Wilson’s Disease

Wilson’s Disease

Pathology:,               Copper accumulation in liver and brain


Aetiology:                 Autosomal recessive condition, which causes impaired cellular copper transportation, usually young (usually around 16 years old).


Symptoms:               Depression, tremor, jaundice if cirrhotic


Signs:                          Jaundice, Kayser-Fleischer rings, tremor, parkinsonism, cerebellar and pyramidal signs


Investigations:      Bloods: Decreased serum ceruloplasmin.

Urine: Increased 24 hour urinary copper collection

Liver Biopsy: Increased hepatic copper concentration


Treatment:              Medical: Lifelong Copper chelation therapy (penicillamine and trientine)

                                        Surgical: Liver transplantation


Complications:      Cirrhosis, psychiatric illness, liver failure


Prognosis:               Successful liver transplant can cure the condition


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