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.
Dr. Pothuri begins by reviewing your personal and family medical history to assess your risk for Wilson's disease.
He may order a blood test to measure ceruloplasmin, a protein that carries copper in the blood. Low levels may suggest Wilson's disease.
A 24-hour urine collection checks for elevated copper levels in your body, a key indicator of Wilson's disease.
If needed, Dr. Pothuri may recommend liver imaging or a biopsy to evaluate copper buildup or liver damage.
Genetic testing may be used to confirm mutations in the ATP7B gene, which causes Wilson's 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 buildup in the body.
Adults may experience fatigue, unexplained weight loss, jaundice (yellowing of skin and eyes), abdominal pain or swelling, tremors, speech difficulties, and mood changes.
Dr. Pothuri uses blood tests for ceruloplasmin, a 24-hour urine copper test, imaging studies, and genetic testing. A liver biopsy may be recommended in some cases.
Treatment includes a low-copper diet, chelating agents such as penicillamine or trientine to remove excess copper, and zinc therapy to block copper absorption. Advanced care may involve endoscopy or liver transplant if needed.
Yes. Without treatment, copper accumulation can cause liver inflammation, scarring (cirrhosis), and eventual liver failure.
Yes. It follows an autosomal recessive inheritance pattern, so a child must inherit the mutated ATP7B gene from both parents to develop the disease.
