Note: We will update this page soon with the American Association for the Study of Liver Diseases updated guidelines for the treatment and diagnosis of Wilson disease.

How is Wilson disease diagnosed?

Diagnosis of Wilson disease is often not straightforward. Many tests are usually necessary, and sometimes some of the test results may be inconclusive. No one test is sufficient for a diagnosis, and test results must be considered along with with any symptoms or pre-existing conditions that are also present.

Diagnosing Wilson disease is challenging for even the most experienced doctors since it can masquerade as many other disorders and is often misdiagnosed, sometimes for many years. Early diagnosis and proper treatment is essential to prevent progression of the disease. The WDA Centers of Excellence provide physicians who are well trained in the diagnosis and treatment of Wilson disease. Please click here for a list of our Centers of Excellence in the United States and other countries. Your personal physician can also get in touch with these physicians for more information.

If you don’t live near a WDA Center of Excellence, or can’t travel to one, the following list of physicians may be another resource to consider. These physicians and health care professionals have been recommended by WDA members and have given permission to be included in the list. In some cases the doctors have contacted the WDA because they treat Wilson disease patients and would like to help other patients.

The diagnosis of Wilson disease is made by relatively simple tests. The tests can diagnose the disease in both symptomatic patients and people who show no signs of the disease. These tests can include:

  • Opthalmalogic slit lamp examination for Kayser-Fleischer rings.
  • Serum ceruloplasmin test.
  • 24-hour urine copper test.
  • Liver biopsy for histology and histochemistry and copper quantification.
  • Genetic testing, haplotype analysis for siblings and mutation analysis.

It is important to diagnose Wilson disease as early as possible, since severe liver damage can occur before there are any signs of the disease. Individuals with Wilson disease may falsely appear to be in excellent health.

Approach to Diagnosis

We strongly suggest making an appointment at one of our Centers of Excellence for a diagnosis if possible.

Physician Contacts

Dadour V. Dadourian
Adresss:  14 de Julio 1526
Buenos Aries (CP: C1430ENB), Argentina
Home Phone:  +54 (11) 4552-8556
Cell Phone:  +54 (911) 5577-7293
Email:  [email protected]

Prof. Dr. Peter Ferenci
Dept. Internal Medicine IV
Gastroenterology and Hepatology
University of Vienna
Vienna General Hospital (AKH)
Waehringer Guertel 18-20
A 1090 Wien
Austria
Phone: 43 1 40400 4741
Fax: 43 1 40400 4735

Dr. Egberto Reis Barbosa
Dept. of Clinical Neurology
Hospital das Clinicas da USP
Rua Dr, Eneas de Carvalho Aguiar – 225
CEP 05403-000
Brazil
E-mail: [email protected]

Dr. Eduardo Cancado
Department of Gastroenterology
Hospital das Clinicas da USP
Rua Dr, Eneas de Carvalho Aguiar – 225
CEP 05403-00
Brazil
Email: [email protected]
Website:  www.doencadewilson.org/

Dr. Eve Roberts
Hospital for Sick Children
Phone: (416) 813-7733
Email: [email protected]

Diane W. Cox, Ph.D, FCCMG, FRSC
Professor of Medical Genetics
Department of Medical Genetics
8-39 Medical Sciences Building (office 43B)
University of Alberta
Edmonton, Alberta T6G 2H7
Phone: 780-492-7501 (direct)
Medical Genetics Office: 780-492-0874 (Secretary)
Fax: 780-492-1998

Dr. Francisto J. Heiva
Escuela autonoma de Ciencias Medicas
Dr. A.V. Guzman
Aoartado 77-1007
San Jose
Costa Rica

Richard Hodes, M.D., F.A.C.P.
P.O. Box 7600
Addis Ababa
Ethiopia
Phone: 251-1-613827/27
Fax: 251-1-612855

Prof. Wolfgang Stremmel, M.D.
University Hospital of Heidelberg
Department of Internal Medicine IV
Im Neuenheimer Feld 410
D-69120 Heidelberg
Germany
Phone: +49 6221 5687-01
Fax: +49 6221 564116

Dr. Karl Heinz Weiss
University Hospital of Heidelberg
Department of Internal Medicine IV
Im Neuenheimer Feld 410
D-69120 Heidelberg
Germany
Phone: +49-6221 56-37911
Fax: +49-6221 56-5255

Dr Sharat Varma
DNB, PhD (Paediatric hepatology)
European board certified in liver transplantation

Clinical lead consultant
Paediatric hepatology and gastroenterology
Max Hospitals – New Delhi (Saket, Gurgaon and PPG)
Email:  [email protected]
Phone: +91-11-66115050
Phone: +91-789-981-3007


ROWIKEM

Dr. Ashish Bavdekar
Associate Consultant
Pediatric Gastroenterologist
Liver and Gastroenterology Unit
Department of Pediatrics
T.D.H. Building, Ground Floor
K.E.M. Hospital, Rasta Peth
Pune 411011
India
Phone: 91-20-4037342/5538728
Mobile: 98220 56174
Fax: 91-020-6125603
E-mail: [email protected] or [email protected]
Clinics for Wilson’s Disease:
Mondays and Thursdays 11:00 a.m. – 1:00 p.m.

