Medical Professionals

This section provides basic information and resources about Wilson disease for medical professionals who may not have experience diagnosing and treating patients with the disease.  It is extremely important to diagnose and begin treatment of this rare disease as quickly as possible to avoid permanent damage to the liver, brain, and other organs. Testing for Wilson disease should be done in patients who have:

• Unexplained abnormal liver function tests
• Unexplained neurological symptoms
• Unexplained psychiatric symptoms or behavioral and personality changes
• Unexplained hemolytic anemia

Physicians at our Centers of Excellence are willing to consult with physicians that have limited or no experience with Wilson disease.

Wilson Disease: Diagnosis and management and the path to cure by Michael Schilsky

Dr. Michael Schilsky is a highly accomplished expert in the field of Wilson disease (WD) research and treatment. He has made significant contributions to both basic laboratory research and clinical studies, focusing on understanding the natural history of WD and improving disease diagnosis and treatment monitoring. Dr. Schilsky currently serves as the Chair of the Medical Advisory Committee for the Wilson Disease Association and directs the Center of Excellence for Wilson Disease at Yale University.  This presentation reflects the state-of-the art and best practices for the diagnosis, treatment and management of this rare genetic liver disease.

Please see Scholarly Resources for scientific publications and abstracts for additional information.