Wilson’s Disease – Diagnosis and Treatment
Diagnosis
Doctors diagnose Wilson’s disease by looking at symptoms and using several tests. This genetic condition can show up with many signs that may look like other liver problems, such as cirrhosis, hepatitis, or even early liver failure.
Symptoms include fatigue, jaundice, swelling, changes in behavior, loss of appetite, anxiety, and signs of anemia.
Some people develop psychiatric symptoms or changes in behavior, while others show signs of liver disease or have problems like acute liver failure or hemolytic anemia.
Because Wilson’s disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, family history is often important. Doctors often start with a physical exam. They look for yellowing of the eyes or skin and signs of swelling.
An important eye exam checks for Kayser-Fleischer rings—copper-colored rings at the edge of the cornea, which appear under a slit-lamp. Doctors also check for a unique type of cataract called a sunflower cataract.
Lab tests play a major role in making a diagnosis:
| Test or Exam | What It Checks |
|---|---|
| Blood Tests | Liver function, ceruloplasmin, copper level |
| Urine Tests (24-hour) | Amount of copper removed in urine |
| Eye Exam | Kayser-Fleischer rings, sunflower cataract |
| Liver Biopsy | Copper buildup in liver tissue |
| Genetic Testing | Changes in ATP7B gene |
If other results are unclear, doctors may perform a liver biopsy. In this test, a doctor removes a small piece of liver to check for copper buildup in the tissue.
Genetic testing identifies changes in the ATP7B gene and helps find affected family members before symptoms start. Family screening can help if doctors diagnose Wilson’s disease because of the way it is inherited.
Treatment
Medication Options
Doctors manage Wilson’s disease with lifelong use of certain medicines. The main drugs prescribed are copper-binding agents and zinc. These remove extra copper from the body or stop more copper from being absorbed.
Key Medicines:
| Medicine Name | How It Works | Possible Side Effects |
|---|---|---|
| Copper-chelating agent (oral) | Helps attach to copper, so it leaves through urine | Skin rashes, kidney problems, lower blood counts, worsened nerve symptoms, affects vitamin B6 |
| Alternative copper-chelating agent | Removes copper in a similar way as penicillamine | Fewer side effects, may still affect the nervous system |
| Zinc-based copper absorption blocker | Stops the gut from soaking up copper from food | Upset stomach |
- Copper-chelating agents are effective, but doctors use them carefully in those sensitive to certain antibiotics, and patients often need extra vitamin B6.
- Alternative copper-chelating agents work similarly but usually cause fewer problems.
- Zinc-based absorption blockers are mostly used after copper has been reduced with chelating treatments, or when a person cannot take the other medicines. They can be used alone if there are no disease symptoms.
Doctors also address any other related problems as part of the patient’s overall treatment plan. They regularly monitor and adjust treatment to keep copper at safe levels in the body.
Liver Replacement Procedures
When the liver has been badly damaged, medicine may not be enough. In these cases, doctors may recommend a liver transplant.
A liver transplant involves removing the damaged liver and replacing it with one from a donor. Most often, the new liver comes from someone who has died, but in some cases, a living family member donates a portion of their liver.
This procedure can greatly improve survival in patients whose livers can no longer work right due to Wilson’s disease. After transplant, patients need lifelong medicines and health checks to help prevent the body from rejecting the new liver.
Daily Habits and Home Tips
Doctors usually advise people managing Wilson’s disease to lower the amount of copper in their meals. It helps to avoid foods high in copper, such as liver, shellfish, mushrooms, nuts, and chocolate.
Using a table like the one below can make it easier to remember which foods to skip:
| Food to Avoid | Reason |
|---|---|
| Liver | High copper |
| Shellfish | High copper |
| Mushrooms | High copper |
| Nuts | High copper |
| Chocolate | High copper |
Check the home’s tap water for copper levels, especially if there are copper pipes. Avoid multivitamins that include copper. Talking with a healthcare provider from can provide more tips on limiting copper.
Getting Ready for Your Medical Visit
Steps You Can Take Before the Appointment
Preparing ahead of time can help make the visit more effective. It is useful to:
- Contact the clinic. When booking, ask if any actions, like changing your diet before blood tests, are recommended.
- Write down your symptoms. List all symptoms, including when they began and how they have changed.
- Gather important medical details. Bring information about major life stressors, past medical issues, and any family history of Wilson’s disease.
- Make a medication list. Include all medicines, vitamins, and supplements with the correct doses.
- Prepare questions. Planning your questions can help. You might ask about the kinds of tests needed, treatment plans, side effects, other available options, dietary changes, managing other health conditions, and the need for further specialist care.
- Bring a support person. Taking a relative or friend can help with remembering the information shared.
Here is a sample list you can use:
| To Bring or Prepare | Details |
|---|---|
| Symptom list | When they started, how often they occurred |
| Personal health history | Stresses, other health issues, family diseases |
| Medicine and supplement list | Names, amounts, how often you take them |
| Questions for the doctor | Tests, treatments, nutrition, family testing |
Topics Your Doctor Will Cover
During the visit, the doctor may ask several questions to better understand your case. These may include:
- How often do your symptoms appear?
- How severe are your symptoms?
- How long have you had these issues?
- Do you notice if anything makes them better or worse?
- Does anyone else in your family have Wilson’s disease?
If you answer honestly and clearly, the doctor can recommend the right tests and treatments.