India – Mumbai
E-mail: [email protected]
Clinics for Wilson’s Disease Patients:
Monday, Wednesday and Friday: (4:00 p.m. to 6:00 p.m.)
For appointments, phone: 91-22- 24222160 (after 4 pm)

Dr. Aabha Nagral,
Consultant Adult and Pediatric Hepatologist
O-18, Bhavna Building 2nd floor
Veer Savarkar Road
Prabhadevi Clinic
Mumbai-400025
India

Prof. Yaron Ilan, M.D.
Liver and Gastroenterology Units
Department of Medicine
Hadassah University Hospital
P.O. Box 12000, 91120 Jerusalem
Israel
Phone: 972-2-6420338
E-mail: [email protected]

Dr. Ran Oren
Liver Unit
Urasky Medical Center
Tel Aviv
Israel
Phone: 972-3-6974280

Dr. Giacomo Carlo Sturniolo
Universita Degu Studi Di Padova
Dept. Scienze Chirurgiche e Gastroenterologishce
Div. Gastroenterologia, Via Giustiniani, 2
Padova 35127
Italy
Phone: +39-49-8218726
Fax: +39-49-8760820
E-mail: [email protected]

Massimo Zuin, M.D.
San Paolo School of Medicine – Clinica Medica
University of Milan
via A. Di Rudinì, 8
Milan 20142
Italy
Phone: +39.02.89129975
Fax +39.02.89123960
E-mail: [email protected]

Kenji Nakayama, Ph.D.
Department of Clinical Pathology
Hokkaido Institute of Public Health
Phone: +81-11-747-2211 (Ex. 731)
Fax: +81-11-736-9476

Natalia Mocanu, MD
National Center for Reproductive Health and Medical Genetics
Str. Buresbista 82
2062 Chisinau
Republic of Moldova
phone/fax: +373 22 568466
email: [email protected]

Edward J. Gane, MBchB, M.D., FRACP
Associate Professor of Medicine
New Zealand Liver Transplant Unit
Auckland Hospital
Park Road
Auckland
New Zealand
Phone: 00-649-529-4001
Fax: 00-649-529-4061
Mobile: 00-64-21-548-371 (LIVER1)

Anna Czlonkowska, M.D.
2nd Neurology
Institute of Psychiatry and Neurology
02 957 Warsaw, Poland
[email protected]
+48 691 859 956

Cristina Maria Mihai, M.D.
Constanta County Hospital
Pediatric Department, 8-th Floor
145 Tomis Boulevard
Constanta 900591
Romania
Phone/Fax: +40 241 553334
E-mail: [email protected]

Razvan Iacob, M.D.
Institutul Clinic Fundeni
Centrul de Gastroenterologie si Hepatologie
Sos. Fundeni 258
022328 Bucuresti, sector 2
Romania
phone/fax: +40 21 2410450

Slobodan Kazic,M.D.
Zvezdara Hospital
Dimitrija Tucovica 161
11000 Belgrade
Serbia
e mail: [email protected]
Phone: +38 111 241 0275

California

Lorenzo Rossaro, M.D.
Professor and Chief
Division of Gastroenterology and Hepatology
University of California, Davis
Internal Medicine – Transplant
HSF 2nd Floor
2233 Stockton Blvd.
Sacramento, CA 95817
Phone: (916) 734-8686
Fax: (916) 734-8698
E-mail: [email protected]

Henrietta Salazar
UCLA School of Medicine
Department of Neurology
710 Westwood Plaza
Los Angeles, CA 90095
USA
Phone: (310) 206-9799
Fax (310) 206-9819
E-mail: [email protected]

Valentina Medici MD, FAASLD
Department of Internal Medicine
Division of Gastroenterology and Hepatology
University of California Davis
Sacramento, California
[email protected]
phone 916 734 3751

