Wilson's Disease Information & Support
Frequently Asked Questions
IMPORTANT POINTS ABOUT WILSON'S DISEASE:
Wilson's Disease (also known as hepatolenticular degeneration) is an
autosomal recessive inherited disease of impaired copper metabolism resulting
in copper toxicity. It affects approximately 1 in 40,000 people (approx. 6000
people in the USA, 150,000 worldwide), causing movement/speech disorders,
psychiatric manifestations and liver failure.
1) WILSON'S DISEASE IS
FATAL, USUALLY BY AGE 50, IF UNDIAGNOSED OR UNTREATED. DELAYED TREATMENT CAN
RESULT IN SEVERE, PERMANENT DISABILITY (SUCH AS BEING UNABLE TO TALK, WALK OR
EAT). CHILDHOOD DEATHS ARE NOT UNCOMMON, USUALLY CAUSED BY SUDDEN LIVER
FAILURE.
2) LIFETIME TREATMENT IS NECESSARY FOR ALL WILSON'S DISEASE
PATIENTS. NONCOMPLIANCE CAN BE FATAL.
3) BROTHERS & SISTERS OF
WILSON'S PATIENTS MUST BE TESTED EVEN IF THEY HAVE NO SYMPTOMS. THERE IS A 25%
CHANCE THAT THEY HAVE WILSON'S TOO.
4) CHILDREN OF WILSON'S PATIENTS
SHOULD ALSO BE TESTED FOR WILSON'S DISEASE BY AGE 5. THEY HAVE A 1 IN 200
CHANCE OF HAVING WILSON'S.
5) ZINC ACETATE (GALZIN) GIVEN AS A 50MG
CAPSULE THREE TIMES A DAY IS AN EFFECTIVE AND SAFE TREATMENT FOR NEW WILSON'S
PATIENTS THAT HAVE NO SYMPTOMS AND FOR MAINTENANCE TREATMENT OF ESTABLISHED
WILSON'S PATIENTS THAT HAVE ALREADY HAD INITIAL THERAPY.
6) TRIENTINE IS
THE SAFEST FDA APPROVED DRUG FOR THE INITIAL TREATMENT OF A WILSON'S PATIENT
THAT HAS SYMPTOMS.
7) YOU SHOULD SEEK A NEUROLOGIST OR
GASTROENTEROLOGIST FAMILIAR WITH THE BEST CURRENTLY RECOMMENDED MEANS OF
ACCURATELY DIAGNOSING AND TREATING WILSON'S DISEASE. THE PRACTITIONERS LISTED
BELOW CAN HELP POINT YOU IN THE RIGHT DIRECTION OR COULD ASSIST YOUR DOCTOR IN
YOUR CARE.
OTHER FREQUENTLY ASKED QUESTIONS ABOUT WILSON'S DISEASE DIAGNOSIS
& TREATMENT:
A) WHERE DO I GO FOR TREATMENT?
George Brewer, MD
Department of Human Genetics
University of Michigan
4708 Medical
Science II Box 0618
Ann Arbor, MI 48109-0618
Phone: (734) 764-5499
Fax: (734) 763-3784
e-mail: brewergj@umich.edu
Michael
Schilsky, MD
Division of Liver Disease
Mount Sinai School of
Medicine
Box 1633
One Gustave Levy Place
New York, NY 10029-6574
Phone: (212) 241-8339
Phone: (212) 241-1424 (Appt)
Fax: (212)
996-5149
e-mail: michael.schilsky@mountsinai.org
John Vierling, MD
Contact Nurse: Vesna Grubic
Cedar Sinai Liver
Center
8635 West 3rd Street Suite 590W
Los Angeles, CA 90048
Phone:
(310) 855-6139
Fax: (310) 967-0125
e-mail:
liver@csmc.edu
Kris Kowdley, MD
Associate Professor of Medicine
Division of Gastroenterology/Hepatology
University of Washington
Phone: (206) 598-2076
Fax: (206) 598-6706
e-mail: kkowdley@u.washington.edu
B) RISK OF ANEMIA WITH ZINC?
It is fairly rare, but can be due
to excessive reductions in copper. This is most common in patients who ingest a
vegetarian diet which is extremely low in copper. We prevent this anemia side
effect by screening urine samples for copper and zinc at least once a year
while people are taking zinc, and adjusting zinc dosing if copper levels get
too low. This is never an issue until people have been on copper reducing
agents for years, and it is seldom an issue even then. The anemia caused by
copper deficiency can mimic the anemia caused by iron deficiency, the red blood
cells are microcytic or smaller than usual. Fortunately, if the anemia is
caused by copper deficiency, it means that copper levels are well reduced.
C) NEED FOR LIVER TRANSPLANT?
Most patients with Wilson's
disease and cirrhosis with or without portal hypertension who are doing well
with medical treatment do not need liver transplants. Only when the liver
disease decompensates or recurrent complications from the portal hypertension -
eg: recurrent variceal bleeding. A large spleen, abnormal clotting and low
platelets will remain in many patients, and will not significantly worsen if
they continue to take their medications for Wilson's disease and avoid other
liver injury (ie: alcohol, viral hepatitis). The indications for transplant
remain fulminant liver failure, failure of initial therapy to stabilize the
disease in patients with severe hepatic insufficiency, and decompensation after
stopping therapy.