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Wilson's Disease
What is Wilson Disease?
Wilson Disease is a rare genetic disorder involving the disruption of copper metabolism leading to copper deposition in the brain, liver, and cornea of the eye, which can lead to organ dysfunction. Though rare, it is important to recognize this condition as treatment is eminently available, and early treatment can greatly limit disability and prevent morbidity and mortality. Liver involvement can lead to liver failure necessitating a liver transplant. Brain involvement can lead to psychiatric symptoms, trouble swallowing, tremor, dystonia, parkinsonism, walking difficulty, and other movement disorder manifestations.
Wilson Disease should be considered in all pediatric, adolescent, or young adult patients with new onset abnormal movements, new onset psychiatric symptoms, and/or unexplained liver disease. The diagnostic assessment includes blood and urine tests. An eye exam can help detect copper deposition in the cornea (image to the right). MRI of the brain can also be informative (image to the right).
Wilson Disease has an autosomal recessive inheritance pattern. Genetic analysis detecting a homozygous or compound heterozygous ATP7B mutation is a confirmatory test. Asymptomatic siblings of patients with Wilson Disease should be screened for the diagnosis.
As a WDA COE we offer a holistic approach and multidisciplinary care for patients with Wilson disease. By engaging in research to further the field and educating the next generation of specialist providers we strive to provide optimal and continuous service to the WD community.
To learn more about WDA COEs:
https://wilsondisease.org/living-with-wilson-disease/centers-of-excellence/
Links:
Patient Education
https://rarediseases.org/rare-diseases/wilson-disease/
https://www.rarediseaseadvisor.com/disease-info-pages/wilson-disease-patient-education/
https://medlineplus.gov/spanish/wilsondisease.html (en Español)
Hepatology Partner sites
https://umiamihealth.org/en/treatments-and-services/hepatology/metabolic-storage-diseases
https://transplant.jacksonhealth.org/programs/liver-transplant/
https://www.aasld.org/practice-guidelines/diagnosis-and-treatment-wilson-disease
Centers of Excellence at University of Miami
The Division received the designation as a Center of Excellence from the Parkinson’s Foundation in 2007. Since then the team has also been designated an American Parkinson’s Disease Information and Referral Center, Cure PSP Center of Care, Huntington Disease Center of Excellence, and Wilson’s Disease Center of Excellence. The division also comprises part of Cognitive Neurology’s Lewy Body Disease Center of Excellence, and the Department of Psychiatry’s Tourette Center of Excellence.
