What is Wilson’s Disease?
Wilson’s Disease is an inherited disorder caused by a defect in copper metabolism. It accumulates copper in various organs, primarily affecting the liver and brain. If untreated, the disease can cause organ failure and can be fatal. Wilson’s Disease can present symptoms at any age but is most commonly seen between the ages of 5 and 35.
The disease often remains asymptomatic for a long time, making early diagnosis crucial. As the disease progresses, liver conditions such as acute or chronic hepatitis and cirrhosis may develop. In children, symptoms may include decreased school performance, cognitive impairments, and neurological issues resembling Parkinson’s disease, such as stiffness in the body and limbs and tremors in the arms and legs.
Diagnosis involves specific laboratory tests on the patient’s blood and urine. A family history of Wilson’s Disease is a risk factor, indicating that siblings should also be tested. Individuals with Wilson’s Disease must carefully manage their copper-rich food intake under medical supervision.
Patients receiving medication can continue daily activities much like healthy individuals. Treatment is lifelong. Early diagnosis is critical for survival; consult a specialist immediately if you suspect the disease.
Sources:
Hanağası, F., & Hanağası, H. A. (2013). Wilson Hastalığı. Turkish Journal of Neurology/Turk Noroloji Dergisi, 19(4).
European Association For The Study Of The Liver. (2012). EASL–EORTC clinical practice guidelines: management of hepatocellular carcinoma. Journal of Hepatology, 56(4), 908-943.
Palumbo, C. S., & Schilsky, M. L. (2019). Clinical practice guidelines in Wilson disease. Annals of Translational Medicine, 7(Suppl 2).
Socha, P., Janczyk, W., Dhawan, A., Baumann, U., D’Antiga, L., Tanner, S., … & Debray, D. (2018). Wilson’s disease in children: a position paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. Journal of Pediatric Gastroenterology and Nutrition, 66(2), 334-344.
