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About
Everything you need to know about Wilson Disease
 
Wilson disease is a genetic disorder that is fatal unless detected and treated before serious illness from copper poisoning develops. Wilson disease affects approximately one in 30,000 people worldwide. The genetic defect causes excessive copper accumulation in the liver or brain.
 
Small amounts of copper are as essential as vitamins. Copper is present in most foods and most people have much more copper than they need. Healthy people excrete copper they don't need but Wilson disease patients cannot.
 
Copper begins to accumulate immediately after birth. Excess copper attacks the liver or brain, resulting in hepatitis, psychiatric, or neurologic symptoms. The symptoms usually appear in late adolescence. Patients may have jaundice, abdominal swelling, vomiting of blood, and abdominal pain. They may have tremors and difficulty walking, talking and swallowing. They may develop all degrees of mental illness including homicidal or suicidal behavior, depression, and aggression. Women may have menstrual irregularities, absent periods, infertility, or multiple miscarriages. No matter how the disease begins, it is always fatal if it is not diagnosed and treated.
 
The first part of the body that copper affects is the liver. In about half of Wilson disease patients the liver is the only affected organ. The initial physical changes in the liver are only visible under the microscope. When hepatitis develops, patients are often thought to have infectious hepatitis or infectious mononucleosis when they actually have Wilson disease hepatitis. Testing for Wilson disease should be performed in individuals with unexplained, abnormal liver tests.
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Common Queries and Questions

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
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
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
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)
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
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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