What is it?
Wilson disease is a rare genetic disorder characterized by the accumulation of excess copper in various body tissues, particularly the liver, brain, and corneas of the eyes. It is caused by mutations in the ATP7B gene, which plays a role in copper transport and metabolism. Diagnosis involves clinical evaluation, blood tests, genetic testing, and additional imaging studies if necessary.
What are its symptoms?
The main symptoms of Wilson disease can vary and may include fatigue, jaundice (yellowing of the skin and eyes), abdominal pain, neurological problems such as tremors, difficulty speaking or swallowing, and psychiatric symptoms. The disease can affect multiple organ systems, with the liver and brain being most commonly affected. If left untreated, Wilson disease can lead to liver (hepatic) disease, central nervous system dysfunction, and even death.
What do I need to consider?
The main symptoms of Wilson disease can vary and may include fatigue, jaundice (yellowing of the skin and eyes), abdominal pain, neurological problems such as tremors, difficulty speaking or swallowing, and psychiatric symptoms. The disease can affect multiple organ systems, with the liver and brain being most commonly affected. If left untreated, Wilson disease can lead to liver (hepatic) disease, central nervous system dysfunction, and even death.
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References
- Canadian Liver Foundation. Wilson Disease Of The Liver – Canadian Liver Foundation. Recuperado de https://www.liver.ca/liver-disease/wilson-disease
- Mayo Clinic. Wilson’s disease – Symptoms and causes. Recuperado de https://www.mayoclinic.org/diseases-conditions/wilsons-disease/symptoms-causes/syc-20353253
- National Organization for Rare Disorders (NORD). Wilson Disease. Recuperado de https://rarediseases.org/rare-diseases/wilson-disease
- MedlinePlus. Wilson disease. Recuperado de https://medlineplus.gov/ency/article/000785.htm
- Cleveland Clinic. Wilson Disease: Symptoms & Causes.