Wilson’s disease
DEFINITION
Wilson’s disease is a rare inherited disorder that causes too much copper to accumulate in your liver, brain and other vital organs. Symptoms typically begin between the ages of 12 and 23.
Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and any excess is excreted through bile — a substance produced in your liver.
But in people with Wilson’s disease, copper isn’t eliminated properly and instead accumulates, possibly to a life-threatening level. When diagnosed early, Wilson’s disease is treatable, and many people with the disorder live normal lives.
CAUSES
Wilson’s disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit two copies of the defective gene, one from each parent. If you receive only one abnormal gene, you won’t become ill yourself, but you’re considered a carrier and can pass the gene to your children.
SYMPTOMS
Wilson’s disease causes a wide variety of signs and symptoms that are often mistaken for other diseases and conditions. Signs and symptoms vary depending on what parts of your body are affected by Wilson’s disease. They may include:
- Fatigue, lack of appetite or abdominal pain
- Jaundice, a yellowing of the skin and the whites of the eye
- A tendency to bruise easily
- Fluid buildup in the legs or abdomen
- Problems with speech, swallowing or physical coordination
- Uncontrolled movements or muscle stiffness
When to see a doctor
Make an appointment with your doctor if you have any signs and symptoms that worry you. If a family member has been diagnosed with Wilson’s disease, your doctor may recommend tests to determine whether you may have Wilson’s disease.
