Streamlined diagnosis needed for Wilson disease management

Wilson disease is a rare genetic disorder that affects how the body processes copper. It can cause serious health problems, including liver, brain, and mental health issues. Estimates suggest that one in every 30,000 people is affected by this condition. Early detection is crucial for managing Wilson disease. It helps prevent damage and improves patients' quality of life. However, diagnosing the disease can be challenging. Patients often show symptoms that are not specific, making it hard for doctors to identify the condition quickly. A combination of tests, including genetic testing and urine analysis, is needed for a proper diagnosis. Dr. Sammy Saab, a leading expert on liver diseases, emphasized the need for simpler diagnostic methods. During a recent interview, he pointed out that many patients struggle to manage their condition due to complications, such as a lack of follow-up care. This situation can lead to over-treatment or mismanagement of the disease. Dr. Saab acknowledged recent advancements in medication for Wilson disease but stressed that more work is needed. He believes better testing methods will help healthcare providers identify patients sooner and improve their treatment outcomes.