Wilson's disease

Wilson's disease is an inherited metabolic disorder in which the body cannot remove extra copper, so the metal accumulates in organs including the liver, brain and eyes. It is rare and present from birth, with symptoms usually appearing between childhood and young adulthood. Gene mutations cause the condition, which first attacks the liver, the nervous system or both. Liver involvement can bring jaundice, fatigue and abdominal swelling, while neurological and psychiatric effects include tremor, clumsiness, speech difficulty, depression and anxiety; a brownish ring around the cornea is characteristic, and acute liver failure is a serious complication. Diagnosis combines medical and family history, physical and eye examination, blood and urine tests, and sometimes liver biopsy or imaging. Treatment uses chelating agents that remove copper together with zinc and a low-copper diet, and it is lifelong; liver transplantation may be needed when liver failure develops.

Seek urgent care for vomiting blood, black or bloody stools, severe abdominal pain, or difficulty swallowing. See a doctor for heartburn more than twice a week, a change in bowel habit lasting more than three weeks, or unexplained weight loss. Call the local emergency number for any symptom that is sudden and severe. This page is a reference for healthcare professionals and does not replace an assessment.