Wilson disease

info · Genetic · ICD-10: E83.01

A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.

Signs and symptoms

Rigidity
Hypoalbuminemia
Abdominal distention
High nonceruloplasmin-bound serum copper
Decreased circulating ceruloplasmin concentration
Ascites
Increased urinary copper concentration
Abnormality of extrapyramidal motor function
Portal fibrosis
Edema

Medications that may treat it

penicillamine trientine

Also known as: Cerebral pseudosclerosis; Westphal pseudosclerosis; Westphal-Strumpell syndrome; Wilson's disease; hepatolenticular degeneration