Wilson's Disease Blood Test

What is Wilson's Disease?

Wilson's disease is a rare inherited disorder that causes toxic copper accumulation in the liver, brain, and other vital organs. It is caused by mutations in the ATP7B gene, which prevents the body from properly eliminating excess copper. The Ceruloplasmin test is the most important blood test for diagnosis because most people with Wilson's disease have significantly low ceruloplasmin levels.

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What causes Wilson's disease?

Wilson's disease is caused by mutations in the ATP7B gene, which codes for a protein responsible for transporting copper out of cells and into bile for elimination. When this gene is defective, copper cannot be properly removed from the body and accumulates to toxic levels in the liver, brain, eyes, and other organs. This inherited disorder follows an autosomal recessive pattern, meaning you must inherit two defective gene copies (one from each parent) to develop the condition.

What is the best test for Wilson's disease?

The Ceruloplasmin test is the most important blood test for Wilson's disease because it measures the copper-carrying protein that is typically low in people with this condition. Most individuals with Wilson's disease have ceruloplasmin levels below 20 mg/dL, making this a key diagnostic marker. Additional testing includes the Copper, Serum or Plasma test to measure total copper levels and the Copper, Random Urine test to assess how much copper your body is trying to eliminate. The Alkaline Phosphatase test provides supporting information as levels are often unusually low in Wilson's disease due to liver dysfunction. A comprehensive diagnosis typically requires a combination of these tests along with clinical evaluation.

When should I get tested for Wilson's disease?

You should get tested if you experience unexplained liver problems, neurological symptoms like tremors or difficulty speaking, psychiatric changes including depression or personality shifts, or notice golden-brown rings around your corneas (Kayser-Fleischer rings). Testing is especially important if you have a family history of Wilson's disease or if your siblings have been diagnosed, since this is an inherited genetic condition. Early detection is critical because Wilson's disease is treatable with proper medical management, but can cause permanent liver and brain damage if left undiagnosed.

What are the symptoms of Wilson's disease?
Wilson's disease symptoms vary depending on which organs are affected by copper buildup. Liver-related symptoms include fatigue, jaundice, abdominal swelling, and easy bruising or bleeding. Neurological symptoms can include tremors, muscle stiffness, difficulty walking, slurred speech, and problems with coordination. Psychiatric symptoms may include depression, anxiety, mood swings, personality changes, and psychosis. Some people also develop Kayser-Fleischer rings, which are golden-brown discolorations around the edges of the corneas. Symptoms typically appear between ages 5 and 35, though they can develop at any age.
Who is at risk for Wilson's disease?
Wilson's disease is an inherited genetic disorder that affects people who inherit two defective copies of the ATP7B gene, one from each parent. The condition occurs in approximately 1 in 30,000 people worldwide, affecting all ethnicities equally. Your risk is highest if both parents carry the defective gene, or if you have siblings or other close family members diagnosed with Wilson's disease. People with a family history should consider genetic counseling and testing, even if they have no symptoms, since early detection dramatically improves outcomes.
What happens if Wilson's disease is left untreated?
Untreated Wilson's disease leads to progressive and potentially life-threatening organ damage as copper continues to accumulate. Liver complications can progress from hepatitis to cirrhosis, liver failure, and liver cancer. Neurological damage may become permanent, causing irreversible movement disorders, speech problems, and cognitive decline. Copper buildup can also damage the kidneys, heart, and bones, leading to kidney stones, heart rhythm problems, and osteoporosis. Psychiatric symptoms can worsen, severely affecting quality of life. However, with early diagnosis and proper treatment, most people with Wilson's disease can prevent these complications and live normal, healthy lives.
Can Wilson's disease be diagnosed with a blood test?
Yes, blood tests are essential for diagnosing Wilson's disease. The Ceruloplasmin blood test is the primary screening tool, as most people with Wilson's disease have low levels below 20 mg/dL. The Copper, Serum or Plasma test measures total copper in your blood, and the Alkaline Phosphatase test often shows unusually low levels in Wilson's disease patients. A 24-hour urine copper test is also typically performed to measure how much copper your body is eliminating. While no single test alone can definitively diagnose Wilson's disease, these blood and urine tests together provide the evidence doctors need to confirm the diagnosis, often supported by eye exams for Kayser-Fleischer rings and genetic testing.
How is Wilson's disease treated?
Wilson's disease is treated with medications that remove excess copper from the body and prevent new copper accumulation. Chelating agents like penicillamine and trientine bind to copper so it can be eliminated through urine. Zinc acetate blocks copper absorption from food in the intestines and is often used for maintenance therapy or in people who cannot tolerate chelating agents. Treatment is lifelong and must be taken consistently to prevent copper reaccumulation. Dietary changes include avoiding high-copper foods like shellfish, nuts, chocolate, and mushrooms. In cases of severe liver damage, liver transplantation may be necessary. With proper treatment started early, most people with Wilson's disease can prevent organ damage and live normal lives.
How can I prevent Wilson's disease?
Wilson's disease cannot be prevented since it is an inherited genetic disorder present from birth. However, you can prevent complications through early detection and treatment. If you have a family history of Wilson's disease, genetic testing and screening can identify the condition before symptoms appear, allowing treatment to begin before organ damage occurs. Genetic counseling is recommended for people with affected family members and for couples planning to have children when one or both partners carry the gene mutation. Once diagnosed, consistently taking prescribed medications and following dietary recommendations prevents copper accumulation and protects your organs from damage.
What can I do at home to manage Wilson's disease?
At home, the most important action is taking your prescribed medications consistently and never stopping treatment without medical guidance. Follow a low-copper diet by avoiding high-copper foods like shellfish, liver, nuts, dried beans, chocolate, and mushrooms. Use only distilled or bottled water if your tap water runs through copper pipes, especially during the first year of treatment. Monitor yourself for new or worsening symptoms and report them to your doctor promptly. Avoid multivitamins or supplements containing copper. Regular follow-up appointments and repeat blood tests are essential to monitor treatment effectiveness and adjust medications as needed. Joining support groups for people with Wilson's disease can provide emotional support and practical tips for managing daily life with this condition.
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