Early diagnosis key to curing Wilson's disease, say doctors

Early diagnosis is the key to permanent relief from Wilson's disease a genetic disorder in which copper builds up in the body affecting brain and liver, doctors said. According to them, Wilson's disease if diagnosed late causes copper to be released into the blood stream which then travels and builds up in organs such as the brain, kidney, eyes and liver. If not treated, it can even cause severe brain damage or liver failure and death.

"Wilson's disease leads to copper poisoning. Caused due to rare genetic mutation; when a defective XX or XY gene is transferred from both parents to the child, it affects the ceruloplasmin enzyme which is responsible for metabolising copper in the body," said Director of Hepato-Pancreato-Biliary (HPB) Surgery & Liver Transplantation at BLK Super Specialty Hospital, Sanjay Singh Negi.

Medical Sciences say that such cases are common where marriage between first cousins is common. Symptoms typically begin between the ages of 12 and 23. Stating that usually in a healthy body, liver filters out unnecessary copper and releases it through urine, Negi said "In Wilson's disease, the liver cannot remove the extra copper into bile as it should. So, all the copper building up in liver damages the organ."

Wilson's disease is rare and it affects about 1 in 30,000 people worldwide. "Early diagnosis and treatment offer the best outlook for people with the disease, in most cases the disorder goes unnoticed due to lack of set pattern of symptoms," said Negi, adding that symptoms of Wilson's disease are changes in one's personality including speech impairment, hyper-sexuality, uncontrolled aggression, depression, etc.

"But if copper accumulation is in the liver, the body may have swelling of fluid build- up in the lining of abdomen, weakness, tiredness, weight loss, anemia, high levels of amino acids among others," said Negi. However, Pal said that the medicines used for Wilson's disease are powerful and can have side effects such as fever, rash, kidney issues or bone marrow problems.

"If detected early and treated properly, a person with Wilson's disease can enjoy a completely normal life. On the contrary, any delay in diagnosing the disorder would mean increasing damage to the liver. Also, it may cause neurological disorders and affect patient's brain, and can prove to be fatal," said Pal.