About wilson's disease

What is wilson's disease?

Wilson's disease is a rare inherited disorder that causes copper to accumulate in your liver, brain and other vital organs. Most people with Wilson's disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well.

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 excess is excreted through a substance produced in your liver (bile).

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.



What are the symptoms for wilson's disease?

Wilson's disease is present at birth, but signs and symptoms don't appear until the copper builds up in the brain, liver or other organ. Signs and symptoms vary depending on the parts of your body affected by the disease. They can 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

When to see a doctor

Make an appointment with your doctor if you have signs and symptoms that worry you, especially if a family member has Wilson's disease.



What are the causes for wilson's disease?

Wilson's disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit one copy of the defective gene from each parent. If you receive only one abnormal gene, you won't become ill yourself, but you're a carrier and can pass the gene to your children.



What are the treatments for wilson's disease?

Your doctor might recommend medications called chelating agents, which bind copper and then prompt your organs to release the copper into your bloodstream. The copper is then filtered by your kidneys and released into your urine.

Treatment then focuses on preventing copper from building up again. For severe liver damage, a liver transplant might be necessary.

Medications

If you take medications for Wilson's disease, treatment is lifelong. Medications include:

  • Penicillamine (Cuprimine, Depen). A chelating agent, penicillamine can cause serious side effects, including skin and kidney problems, bone marrow suppression, and worsening of neurological symptoms. Penicillamine should be used cautiously if you have a penicillin allergy. It also keeps vitamin B-6 (pyridoxine) from working, so you'll need to take a supplement in small doses.
  • Trientine (Syprine). Trientine works much like penicillamine but tends to cause fewer side effects. Still, neurological symptoms can worsen when taking trientine.
  • Zinc acetate (Galzin). This medication prevents your body from absorbing copper from the food you eat. It is typically used as maintenance therapy to prevent copper from building up again after treatment with penicillamine or trientine.

    Zinc acetate might be used as primary therapy if you can't take penicillamine or trientine. Zinc acetate can cause stomach upset.

Your doctor might also recommend other medications for symptom relief.

Surgery

If your liver damage is severe, you might need a liver transplant. During a liver transplant, a surgeon removes your diseased liver and replaces it with a healthy liver from a donor.

Most transplanted livers come from donors who have died. But in some cases a liver can come from a living donor, such as a family member. In that case, the surgeon removes your diseased liver and replaces it with a portion of the donor's liver.



What are the risk factors for wilson's disease?

You can be at increased risk of Wilson's disease if your parents or siblings have the condition. Ask your doctor whether you should undergo genetic testing to find out if you have Wilson's disease. Diagnosing the condition as early as possible dramatically increases the chances of successful treatment.



Is there a cure/medications for wilson's disease?

Make an appointment with your doctor if you or someone you know may have Wilson’s disease or are showing symptoms of liver failure. The biggest indicator for this condition is family history, but the mutated gene can skip a generation. You may want to ask for a genetic test alongside the other tests your doctor will schedule.

You’ll want to start your treatment immediately if you get a diagnosis for Wilson’s disease. Early treatment can help prevent or delay the condition, especially if you aren’t showing symptoms yet. Medication includes chelating agents and zinc and may take up to six months to work. Even after your copper levels return to normal, you should continue taking medication, as Wilson’s disease is a lifelong condition.



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