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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.
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