Wilson's Disease with Acute Hepatic Onset: How to Diagnose and Treat It

Abstract

Wilson's disease (WD) with acute onset poses a diagnostic challenge because it is clinically indistinguishable from other acute liver diseases. In addition, serum ceruloplasmin and urinary copper excretion, the first-line diagnostic tools for WD, can show false positive results in the case of acute liver failure, and the diagnostic role of genetic analysis is limited by the time required to perform it. In the case of fulminant onset, there is a clear indication of liver transplantation. "New Wilson Index" is frequently used to discriminate between patients who need liver transplantation versus those who can be successfully managed by medical treatment, but its reliability remains controversial. Timely referral of patients with acute liver failure due to WD may be a key factor in improving patient survival. Although liver transplant very often represents the only chance for such patients, maximum effort should be made to promote survival with a native liver. The management of these aspects of WD is still a matter of debate and will be the subject of this review.

Keywords: acute hepatitis; acute liver failure; ceruloplasmin; copper; liver transplantation.

Figure 1

Characteristic pattern of ALF-WD. Data from Refs [.32].

Figure 2

Proposed flow chart to approach pediatric patient with acute liver disease focused to diagnose Wilson’s disease. Abbreviations: LFTs, liver function tests; CBC, cell blood count; INR, international normalized ratio; WD, Wilson’s disease; UCE, urinary copper excretion; ALF, acute liver failure; AP, alkaline phosphatase; AST, aspartate aminotransferase; ALT, alanine aminotransferase [20].