Wilson's Disease is a rare inherited disorder in which the body can't properly eliminate excess copper. Instead, copper accumulates in the liver, brain, eyes and other organs, leading to progressive damage. Early detection and treatment are vital to prevent serious complications and promote long-term health.
Symptoms vary depending on age and which organs are affected. Common signs include:
Wilson's Disease is caused by mutations in the ATP7B gene, which disrupts the normal removal of copper from the body. As a result:
If you suspect you have Wilson's Disease or need expert management, GastroDoxs in Cypress is here to help. Our specialists provide advanced testing, personalized treatment plans, and ongoing support to keep your copper levels in check and protect your health. Schedule a consultation now and take the first step toward comprehensive care and long-term well-being.
We've successfully treated more than 1K patients, helping individuals improve their digestive health and overall well-being through expert, personalized care.
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Dr. Bharat Pothuri is a Board-Certified Gastroenterologist and Hepatologist. With extensive experience in digestive health, he specializes in advanced endoscopic procedures, chronic GI disorder management, and preventive care. Dr. Pothuri is dedicated to providing expert, patient-focused insights to help improve gut health and overall well-being.
Wilson's Disease is an inherited genetic disorder in which the body cannot properly eliminate excess copper, causing it to accumulate in the liver, brain, eyes, and other organs.
Kayser-Fleischer rings are greenish-brown or copper-colored rings that form around the cornea of the eye due to copper deposition, often visible on slit-lamp examination.
Common eye symptoms include blurred vision, light (photophobia) sensitivity, and the appearance of brownish Kayser-Fleischer rings at the edge of the iris.
Diagnosis typically involves blood tests (serum ceruloplasmin, liver enzymes), 24-hour urine copper measurement, genetic testing for ATP7B mutations, and imaging or liver biopsy when needed.
The ATP7B gene provides instructions for a protein that transports copper out of liver cells; mutations impair copper excretion, leading to toxic accumulation.
While Wilson's Disease cannot be cured, it is highly treatable with medications (chelation therapy or zinc), dietary changes, and regular monitoring to control copper levels and prevent damage.
Yes. Pediatric dosing of chelating agents or zinc is carefully adjusted by specialists to ensure safety and effectiveness in children.
Zinc therapy works by blocking the absorption of dietary copper in the intestines, helping to reduce overall copper levels in the body.
You should consult a specialist if you experience unexplained liver abnormalities, neurological symptoms (tremors or clumsiness), psychiatric changes, or show eye signs like Kayser-Fleischer rings.
Follow-up visits are generally recommended every 3-6 months, depending on your test results, treatment regimen, and how well copper levels are controlled.
