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Wilson Disease Center of Excellence

Directed by Fred Askari, M.D., Ph.D.

The objective of the Wilson Disease Center of Excellence is to optimize care by serving as a source of focused expertise for people affected by Wilson disease. Along with this objective, we hope to increase the frequency of diagnosis of people affected by Wilson disease and help foster appropriate treatment. In conjunction with referring physicians, the Center provides annual or more frequent follow-up, strives to maintain and increase compliance with chronic medication, increases patient education, and communicates new advances. While the majority of patients will be treated with established treatment regimens, patients may choose to participate in clinical trials for the development of improved medicines for Wilson disease when appropriate. The Center of Excellence employs a team approach to the care of Wilson disease patients. The team can consist of a liver doctor, neurologist (adult – Matthew Lorincz, MD, pediatric – Martha Carlson, MD), speech pathologist, liver transplant team, dieticians, genetic counselors, psychiatrists, laboratory technicians who specialize in the quantitation of copper, as well as our nurse specialist and patient coordinator Patti Paulin, RN, all of whom specialize in the treatment of Wilson disease. The diagnosis of Wilson disease can be confusing, often leading to lengthy delays that can be frustrating and dangerous.

The Center hopes to increase and maintain quality of care. Treatments emphasize zinc acetate or zinc acetate in combination with trientine, although expertise is available for converting patients from penicillamine to zinc acetate and other medications such as tetrathiomolybdate may be available through experimental protocols. Dr. George Brewer, here at the University of Michigan, was instrumental in bringing zinc acetate through FDA approval in work performed in our clinical research center. The main challenge to accurate quantitation of copper is instrumentation and personnel, particularly if samples are rarely processed in a given laboratory. By concentrating analysis of urine, serum, and liver copper samples in a Center of Excellence, it is hoped that the samples may be analyzed more accurately, quickly, and consistently than if the samples were dispersed across hundreds of health care centers and diagnostic laboratories. By facilitating the mail in of samples, it is hoped that these services can be accessed throughout the world.

Patients visiting the Center can gather treatment recommendations that may vary with disease state and can be symptom specific. Neurologic signs include changes in speech (dysarthria), abnormal body postures (dystonia), rigidity, posture and gait abnormalities, tremor, facial expression changes, drooling, and weakness (paresis). Treatment of neurologic problems can focus on tremor, speech, and swallowing and gait problems, and can be addressed with medication, physical, and occupational therapy. The Center's expertise may prove useful as the diagnosis of Wilson disease is often confused with other neurologic diseases, including Parkinson disease, multiple sclerosis, hereditary ataxia, essential tremor, Huntington disease, and progressive pallidal degeneration. Psychiatric manifestations of Wilson disease can include frank psychosis, delusions and hallucinations, or more subtle signs, such as difficulties with school work or job performance, personality changes, temper, emotionality, loss of sexual inhibition, insomnia, and aggressiveness. It is important for the Center to assist in recognition of psychiatric complications including depression, decreased inhibition, mania, difficulty focusing, and interpersonal problems, to implement appropriate treatment.

Management of Wilson disease can include diet, nutrition, swallowing studies and management of difficulty swallowing. Diseases associated with Wilson disease include gallstones, epilepsy, migraine headaches, renal stones and hematuria, amenorrhea, osteoporosis and osteoarthritis, cataracts, and liver disease including rarely liver cancer. Genetic counseling, pedigree analysis, phenotype testing kids at age 5 and then every 5 years subsequently to age 15, as well as referral for haplotype analysis and genetic testing are all services available through the Center of Excellence. Pregnancy management includes medication adjustment, counseling on risk of having a child with Wilson disease, and referral for counseling on the impact of liver disease on pregnancy.

Liver disease management includes copper reduction, avoiding other insults, vaccination with hepatitis A and B vaccines, assessing for signs of liver failure induced confusion or encephalopathy, bleeding, fluid retention in the abdomen (ascites) and around the ankles. If these signs of decompensated cirrhosis are found, appropriate treatments can be recommended. As the liver scars over which is called cirrhosis, thin-walled blood vessels called varices which are most often found in the stomach or esophagus can dialate or break. Variceal bleeding, which is manifested by massive emesis of bright red blood, coffee ground material or passage of black tarry stools can be frightening. People at risk for variceal bleeding need to develop an action plan if it occurs, which includes recognizing that gastrointestinal bleeding is a medical emergency and promptly activating Emergency Services, which means calling 911 where available or calling other emergency help. Variceal bleeding can be treated with sclerotherapy, band ligation, medication, shunting (or rarely transplantation), and often improves with treatment of the underlying cause in the case of Wilson disease, which involves removing excess copper. The Wilson Disease Center of Excellence can help with variceal bleed risk management and education. People at risk for bleeding from liver disease should try to avoid aspirin, motrin, ibuprofen, as well as other NSAIDs, blood thinners, or medications that can be erosive to the esophagus or food pipe such as alendronate. Fluid retention or ascites can be treated with diuretics and salt restriction; it often improves in patients with Wilson disease as copper is removed.

The Wilson Disease Center of Excellence Clinic was formed in the hope that it would improve patient care, advance knowledge about Wilson disease, focus patients, collect information, study outcomes, facilitate communication and support, as well as offer referral to experimental protocol enrollment when appropriate. Yet, it must be recognized that challenges exist to the success of a center such as this one. Failing to serve a "critical mass" of Wilson disease patients would lead to a diminution in team skills, resources, and readiness to serve, and is probably the easiest challenge to overcome by increasing awareness of the center's services and making them easily available. Challenges to success of the Wilson disease Centers of Excellence also include lack of patient and physician awareness, cost of travel, sample collection and retrieval, complexity of insurance coverage and physician referral. The Center of Excellence is committed to lifelong care of chronic Wilson Disease that requires medication for prevention of complications. Compliance can be difficult particularly for people who do not have disease symptoms, for people who have an inability to focus, or for people who have depression. The Center for Excellence strives to increase compliance through patient education, support and follow-up, including routine testing of copper and zinc to improve compliance.

We are pleased to be a Wilson Disease Center of Excellence authorized by the Wilson Disease Association committed to optimizing Wilson Disease care, assisting in diagnosis and follow-up of people affected by Wilson disease, and communicating advances through a team of specialized Wilson disease providers. Clinics meet Friday afternoons with appointments scheduled by calling local number 734-936-0496 or toll free 1-800-395-6431, option 2. While the clinic is a fee-for-service clinic, we will strive to accommodate specific insurance needs or individual hardship when possible.

Clinical Trials - enrollment closed in current trials
Wilson Disease Association


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