Resumen
What is Wilson disease?
Wilson disease, also known as copper storage disease or hepatolenticular degeneration syndrome, is a rare inherited disorder that causes copper to accumulate in the liver, brain and other vital organs. Normally, copper is absorbed from food, and excess copper is excreted through bile produced in the liver. With Wilson disease, copper is not properly eliminated and instead accumulates in organs, possibly to a life-threatening level.
The signs of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. When diagnosed early, Wilson disease is treatable, and many people with the disorder live normal lives.
How common is Wilson disease?
Wilson disease affects an estimated 1 in 30.000 people.
Questions regarding your Wilson disease therapy?
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Síntomas
What are the symptoms of Wilson disease?
While Wilson disease is present at birth, signs and symptoms do not generally appear until copper builds up in the brain, liver, or other organs.
Liver disease is typically the initial symptom of Wilson disease in children and young adults. Individuals diagnosed at an older age do not usually have symptoms of liver problems, but may have very mild liver disease.
Individuals diagnosed in adulthood often experience nervous system or psychiatric problems as initial symptoms. Signs and symptoms may include clumsiness, tremors, difficulty walking, speech problems, impaired ability to process thoughts, depression, anxiety, and mood swings.
Symptoms can vary depending on the affected parts of the body but may include:
- Fatigue, lack of appetite or abdominal pain
- A yellowing of the skin and the whites of the eye (jaundice)
- Golden-brown eye discoloration (Kayser-Fleischer rings)
- Fluid buildup in the legs or abdomen
- Problems with speech, swallowing or physical coordination
- Uncontrolled movements or muscle stiffness
¿Cómo se diagnostica?
Because many symptoms may look like symptoms of other diseases, Wilson disease can be difficult to diagnose. To diagnose the condition, physicians rely on a combination of symptoms and test results. Diagnostic tests and procedures include the following:
- Blood and urine tests
Blood tests monitor liver function, the level of protein that binds copper in the blood, as well as the level of copper in the blood. A 24-hour urine test measures the amount of copper in urine during the 24-hour period. - Eye exam
Using a microscope with a high-intensity light source (a slit lamp), an ophthalmologist checks for brown Kayser-Fleischer rings in the eyes. Wilson disease is also associated with a sunflower cataract, which can be seen on an eye exam. - Liver biopsy
A small sample of the liver is removed and tested for excess copper. - Genetic testing
A blood test can identify the abnormal genes that cause Wilson disease.
Financiación de su atención
Hay recursos económicos disponibles para ayudarlo con el costo de sus medicamentos, incluidos programas de los fabricantes y programas comunitarios. Los especialistas de Accredo están a su disposición para ayudarlo a encontrar el programa adecuado para usted.
Orientación financiera
Encuentre apoyo
There are many organizations that support research and advocacy for Wilson disease. Consulte a continuación algunas de estas organizaciones.
Organizaciones de apoyo
Conozca al equipo
Accredo’s rare disease care team is dedicated to serving you, and we understand the complexity of your condition. Nuestros médicos clínicos con formación especializada están disponibles las 24 horas al día, los siete días de la semana, para responder cualquier pregunta.
Centro de Servicio al Cliente las 24 horas
Call 888-454-8860