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2008 ; 48
(4
): 1167-74
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Screening for Wilson disease in acute liver failure: a comparison of currently
available diagnostic tests
#MMPMID18798336
Korman JD
; Volenberg I
; Balko J
; Webster J
; Schiodt FV
; Squires RH Jr
; Fontana RJ
; Lee WM
; Schilsky ML
Hepatology
2008[Oct]; 48
(4
): 1167-74
PMID18798336
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Acute liver failure (ALF) due to Wilson disease (WD) is invariably fatal without
emergency liver transplantation. Therefore, rapid diagnosis of WD should aid
prompt transplant listing. To identify the best method for diagnosis of ALF due
to WD (ALF-WD), data and serum were collected from 140 ALF patients (16 with WD),
29 with other chronic liver diseases and 17 with treated chronic WD.
Ceruloplasmin (Cp) was measured by both oxidase activity and nephelometry and
serum copper levels by atomic absorption spectroscopy. In patients with ALF, a
serum Cp <20 mg/dL by the oxidase method provided a diagnostic sensitivity of 21%
and specificity of 84% while, by nephelometry, a sensitivity of 56% and
specificity of 63%. Serum copper levels exceeded 200 microg/dL in all ALF-WD
patients measured (13/16), but were also elevated in non-WD ALF. An alkaline
phosphatase (AP) to total bilirubin (TB) ratio <4 yielded a sensitivity of 94%,
specificity of 96%, and a likelihood ratio of 23 for diagnosing fulminant WD. In
addition, an AST:ALT ratio >2.2 yielded a sensitivity of 94%, a specificity of
86%, and a likelihood ratio of 7 for diagnosing fulminant WD. Combining the tests
provided a diagnostic sensitivity and specificity of 100%. CONCLUSION:
Conventional WD testing utilizing serum ceruloplasmin and/or serum copper levels
are less sensitive and specific in identifying patients with ALF-WD than other
available tests. More readily available laboratory tests including alkaline
phosphatase, bilirubin and serum aminotransferases by contrast provides the most
rapid and accurate method for diagnosis of ALF due to WD.
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