Wilson Disease and Abnormal Copper Metabolism

I spent yesterday at a high-level Wilson Disease symposium sponsored by the Wilson Disease Association (I had served on the board for many years), California Pacific Medical Center and the American Liver Foundation which was attended by patients and their families, scientists, physicians and other health care personnel. Michael Schilsky,M.D., a national Wilson Disease expert from Yale, described diagnosis and clinical aspects of this condition, including elevations of liver, blood serum and urinary copper, decreased ceruloplasmin (a protein which moves copper throughout the body), abnormal liver function tests such as elevated bilirubin and INR (a measure of clotting), psychiatric symptoms, movement disorder and hemolytic anemia. Then Sihoun Han,M.D., Ph.D. now of Children's Hospital in Seattle Washington, provided a tour de force of the genetic changes which are found in Wilson Disease and the use of these mutations in diagnosis. Giuseppe Inesi, M.D., Ph.D. of California Pacific described his elegant research into the Copper ATPas Molecule and its mutations and Robert Wong, M.D., a transplant hepatologist at California Pacific described clinical research involving transplanted Wilson Disease patients. Catherine Frenette, M.D. of California Pacific discussed curative liver transplant for Wilson Disease and provided encouraging statistics for all hepatic transplants and finally, in a fast-paced and helpful talk, Mary Pasquali, R.D., M.S. of California Pacific described nutritional support for cirrhotic patients, including those for Wilson Disease, and post-transplant patients.

While Wilson Disease is rare (a speaker cited 30 patients per million), it is a disease which - if diagnosed early - can be treated so that the patient has a normal life and normal life expectancy. If diagnosed late, severe crippling neurologic disorders may develop, or fulminant or chronic liver failure may require liver transplant or the patient may die. A timely on-target diagnosis requires well-trained phsicians and teams and the use of sophisticated technology which has only recently become available.

Good medical care saves money. Early diagnosis and treatment will cost a few thousand dollars; late diagnosis with disability and a liver transplant will have costs approaching a million dollars.

Symposia, such as the one I attended yesterday, will be held by the Wilson Disease Association this year in various regions of the United States and will bring important education and competence to the field.