Connecticut

Pramod K. Mistry, MD, PhD, FRCP, FAASLD,
Professor of Medicine and Pediatrics,
Professor of Cellular & Molecular Physiology,
Pramod K. Mistry MD, PhD
Internal Medicine
Yale School of Medicine and Yale New Haven Hospital.
New Haven, CT
[email protected]
203 785 3412

Dr. Michael Schilsky
Yale University School of Medicine
333 Cedar Street/1080 LMP
P.O. Box 208019
New Haven, CT 06520-8019
E-Mail: [email protected]
To schedule an appointment with Dr. Schilsky,
contact Ms. Eta Kaplan at 203-737-1592

Georgia

Lance L Stein MD
Piedmont Transplant Institute
Piedmont Atlanta Hospital
(Additional satellite clinic office locations in Athens, Albany, Dalton, Macon, savannah – all in Georgia)
Clin asst prof of medicine, Mercer university school of medicine
1968 Peachtree Road NW
77 Building, 5th Floor
Office 404-605-4669
[email protected]

Michigan

University of Michigan Hospital
Fred Askari, M.D., Ph.D.
Director
Associate Professor
University of Michigan Hospital
Liver Clinic
1st floor Taubman Center Area G
Ann Arbor, Michigan 48109
Phone: 800-333-9013
Fax: 734-763-4574
Appointments 800-333-9013
E-mail: [email protected]

Dr. George Brewer
Phone:  734-332-7810
E-mail: [email protected]

Dr. Joseph Eisenach
Phone: (816) 478-2000
E-mail: [email protected]

New York

Elizabeth Verna, MD
Columbia University Medical
633 W 168th Street
New York, NY 10032
202-305-0914

Miodra Velickovic, M.D.
Movement Disorders Center
Box 1637
Department of Neurology
The Mount Sinai Medical Center
5 East Street, 1st Floor
New York, NY 10029-6574
Phone: (212) 241-5607
E-mail: [email protected]

Ohio

Pierre M. Gholam, MD, FAASLD, AGAF
Medical Director, Liver Center of Excellence
Digestive Health Institute
University Hospitals Cleveland Medical Center
Director, Multidisciplinary Hepatobiliary Tumor Program
Seidman Cancer Center
Professor of Medicine
Division of Gastroenterology and Liver Disease
Case Western Reserve University School of Medicine
11100 Euclid Avenue
Cleveland OH 44106
P (216) 286-6757
F (216) 844-7480

James Squireds, MD
Veena Venkat, MD
Simon Horslen, MD
Children’s Hospital Pittsburg
4401 Penn Avenue
Pittsburg, PA 15213
412-692-5180

Arthur Mcullough, MD
Cleveland Clinic
9500 Euclid Avenue
Cleveland, OH 44195
216-444-6526 (apt)
216-444-6521 (desk)
216-444-2766 (Hepatology dept)

Tennessee

Peter Hedera, M.D.
Assistant Professor
Department of Neurology
Vanderbilt University
465 21st Avenue, South
6140 MRB III
Nashville, TN 37232-8552
USA
Phone: (615) 936-3920
Fax: (615) 322-5517
E-mail: [email protected]

Texas

Tamir Miloh, MD
Director of Pediatric Hepatology and Liver Transplant Medicine
Texas Children’s Hospital
Associate Professor, Baylor College of Medicine
Phone: 832-822-3671
[email protected]

Washington

Sihoun Hahn, M.D., Ph.D.
Director, Biochemical Genetics Program
Seattle Children’s Hospital
4800 Sand Point Way NE, Mailstop: B-6594
Seattle, WA 98105
Phone: 206-987-7610
E-mail: [email protected]

The pediatric team will see adult patients at the University of Washington.
For information/appointments (pediatric and adult) please contact:
Ashley Atkinson, RN, BSN, CPON
Appointments: Fax referral and records to (206) 985-3121
E-mail: [email protected]

Kris Kowdley, M.D.
Associate Professor of Medicine
Division of Gastroenterology/Hepatology
University of Washington
Seattle, WA
Phone: (206) 598-2076
Fax: (206) 598-6706
E-mail: [email protected]

Dr. Godfrey Gillett
Consultant, Clinical Biochemistry, Inherited
Metabolic Disease in Adults
Clinical Chemistry
Northern General Hospital
Herries Road
Sheffield S5 7AU
United Kingdom
Phone: +44 114 271 4316
fax: +44 114 271 4505

Hoang Le Phuc, MD
Head
Department of Gastroenterology
Children’s Hospital #1
341 Su Van Hanh
Ho Chi Minh City
Vietnam
[email protected]

WILSON DISEASE ASSOCIATION

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