Wilson's disease history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]

Overview

Patients with Wilson’s disease may remain asymptomatic until the copper deposits in the liver and brain mainly. Common hepatic symptoms include abdominal distension, abdominal pain, fatigue, bleeding tendency, and esophageal varices. Common neuropsychiatric symptoms include tremors, ataxia, dysarthria, and impulsiveness. Less common symptoms of wilson’s disease include urolithiasis and hematuria.

Family history of Wilson’s disease in any other family member is important in the diagnosis as Wilson’s disease is usually inhereted.

Patients with Wilson’s disease may remain asymptomatic until the copper deposits in the liver and brain mainly. ^[1]
Advanced cases of Wilson’s disease can be presented as hepatic failure or chronic liver disease which may be associated with cirrhosis. Neurological and psychiatric manifestations are also present in most cases.
Common symptoms of Wilson’s disease include the following: ^[2]^[3]
- Hepatic symptoms:
  - Abdominal distension
  - Abdominal pain
  - Fatigue
  - Bleeding tendency
  - Confusion
  - Esophageal varices
  - Spider naevi (When associated with cirrhosis)
- Neuropsychiatric symptoms:
  - Tremors
  - Ataxia
  - Dysarthria
  - Dystonia
  - Excessive salivation
  - Impulsiveness
  - Schizophrenic disorders
  - Anxiety
  - Depression

Less common symptoms of Wilson’s disease include the following:
- Renal symptoms:
  - Urolithiasis
  - Hematuria