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Wilson’s disease is a rare genetic disorder that leads to an accumulation of copper in various organs, particularly the liver, brain, and eyes. While the condition is typically diagnosed in individuals between the ages of 5 and 35, it can also affect younger and older people.
Copper is essential for the health of nerves, bones, collagen, and the skin pigment melanin. Normally, copper is absorbed from food, and excess copper is eliminated by the liver through a substance called bile. However, in Wilson’s disease, the liver fails to remove copper properly, leading to its buildup. If left untreated, this buildup can be life-threatening. Early diagnosis and treatment of Wilson’s disease can manage the condition effectively, allowing many people to lead normal lives.
Symptoms
Wilson’s disease is present from birth, but symptoms typically emerge only after copper accumulates in the brain, liver, eyes, or other organs. The symptoms can differ depending on which parts of the body are affected by the disease. These symptoms may include:
- Jaundice, a yellowing of the skin and the whites of the eyes.
- Kayser-Fleischer rings, which are circles around the eyes’ irises that have a golden-brown or coppery hue.
- Uncontrolled movements or muscle stiffness.
- A build-up of fluid in the stomach area or legs.
- Exhaustion.
- Loss of appetite.
- Personality changes, depression, and mood swings.
- Finding it difficult to get to sleep and stay asleep.
- Issues relating to speech, swallowing, or motor coordination.
If you have symptoms that concern you, schedule a visit with your doctor. This is especially important if you have a family member with Wilson’s disease.
Causes
Wilson’s disease results from a mutated gene that is inherited from each parent. You will be a carrier if you have only one mutated gene. This implies that your offspring may inherit the impacted gene.
Risk factors
Wilson’s illness may be more common in you if it affects your parents or siblings. To determine whether you have Wilson’s disease, ask your doctor if genetic testing is necessary. Early diagnosis of the illness significantly improves the prognosis for recovery.
Diagnosis
Wilson’s disease can be difficult to diagnose because its symptoms frequently resemble those of other liver conditions, like hepatitis. Furthermore, symptoms may gradually appear. It can be particularly challenging to connect progressive behavioral changes to Wilson’s illness.
To diagnose patients, doctors consider both test results and symptoms. Wilson’s disease is diagnosed using the following tests and procedures:
- Blood and urine tests: These tests can evaluate your liver function and measure the level of ceruloplasmin, a protein that binds copper in the blood. They also check for copper levels in your blood and may include measuring the amount of copper excreted in your urine over a 24-hour period.
- Eye exam: An eye doctor uses a high-intensity microscope, known as a slit-lamp, to look for Kayser-Fleischer rings, which are deposits of excess copper in the eyes. Wilson’s disease is also associated with a specific type of cataract called a sunflower cataract, which can be detected during the exam.
- Liver biopsy: This procedure involves inserting a thin needle through your skin and into your liver to collect a small tissue sample. The sample is then analyzed in a laboratory for excess copper.
- Genetic testing: A blood test can identify the genetic mutations responsible for Wilson’s disease. If you test positive for these mutations, your doctor can also screen your siblings for the same genetic changes, allowing for early treatment if necessary.
Treatment
Copper chelating agents are medications that your doctor may suggest. These medications bind to copper, prompting your organs to release it into the bloodstream. Your kidneys subsequently filter the copper and excrete it through your urine. The goal of treatment is then to prevent copper from reaccumulating. If there is significant liver damage, a liver transplant may be required.
Medicines
Wilson’s disease is a lifelong condition that requires lifetime medication. Medications consist of:
- Penicillamine: Penicillamine is a copper chelating agent that helps remove excess copper from the body. However, it can lead to severe side effects, including skin and kidney problems, and may exacerbate nervous system symptoms. It can also cause bone marrow suppression, reducing the production of red blood cells and platelets. Caution is advised for those with a penicillin allergy, as penicillamine can interfere with vitamin B6 (pyridoxine) absorption, necessitating a small dose B6 supplement.
- Trientine: Trientine is another copper chelating agent similar to penicillamine but generally has fewer side effects. However, it can still worsen nervous system symptoms.
- Zinc acetate: This medication prevents your body from absorbing copper from food. It is often used to prevent copper buildup after initial treatment with penicillamine or trientine. Zinc acetate may also be used as primary therapy if you cannot tolerate penicillamine or trientine or if you have no symptoms. It can cause stomach upset.
Additionally, your doctor may suggest treatments for other Wilson’s disease symptoms.
Surgery
Liver transplant
You may require a liver transplant if the damage to your liver is severe. A surgeon removes your damaged liver during a liver transplant procedure and replaces it with a donor’s healthy liver.
The majority of transplanted livers originate from deceased donors. A liver may occasionally come from a living donor, like a relative. The surgeon would then remove the damaged liver from you and replace it with a part of the donor’s liver.
