting a second transplantation.

Question(s) For Expert Witness

1. What is your experience with Wilson's disease?

2. Would an earlier diagnosis have changed the outcome?

Expert Witness Response E-005983

My specialty is in hepatology and liver transplantation. I have cared for many patients with Wilson’s disease and my entire clinical practice is centered on the management of patients with liver disease and issues of liver transplantation. Left untreated, Wilson's disease tends to become progressively worse and is eventually fatal. With early detection and treatment, most of those affected can live relatively normal lives. Liver and neurologic damage that occurs prior to treatment may improve, but it is often permanent. I believe that this patient’s disease should have been diagnosed earlier, which would have absolutely altered her prognosis.