Internal Medicine

0521779407-23 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:24

Wilson’s Disease 1555

■Serum alkaline phosphatase often low in fulminant hepatitis

■Serum free copper concentration typically >0.25 mg/L in symp-

tomatic patients

Basic Tests: Urine

■24-hour urine copper excretion may be normal in asymptomatic

patients; usually >100μg per day in symptomatic patients & fre-

quently >1,000 in fulminant hepatitis

Specific Diagnostic Tests

■Incorporation of radiolabelled copper into ceruloplasmin: rarely

used; may be useful when liver biopsy contraindicated

■DNA linkage analysis: expensive; can be performed only within fam-

ilies with established diagnosis of Wilson’s in one member

Imaging

■Abdominal sonogram or CT scan: nondiagnostic

Liver Biopsy

■Hepatic copper concentration >250μg per gram of dry liver tissue

AND low ceruloplasmin usually seen in homozygous Wilson’s

differential diagnosis

■Elevated hepatic copper concentration <250μg/g in cholestatic dis-

orders, Indian childhood cirrhosis, and idiopathic copper toxicosis

■Other causes of chronic liver disease

management

What to Do First

■Evaluate severity of liver disease, extrahepatic complications, and

patient’s candidacy for therapy

General Measures

■Adjust or avoid potentially hepatotoxic agents

■Evaluate liver disease with history, physical, CBC, LFTs, INR

■Check serum ceruloplasmin & 24-hour urine copper excretion; if

possible, liver biopsy for hepatic copper quantitation

specific therapy

Indications for Treatment

■Medical therapy to improve symptoms & prevent disease progres-

sion.

■Liver transplantation for fulminant hepatitis or decompensated cir-

rhosis