Rare Diseases

Wilson’s Disease

a rare genetic disorder characterized by excess copper stored in various body tissues, particularly the liver and the brain

Wilson disease is a rare genetic disorder characterized by excess copper stored in various body tissues, particularly the liver and the brain (1).

This disease is caused by mutations in the ATP7B gene. This gene encodes a protein that mediates the excretion of copper into the bile.

In Wilson Disease patients, defective ATP7B function leads to copper overload in hepatocytes. Excess copper is also released into blood circulation with secondary pathological accumulation in other tissues, such as the central nervous system (CNS) (2).

People with Wilson disease may develop symptoms, such as tiredness, loss of appetite, yellowing of the skin, fluid buildup in the legs or stomach area. People with Wilson disease may exhibit nervous system symptoms, such as problems with speech, swallowing and physical coordination. They may also develop mental health symptoms, such as depression, mood changes and personality changes. Moreover, a buildup of copper in the eyes may lead to the formation of Kayser-Fleischer rings (3).

Wilson Disease is a rare disease. Prevalence rate is estimated to be around 1 case per 30.000 to 110.000 births (4).

Diagnosis is performed by specialized physicians. Diagnosis of Wilson disease may require examinations, such as liver biopsy, imaging tests, blood tests and 24-hour urine collection test (5). Physicians evaluate the condition of patients. Treatment decisions are made by specialized physicians.

Literature
  1. National Organization for Rare Disorders, Wilson Disease, Available at https://rarediseases.org/rare-diseases/wilson-disease/ (Last updated: 11/12/2024)
  2. Członkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, Rybakowski JK, Weiss KH, Schilsky ML. Wilson disease. Nat Rev Dis Primers. 2018 Sep 6;4(1):21. doi: 10.1038/s41572-018-0018-3.
  3. National Institute of Diabetes and Digestive and Kidney Diseases, Wilson Disease, https://www.niddk.nih.gov/health-information/liver-disease/wilson-disease/symptoms-causes (Last Reviewed October 2018).
  4. Orphanet / Wilson Disease / https://www.orpha.net/en/disease/detail/905
  5. National Institute of Diabetes and Digestive and Kidney Diseases, Diagnosis of Wilson Disease, Available at https://www.niddk.nih.gov/health-information/liver-disease/wilson-disease/diagnosis (Last Reviewed October 2018)