Wilson’s disease is a rare inherited genetic disorder that causes copper to accumulate in vital organs, such as the brain and liver. This can lead to liver and neurological problems. However, early treatment can help patients manage this disease.
- Wilson’s disease is an inherited genetic condition, which means that it is passed down from parents to their children.
- Patients with this condition cannot excrete copper. Instead, it builds up in their organs and can eventually become life-threatening.
- Early treatment can help patients successfully manage this disease. For those with severe liver damage, liver transplantation may be an option.
Wilson’s disease is an inherited genetic condition. Both parents must possess a copy of the mutated ATP7B gene (which affects copper absorption) in order to pass it onto their child. Children of parents who each possess the mutation have a 25 percent chance of developing the disease.
Wilson’s disease can cause cirrhosis and other complications because it prevents the body from getting rid of excess copper. Normally, this copper is excreted through bile, which is a substance produced in the liver. However, in those with Wilson’s disease, extra copper accumulates within the body. Left untreated, this can eventually produce life-threatening symptoms.
It can take years for enough excess copper to build up and start producing signs and symptoms of Wilson’s disease. The type of symptoms will also depend on if the copper is accumulating in the liver, brain, or some other organ.
One symptom shared by a majority of patients with Wilson’s disease are Kayser-Fleischer rings. These look like golden-brown discolorations around the eye and are caused by copper deposits.
The following are some other common early symptoms:
- Abnormal urine tests
- Buildup of abdominal fluid (ascites)
- Difficulty speaking, swallowing, and/or walking
- Enlarged liver and spleen
- Jaundice (yellowing of eyes and skin)
- Loss of appetite
- Low platelet and white blood count
- Muscle rigidity
- Skin rash
- Soft bones
- Tremors in hands and arms
- Vomiting blood
As the disease progresses, symptoms become more serious. They may include the following:
- Kidney disease
- Liver cancer
- Liver failure
Diagnosing Wilson’s disease can be challenging because so many of its symptoms resemble other conditions, such as heavy metal poisoning and hepatitis C. Because of this, doctors rely on a variety of different tests to make a diagnosis.
A diagnosis will usually begin with a physical examination. This will involve checking for physical signs of Wilson’s disease (such as a swollen abdomen or Kayser-Fleischer rings) and assessing motor and memory skills, as well as asking about any family history of the disease.
The following are some other common ways to diagnose Wilson’s disease:
- Blood and Urine Tests: Blood tests check for abnormal levels of certain liver enzymes, which can be a sign of liver disease. They can also check for abnormal levels of copper and/or ceruloplasmin, a protein that carries copper through the blood. Doctors may also check for abnormal levels of copper in urine.
- Genetic Tests: These will check for the mutated ATP7B gene, which causes Wilson’s disease.
- Imaging Tests: These form an image of the liver and/or brain so that doctors can better detect signs of disease. These tests may include a computerized tomography (CT) scan or an MRI (magnetic resonance imaging) test.
- Liver Biopsy: This is a surgical procedure that removes a tiny portion of liver tissue so that doctors can examine it under a microscope to determine what is wrong.
There is no cure for Wilson’s disease. However, early treatment can help patients successfully manage this condition. This may include the following:
- Medications: Chelating agents such as penicillamine can help remove excess copper from the body, while zinc acetate or tetrathiomolybdate prevent the body from absorbing copper from food, making it easier to maintain normal copper levels.
- Liver Transplantation: If there is severe liver damage, a liver transplantation may be necessary. This involves surgically removing the diseased liver and replacing it with a healthy donor liver. Learn more about liver transplantations.
When Wilson’s disease is diagnosed before copper has built up to dangerous levels, treatment can reduce symptoms and prevent further complications. Although patients will most likely have to continue treatment for the remainder of their life, it will allow them to successfully manage the condition.
In addition to medical treatment, patients can further improve their outlook by adopting healthy lifestyle recommendations, such as avoiding foods high in copper.
Our liver specialists are experienced in diagnosing Wilson’s disease and can help you manage any symptoms and complications. We are also a leader in liver transplantations.
Call us at (877) LIVER MD/ (877) 548-3763 or use our online form to schedule an appointment.