Wilson's disease physical examination

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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 usually appear tired. Physical examination of patients with Wilson's disease is usually remarkable for jaundice and easy bruising in the skin. Physical examination also is remarkable for Kayser Fleischer ring in the eyes as a result of the copper accumulation in the cornea. Common physical examination findings in the abdomen include abdominal tenderness , ascites, and spider angiomata. Common neurolopsychiatric signs include seizures, parkinsonism like signs, depression, and anxiety.

Physical examination

Appearance of the patient

• Patients with Wilson's disease mostly appear tired due to the hepatic involvement.

Vitals

• Low blood pressure may be present in shock liver.
• Hypothermia / hyperthermia may be present.

Skin

• Jaundice
• Easy bruising (bleeding tendency)

HEENT

• Icteric sclera
• Kayser Fleischer ring in the eyes

Abdomen

• Abdominal tenderness
• Hepatosplenomegaly
• Ascites
• Spider angiomata (in cases with cirrhosis)
• Esophageal varices

Heart

• Cardiomyopathy
• Cardiac arrhythmia

Neuromuscular

• Neurologic manifestations of Wilson's disease include the following:
  • Parkinsonism like signs such as:
    • Bradykinesia
    • Cogwheel rigidity
    • Lack of balance
  • Seizures
  • Migrane
  • Frontal lobe disorder with the following signs:
    • Impaired judgement
    • Apathy
    • Poor planning
  • Psychiatric features such as:
    • Depression
    • Psychosis
    • Anxiety