Dr. Bharat Pothuri is a board-certified gastroenterologist and the founder of GastroDoxs. 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.
To determine your risk of having Wilson disease, Dr. Pothuri begins with a review of your personal and family medical history.
He may request a blood test to measure ceruloplasmin, a protein that carries copper in the blood. Low levels can indicate Wilson disease.
A 24-hour urine test is used to check for high copper levels in your system, which is a key indicator of Wilson disease.
If necessary, Dr. Pothuri may recommend liver imaging or a liver biopsy to assess copper accumulation or liver damage.
Genetic testing can identify mutations in the ATP7B gene that cause Wilson disease.
Individualized low-copper diets (avoid shellfish, mushrooms, chocolate, nuts, organ meats).
Use filtered water if copper pipes are present at home.
Nutrition education about fresh fruits, vegetables, and whole grains to maintain liver health.
Advice on fluid and weight regulation.
Removal of excess copper using chelating agents such as penicillamine or trientine.
Zinc therapy to prevent copper absorption in the gut.
Periodic monitoring with blood ceruloplasmin, 24-hour urine copper, and liver enzyme tests.
Endoscopy to manage portal hypertension and variceal bleeding.
In-depth evaluation using imaging (ultrasound, MRI) or liver biopsy.
Preoperative assessment for liver transplantation in advanced or end-stage liver disease.
Dr. Pothuri has treated more than 1K patients, helping individuals improve their digestive health and overall well-being through expert, personalized care.
With over 20 years of experience, GastroDoxs has been a trusted provider of gastroenterology care, focusing on delivering the best outcomes for patients
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.
It is caused by a mutation in the ATP7B gene inherited from both parents, leading to copper accumulation in the body.
Fatigue, unintended weight loss, jaundice (yellowing of skin and eyes), abdominal pain or swelling, tremor, speech changes, and mood changes may be experienced by adults.
Blood tests, 24-hour urine copper test, imaging, and genetic testing are used by Dr. Pothuri. In some cases, a liver biopsy may also be prescribed.
Treatment involves a low-copper diet, chelating drugs like penicillamine or trientine to remove excess copper, and zinc therapy to prevent copper uptake. In complex cases, endoscopy or liver transplantation may be necessary.
Yes. Without treatment, copper buildup can lead to liver inflammation, scarring (cirrhosis), and eventually liver failure.
Yes. It is an autosomal recessive condition, meaning a child must inherit the mutated ATP7B gene from both parents to develop the disease.
