What is Wilson’s Disease?

Dr. Michell Shiffman of Bon Secours' Liver Institute of Virginia

Dr. Michell Shiffman of Bon Secours' Liver Institute of Virginia

Wilsons disease is a genetic disorder where copper accumulates in the liver. This results from an abnormality in the copper binding protein cerulosplasmin. Cerululospalmin cannot be secreted by the liver into the blood and the serum level of ceruloplasmin is low.

Wilsons disease can affect the liver in one of two ways. The liver can fail suddenly. These patients are acutely ill and require emergent liver transplant or they will likely die. In the other form of Wilsons disease copper causes liver injury more slowly, over decades, fibrosis increases over time and eventually leads to cirrhosis. The differences between the various forms of Wilsons disease are caused by differences in where the defect is within the Wilsons disease gene.

In both forms of Wilsons disease copper may accumulate in other tissues. Too much cooper in the brain may cause nerve damage or psychological disease, copper may also damage the kidneys and the red blood cells reading to anemia.

The great majority of patients with Wilsons disease have low levels of cerulosplamin in the blood. This is because the ceruloplasmin cannot get out of the liver. Patients with the severe liver failure form of the disease tend to be below the age of 25 years, have markedly elevated liver enzymes and are jaundiced. Patients who present with cirrhosis from Wilsons disease tend to be above the age of 30 years.

The treatment for Wilsons disease is to bind up the excess copper causing the liver injury. This is done by the drug penicillamine. This medication binds copper and is then excreted by the kidney into the urine. The level of cooper in the blood gradually falls into the normal range and the liver injury resolves. Administration of penicillamine to a patient with liver failure may reverse the process and allow the liver to recover. However, all such patients should be evaluated for liver transplant in case this does not occur quickly enough.

The major limitation of penicillamine is that many patients develop a severe rash. Alternative medications that bind copper are available for such patients. An alternative treatment is take aluminum supplements. Aluminum competes for copper absorption in the diet and this presents copper from accumulating to high levels. Many patients who have been treated with ceruloplasmin to reduce the level of copper in their body can be switched to aluminum long term. The treatment of Wilsons disease is life long. Whenever treatment is stopped copper will start to reaccumulate in the body.

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About Dr.MLShiffman

Dr. Mitchell Shiffman is the Bon Secours expert on liver disease and liver treatments for Virginia. Prior to joining Bon Secours, Dr. Shiffman was a professor of Medicine at Virginia Commonwealth University (VCU) in Richmond, VA. He was the Chief of the Hepatology Section and Medical Director of the Liver Transplant Program at the VCU Medical Center from 1989 until 2009. During his 20 years at the VCU Medical Center Dr. Shiffman built and directed one of the most respected and productive hepatology programs in the United States. Dr. Shiffman is recognized as one of the world’s leaders in the field of Hepatology. His particular area of research is viral hepatitis. He has been involved with and/or directed numerous clinical trials to develop new and better treatments for viral hepatitis B and C. Dr. Shiffman is a regular speaker on the treatment of viral hepatitis, the management of various liver disorders, and issues related to liver transplantation at regional, national and international society meetings. He has published over 200 articles in medical journals related to the treatment of liver diseases and has edited two books on this topic. In addition, he has contributed to various HCV educational resources including an HCV educational kit. Dr. Shiffman is also a widely recognized expert consultant to pharmaceutical companies on the treatment of liver disease. Dr. Shiffman holds a Bachelor of Arts from State University of New York at Buffalo, a Master of Science in physiology from the University of New Mexico School of Medicine in Albuquerque, N.M. and his Doctor of Medicine from State University of New York Upstate Medical Center in Syracuse, N.Y. He completed his internship and residency in internal medicine and fellowship training in gastroenterology and hepatology at the Medical College of Virginia Hospitals in Richmond, VA. Dr. Shiffman is a member of many professional organizations including: the American College of Gastroenterology, American College of Physicians, the American Gastroenterological Association, American Society for the Study of Liver Diseases, American Society of Transplantation, European Association for the Study of the Liver, International Liver Transplantation Society, Richmond Academy of Medicine, Virginia Medical Society and the Virginia Gastrointestinal Society. He was a member of the Board of Trustees with the American College of Gastroenterology from 2003-2009.

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