Wilson's Disease

Your Path

  • Wilson's Disease

Etiology

  • Autosomal recessive genetic d/o leading to copper deposition in multiple organs (liver, neuro) w/subsequent dysfxn

Risk Factors

  • Age 20-40

Symptoms

  • Range of behavioral/psychiatric symptoms including: depression, personality changes, psychosis, progressive confusion
  • Rest and action tremor
  • Dystonic movements
  • Can appear Parkinsonian (shuffling gait, stiffness, bradykinesia, soft voice, dysarthria)
  • Sx related to chronic or acute liver dysfunction
  • Sometimes neuro-psychiatric features predate evidence of liver disease; can also present with acute liver dysfunction
  • Can have sob, fatigue, weakness from associated autoimmune hemolysis

Physical Exam Findings

  • Weakness
  • Numbness
  • Decreased coordination
  • Flapping-type tremor, exacerbated w/arms abducted, elbows bent, fingers pointed towards one another
  • Dystonic movements
  • Kayser-Fleischer rings (symmetric, brownish rings around iris)
  • Jaundice, hepatomegaly, confusion, other findings of chronic or acute liver dz (icterus, jaundice, ascites, edema, UGI bleeding, etc.).

Tests