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Wilson Disease Differential Diagnoses

  • Author: Richard K Gilroy, MBBS, FRACP; Chief Editor: Julian Katz, MD  more...
Updated: Jan 11, 2016

Diagnostic Considerations

Clinicians must maintain a high index of suspicion for Wilson disease, particularly in the presence of only mild elevation of transaminases, or isolated neuropsychiatric involvement.[2]

Conditions to consider in the differential diagnosis of Wilson disease might include the following:

  • Autoimmune chronic active hepatitis
  • Aceruloplasminemia
  • Glycogen-storage disease type 0
  • Glycogen-storage disease type I
  • Glycogen-storage disease type II
  • Glycogen-storage disease type III
  • Glycogen-storage disease type IV
  • Glycogen-storage disease type V
  • Glycogen-storage disease type VI
  • Glycogen-storage disease type VII
  • Hepatocellular adenoma
  • Cirrhosis
  • Multiple sclerosis
  • Huntington disease
  • Depression
  • Antisocial personality disorder
  • Parkinson disease
  • Leukodystrophy
  • CNS vasculitis
  • Leigh disease
  • Neurodegenerative disease
  • α1-antitrypsin deficiency
  • Chronic anemia
  • Hereditary hemochromatosis

Differential Diagnoses

Contributor Information and Disclosures

Richard K Gilroy, MBBS, FRACP Associate Professor, Medical Director of Liver Transplantation and Hepatology, Department of Internal Medicine, Kansas University Medical Center

Disclosure: Received salary from gilead, NPS pharmaceuticals, salix pharmaceuticals, AbbVie for speaking and teaching.


Rahil Shah, MD Consulting Staff, Lebanon Endoscopy Center

Rahil Shah, MD is a member of the following medical societies: American College of Gastroenterology, American Society for Gastrointestinal Endoscopy

Disclosure: Received consulting fee from Takeda for speaking and teaching.

Michael H Piper, MD Clinical Assistant Professor, Department of Internal Medicine, Division of Gastroenterology, Wayne State University School of Medicine; Consulting Staff, Digestive Health Associates, PLC

Michael H Piper, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Gastroenterology, American College of Physicians, Michigan State Medical Society

Disclosure: Nothing to disclose.

Chief Editor

Julian Katz, MD Clinical Professor of Medicine, Drexel University College of Medicine

Julian Katz, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Geriatrics Society, American Medical Association, American Society for Gastrointestinal Endoscopy, American Society of Law, Medicine & Ethics, American Trauma Society, Association of American Medical Colleges, Physicians for Social Responsibility

Disclosure: Nothing to disclose.


Erawati V Bawle, MD, FAAP, FACMG Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and American Society of Human Genetics

Disclosure: Nothing to disclose.

Selim R Benbadis, MD Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, Tampa General Hospital, University of South Florida College of Medicine

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association

Disclosure: UCB Pharma Honoraria Speaking, consulting; Lundbeck Honoraria Speaking, consulting; Cyberonics Honoraria Speaking, consulting; Glaxo Smith Kline Honoraria Speaking, consulting; Sleepmed/DigiTrace Honoraria Speaking, consulting; Sunovion Consulting fee None

Bruce Buehler, MD Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

Beth A Carter, MD Assistant Professor of Pediatrics, Department of Pediatric Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine; Medical Director, Pediatric Intestinal Rehabilitation Program, Texas Children's Hospital

Beth A Carter, MD is a member of the following medical societies: American Gastroenterological Association, American Liver Foundation, and North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Nothing to disclose.

Celia H Chang, MD Health Sciences Clinical Professor, Chief, Division of Child Neurology, Department of Neurology/MIND Institute, University of California, Davis, School of Medicine

Celia H Chang is a member of the following medical societies: American Academy of Neurology and Child Neurology Society

Disclosure: Nothing to disclose.

Robert J Fingerote, MD, MSc, FRCPC Consultant, Clinical Evaluation Division, Biologic and Gene Therapies, Directorate Health Canada; Consulting Staff, Department of Medicine, Division of Gastroenterology, York Central Hospital, Ontario

Robert J Fingerote, MD, MSc, FRCPC is a member of the following medical societies: American Association for the Study of Liver Diseases, American Gastroenterological Association, Canadian Medical Association, Ontario Medical Association, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Nestor Galvez-Jimenez, MD, MSc, MHA Chairman, Department of Neurology, Program Director, Movement Disorders, Department of Neurology, Division of Medicine, Cleveland Clinic Florida

Nestor Galvez-Jimenez, MD, MSc, MHA is a member of the following medical societies: American Academy of Neurology, American College of Physicians, and Movement Disorders Society

Disclosure: Nothing to disclose.

Christopher Luzzio, MD Clinical Assistant Professor, Department of Neurology, University of Wisconsin at Madison School of Medicine and Public Health

Christopher Luzzio, MD is a member of the following medical societies: American Academy of Neurology

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

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Computed tomography (CT) scan in a 15-year-old boy who presented with central nervous system findings consistent with Wilson disease. The CT scan reveals hypodense regions in the basal ganglia (caudate nucleus, putamen, globus pallidus). The differential diagnosis based on this image alone included leukodystrophy, vasculitis, and, less likely, infection. Ventricular enlargement and posterior fossa atrophy may also be seen on brain CT scans in a patient with Wilson disease. The extent of involvement as depicted on CT scans does not provide prognostic information.
Approach to the diagnosis of Wilson disease (WD) in a patient with unexplained liver disease. KF = Kayser-Fleischer ring; CPN = ceruloplasmin. From the American Association for the Study of Liver Diseases Practice Guidelines.
In this particular case, there is abundant Mallory hyaline. Another notable finding is the moderate to marked chronic inflammation which involved most portal tracts and periportal/perinodular areas.
Prismaflex eXeed II adds citrate anticoagulation with integrated calcium management. Image courtesy of Gambro.
Molecular adsorbents recirculating system (MARS) circuit.
Biopsy specimen showing hepatocellular injury in an explant specimen from a patient transplanted for Wilson Disease.
Biopsy specimen showing a more detailed image of the cellular injury in acute Wilson disease.
Wilson disease biopsy specimen with rhodanine stain.
Wilson disease biopsy specimen with rhodanine stain (stain specific for copper deposition).
Table. Prognostic Index in Fulminant Wilsonian Hepatitis
Serum bilirubin (reference range, 3-20 mmol/L)< 100100-150151-200201-300>300
Serum aspartate transaminase (reference range, 7-40 IU/L)< 100100-150151-200201-300>300
Prothrombin time prolongation (seconds)< 44-89-1213-20>30
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