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
Cerulopasmin level--> if low, then 24 h urine for copper excretion
Rule out other liver disease with labs, imaging: NAFLD/NASH, ETOH, hep B, Hep C, alpha-1 anti-trypsin, hemochromatosis, auto-immune hepatitis, DILI, other