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| Disease found: | Wilson Disease |
| Current as of: | October 8, 2024 |
| Disease Overview: | Rare genetic disorder characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. [more info] |
| Signs and Symptoms: | Progression from asymptomatic presentation only noted by elevated liver enzymes to liver failure and jaundice; Acculation in brain causes neurological symptoms like tremors and dystonias, and parkinsonism; ocular manifestations such as Kayser-Fleischer rings [more info] |
| Diagnosis: | Based on clinical symptoms, copper levels, and DNA analysis (looking for ATP7B mutation) [more info] |
| Treatment: | Copper chelators (d-penicillamine and trientine) that increase urinary copper excretion and zinc salts that decrease copper absorption from the digestive tract; liver transplant can also be considered [more info] |
| Clinical Management: | In addition to early treatment with chelators and symptomatic management, patient copper levels and liver function tests should be monitored frequently, as well as effects on other organs [more info] |
| Referral: | Hepatologists, neurologists, and psychiatrists. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Many clinical trials are currently recruiting |