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Wilson Disease Association Publications

Selected Journal Articles and Textbook Refereces

Ala, A., Borjigin, J., Rochwarger, A., & Schilsky, M.L. Wilson disease in septuagenarian siblings: Raising the bar for diagnoses. Hepatology, 2005 Mar; 41(3):668-70
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/15723329?dopt=AbstractPlus

Brewer, G.J. Recognition, diagnosis, and management of Wilson’s disease. Society for Experimental Biology and Medicine, 2000; 223:39-46.

Brewer, G.J. (2001) Wilson’s disease for the patient and family. A patient’s guide to Wilson’s disease and frequently asked questions about copper. Xlibris
Additional information: http://www2.xlibris.com/bookstore/bookdisplay.asp?bookid=12253

Brewer, G.J. (2001). Wilson’s disease, a clinician’s guide to recognition, diagnosis, and management. Norwell, MA: Kluwer Academic Publishers.
Additional information: http://www.springer.com/medicine.neurology/book/978-0-7923-7354-4

Brewer, G.J. (2005). Behavioral abnormalities in Wilson’s disease. In Weiner WJ, Lang AE, Anderson KE (eds). Behavioral Neurology of Movement Disorders, 2nd Edition (Chapter 19). Philadelphia: Lippencott, Williams & Wilkins.

DeWilde, A., Sadilkova, K., Sadilek, M., Vasta, V., & Hahn, S.H. Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography – tandem mass spectrometry: application to newborn screening. Clin Chem. 2008 Dec; 54 (12):1961-8. E[in 2008 Oct 9.
Abstract: http://www.clinchem.org/cgi/content/abstract/54/12/1961

Schilsky, M.L. Treatment of Wilson’s disease: What are the relative roles of penicillamine, trientine, and zinc supplementation? Current Gastorenterology Reports, 2001; 3:54-59.
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/11177695

Schilsky, M.L., Scheinberg, I.H., & Sternlieb, I. Liver transplantation for Wilson’s disease: indications and outcome. Hepatology, 1994; 19:583-587
Abstract: http://www.ncbi.nlm.nih.gov/pubmed/8119682

Schilsky, M.L., Tavill, A.s. (2006). Wilson disease. In Schiff’s diseases of the liver., 10th edition (Chapter 35). Philadelphia: Lippencott, Williams & Wilkens.

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Common Queries and Questions

Can you provide an overview of how Wilson disease affects the liver?
The course of liver disease in Wilson's disease stands in contrast to other forms of cirrhosis for many people. The chronic liver injury in Wilson's disease is caused by excess free copper, and the liver disease often stabilizes or even improves once the excess copper is treated with zinc acetate maintenance therapy. While some people do progress to need liver transplantation, others may actually see long-term improvement in their liver function over time. It is important to be attentive to issues such as immunizations for viral hepatitis, avoiding excess alcohol consumption, and treating complications of portal hypertension in order to give the liver its best chance to mend. Fred Askari, M.D., Ph.D. Assistant Professor Director, Wilson's Disease Center of Excellence Clinic at the University of Michigan
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How/where is the brain affected by copper accumulation?
Generally, the brain is affected symmetrically with excess copper deposition, although symptoms can be worse on one side of the body than another. This may have to do with factors of asymmetric neurologic development, such as being right or left-handed. The copper is often seen most prominently in the basal ganglia, the area deep within the brain that coordinates movements. The face of the giant panda sign refers to a characteristic appearance of the basal ganglia in advanced Wilson's disease. This is a description of the appearance of the basal ganglia wherein one can get an impressionists image of the face of a giant panda. Fred Askari, M.D., Ph.D. Assistant Professor Director, Wilson's Disease Center of Excellence Clinic at the University of Michigan
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My Dr. says I have high copper in my blood (serum copper). Could I have Wilson disease?
High serum copper is not an indication of Wilson disease. Since most Wilson patients have a low ceruloplasmin they actually have a lower than normal serum copper. Ceruloplasmin is the protein that binds with copper to remove it from the body. It is the unbound (to ceruloplasmin) copper that is free to roam around the body and accumulate in organs causing Wilson disease damage. An elevated serum copper is more often due to an elevation of the level of serum ceruloplasmin since it contains ~90% of the circulating copper bound to it. Elevations of ceruloplasmin can occur with inflammation, in response to estrogen therapy and in pregnancy. Note: The exception to this is when there is severe liver injury (acute liver failure) caused by Wilson disease. This causes very large amounts of copper to be released into circulation and causes markedly elevated serum copper. When this occurs, patients are very ill and usually have jaundice (yellow eyes and skin color) and very abnormal lab results with respect to liver function and blood coagulation. - Michael Schilsky, M.D., Weill Cornell School of Medicine, WDA Medical Advisor
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What are some of the other symptoms of Wilson disease?
Hepatic: Asymptomatic hepatomegaly; Isolated splenomegaly; Persistent elevated AST, ALT; Fatty Liver; Acute hepatitis; resembling autoimmune hepatitis; cirrhosis (compensated or decompensated); fulminant hepatic failure Neurological: Movement disorders (tremor, involuntary movements); drooling, dysarthria; rigid dystonia; pseudobulbar palsy; seizures; migraine headaches; insomnia Psychiatric: Depression; neuroses; personality changes; psychosis Other symptoms: Renal abnormalities: amino-aciduria and nephrolithiasis; skeletal abnormalities: premature osteoporosis and arthritis; cardiomyopathy, dysrhythmias; pancreatitis; hypoparathyroidism; menstrual irregularities: infertility, repeated miscarriages From: A Diagnostic Tool for Physicians (3/04)
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What copper levels in drinking water are potentially hazardous for Wilson's disease patients?
If the water is over 0.1 ppm (parts per million) (which is 0.1 mg/L), I recommend an alternative source. While 0.1 ppm isn't particularly hazardous, it indicates that significant copper is coming from somewhere, and at certain times or under certain circumstances the level might be quite a bit higher. George J. Brewer, M.D. Department of Human Genetics, University of Michigan Medical School
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Should Wilson's patients receive Hepatitis A or Hepatitis B vaccine?
Yes. Since Wilson's disease often affects the liver, many Wilson’s disease patients cannot afford additional injury to the liver. Hepatitis A or Hepatitis B vaccine is as safe for Wilson's disease patients as it is for others. - H. Ascher Sellner, M.D.
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