Wilson Disease Questions & Answers

Updated: Feb 14, 2019
  • Author: Richard K Gilroy, MBBS, FRACP; Chief Editor: Praveen K Roy, MD, AGAF  more...
  • Print
Questions & Answers

Overview

What is Wilson disease?

What are the signs and symptoms of Wilson disease?

What are the signs of fulminant hepatic failure in Wilson disease?

What are the most common neurologic symptoms of Wilson disease?

What are frequent early neuropsychiatric symptoms of Wilson disease?

If left untreated, what neuropsychiatric manifestations may be present in Wilson disease?

What are psychiatric symptoms of Wilson disease?

What are the types of psychiatric abnormalities associated with Wilson disease?

What are musculoskeletal manifestations of Wilson disease?

What are hematologic and renal manifestations of Wilson disease?

What are Kayser-Fleischer rings in Wilson disease?

What are cardiac and dermatologic manifestations in Wilson disease?

What tests are performed in the workup of Wilson disease?

What are the treatment options for Wilson disease?

Which medications are used in the treatment of Wilson disease?

What is Wilson disease characterized?

What is the initial presentation of Wilson disease?

What is the importance of early diagnosis of Wilson disease?

What are the stages of Wilson disease?

What should be included in patient education about Wilson disease?

What causes Wilson disease?

What is the role of genetics in the etiology of Wilson disease?

What is the prevalence of Wilson disease?

At what age does Wilson disease typically present?

What is the prognosis of Wilson disease?

What are possible complications of Wilson disease?

Presentation

When should Wilson disease be suspected?

What are the neuropsychiatric symptoms of Wilson disease?

What are the types of neurologic symptoms in Wilson disease?

What are psychiatric symptoms of Wilson disease?

What are musculoskeletal symptoms of Wilson disease?

What are hematologic symptoms of Wilson disease?

What are renal symptoms of Wilson disease?

What are the symptoms of fulminant Wilson disease?

What are the physical findings of fulminant hepatic failure in Wilson disease?

What are the physical findings of CNS involvement in Wilson disease?

What are the ophthalmologic findings in Wilson disease?

What are less common physical findings of Wilson disease?

DDX

Which conditions should be included in the differential diagnoses of Wilson disease?

What are the differential diagnoses for Wilson Disease?

Workup

How is Wilson disease diagnosed?

What is the role of genetic testing in the evaluation of Wilson disease?

What is the role of abdominal imaging in the diagnosis of Wilson disease?

What is the role of electrocardiography (ECG) in the workup of Wilson disease?

What is the role of serum ceruloplasmin measurement in the workup of Wilson disease?

How is a urinary copper excretion rate used in the diagnosis of Wilson disease?

What is the role of hepatic copper concentration in the diagnosis of Wilson disease?

Which genetic tests are performed in the diagnosis of Wilson disease?

What is the role of radiolabeled copper testing in the workup of Wilson disease?

What is the role of cranial CT scanning in the workup of Wilson disease?

What is the role of brain MRI in the workup of Wilson disease?

What is the role of positron emission tomography (PET) scanning in the workup of Wilson disease?

What is the role of electron microscopic studies in the workup of Wilson disease?

Which histologic findings are characteristic of hepatic Wilson disease?

What are histologic findings characteristic of neurologic Wilson disease?

Treatment

How is Wilson disease treated?

What are dietary restrictions for the treatment of Wilson disease?

What are the increased risks during pregnancy among patients with Wilson disease?

How should Wilson disease be assessed in pediatric patients?

What is the presentation of Wilson disease in elderly patients?

How is neurologic deterioration managed in Wilson disease?

What are medicolegal concerns of Wilson disease?

Which specialist consultation are needed for the treatment of Wilson disease?

What is included in long-term monitoring of Wilson disease?

What is the role of molecular adsorbents recirculating system (MARS) in the treatment of Wilson disease?

Medications

What is the role of chelating agents in the treatment of Wilson disease?

Which medications are used to treat Wilson disease?

Which medications in the drug class Nutrients are used in the treatment of Wilson Disease?

Which medications in the drug class Chelators are used in the treatment of Wilson Disease?