Wilson disease (WD) is a rare genetic disorder of copper metabolism that affects 1 in 30,000 people worldwide. Mutations in the ATP7B gene on chromosome 13 prevent copper from being properly excreted from the body. This results in the accumulation of copper in the liver, brain, and other organs. WD is always fatal unless it is diagnosed and treated before serious symptoms develop.
WD patients typically present with hepatic symptoms, neurologic/psychiatric symptoms, or both. Hepatic symptoms can include hepatomegaly, splenomegaly, elevated serum aminotransferases (AST, ALT), fatty liver, acute hepatitis (resembling autoimmune or viral hepatitis), cirrhosis, and acute liver failure. Neurologic/psychiatric symptoms range in severity depending on the amount and location of copper deposition in the brain. Some of the effects of this are various movement disorders, drooling, dysarthria, dysphasia, dystonia, and seizures. Psychiatric symptoms are usually present in neurologically affected patients and, in fact, sometimes precede the onset of the neurologic symptoms mentioned above. Other systems that can be affected are ocular (Kayser-Fleischer rings), cutaneous, renal, skeletal, cardiac, and endocrine. Wilson disease is a complex, multi-system disorder that is all too frequently misdiagnosed as better known disorders. Sequence analysis of the ATP7B gene is available at The University of Chicago (and other labs) and has become a valuable diagnostic tool for any person in whom Wilson disease is suspected.
Treatment is aimed at removing excess accumulated copper and preventing its reaccumulation. Chelation therapy drugs approved for treating Wilson disease include penicillamine (Cuprimine® and Depen®) and trientine (Syprine® and Trientine Dihydrochloride). Both of these drugs act by binding copper, causing its increased urinary excretion. Mettalothionein inducer drugs approved for treating Wilson disease are (Galzin™) in the U.S. and (Wilzin®) in Europe. Zinc acts by blocking the absorption of copper in the intestinal tract and removes it in the stool. This action both depletes accumulated copper and prevents its reaccumulation. The only “cure” for WD is liver transplantation, which is reserved only for patients with end-stage liver disease.
The Wilson Disease Association (WDA) was incorporated as a non-profit organization in 1983. Today we are still the only U.S. organization advocating for patients with WD. Our services also extend globally to patients and families in over 50 other countries. We work closely with physicians and researchers to ensure early diagnosis and proper treatment of those now and in the future who may be affected by WD. We are dedicated to providing education and support to those struggling to obtain a diagnosis or manage their disease.
In my opinion, one of the biggest challenges the WDA faces is educating the medical community to “Think Wilson Disease” for anyone who has unexplained hepatic, neurologic or psychiatric symptoms. I look forward to the day when no patient is told, “You can’t have Wilson disease, it is too rare”.
For more information about Wilson disease, please visit the WDA website at www.wilsonsdisease.org