Screening for Wilson disease in acute liver failure: A comparison of currently available diagnostic tests

Jessica D. Korman, Irene Volenberg, Jody Balko, Joe Webster, Frank V. Schiodt, Robert H. Squires, Robert J. Fontana, William M. Lee, Michael L. Schilsky, Julie Polson, Carla Pezzia, Ezmina Lalani, Linda S. Hynan, Joan S. Reisch, Anne M. Larson, Hao Do, Jeffrey S. Crippin, Laura Gerstle, Timothy J. Davern, Katherine PartoviSukru Emre, Timothy M. McCashland, Tamara Bernard, J. Eileen Hay, Cindy Groettum, Natalie Murray, Sonnya Coultrup, A. Obaid Shakil, Diane Morton, Andres T. Blei, Jeanne Gottstein, Atif Zaman, Jonathan Schwartz, Ken Ingram, Steven Han, Val Peacock, Robert J. Fontana, Suzanne Welch, Brendan McGuire, Linda Avant, Raymond Chung, Deborah Casson, Robert Jr Brown, Laren Senkbeil, M. Edwyn Harrison, Rebecca Rush, Adrian Reuben, Nancy Huntley, Santiago Munoz, Chandra Misra, Todd Stravitz, Jennifer Salvatori, Lorenzo Rossaro, Colette Prosser, Raj Satyanaryana, Wendy Taylor, Raj Reddy, Mical Campbell, Tarek Hassenein, Fatma Barakat, Alistair Smith

Research output: Contribution to journalArticle

154 Scopus citations

Abstract

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 μg/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.

Original languageEnglish (US)
Pages (from-to)1167-1174
Number of pages8
JournalHepatology
Volume48
Issue number4
DOIs
StatePublished - Oct 1 2008

ASJC Scopus subject areas

  • Hepatology

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    Korman, J. D., Volenberg, I., Balko, J., Webster, J., Schiodt, F. V., Squires, R. H., Fontana, R. J., Lee, W. M., Schilsky, M. L., Polson, J., Pezzia, C., Lalani, E., Hynan, L. S., Reisch, J. S., Larson, A. M., Do, H., Crippin, J. S., Gerstle, L., Davern, T. J., ... Smith, A. (2008). Screening for Wilson disease in acute liver failure: A comparison of currently available diagnostic tests. Hepatology, 48(4), 1167-1174. https://doi.org/10.1002/hep.22446