Diagnostic Performance of Ultrasound Elastography and Serologic Fibrosis Indices for Evaluation of Hepatic Involvement in Wilson Disease

Abstract

Objectives-To investigate the diagnostic value of transient elastography (TE), 2-dimensional (2D) shear wave elastography (SWE), and the serologic fibrosis indices aspartate transaminase-to-platelet ratio index (APRI) and Fibrosis-4 (FIB-4) score for Wilson disease (WD). Methods-We retrospectively identified patients with a diagnosis of WD who underwent TE and 2D SWE on the same day. Their APRI and FIB-4 scores were calculated. Hepatic involvement was classified into 5 clinical categories (I-V) based on the laboratory findings, hepatic morphologic characteristics on ultrasound (US) imaging, and clinical symptoms of cirrhosis: I, normal (n = 17); II, only biochemical abnormality (n = 15); III, altered hepatic morphologic characteristics (n = 10); IV, compensated liver cirrhosis (n = 3); and V, decompensated liver cirrhosis (n = 0). We compared the area under the receiver operating characteristic curve (AUROC) data for TE, 2D SWE, the APRI, and the FIB-4 score. A combined assessment of the serologic markers and US elastography was performed, and the AUROCs of the combinations were compared. Results-Forty-five patients were included in the study (median age, 16.0 years; range, 3-35 years). Transient elastography, 2D SWE, and APRI were comparable in distinguishing the clinical categories (AUROC, 0.799-0.928). The FIB-4 score showed lower diagnostic value in distinguishing clinical category I from the other categories (AUROC, 0.647). Combining the serologic markers and US elastography significantly increased the AUROC value of the FIB-4 score (with TE and 2D SWE, P = .01 and .02). Conclusions-Transient elastography and 2D SWE showed excellent diagnostic accuracy for differentiating the clinical categories of hepatic involvement. The APRI showed better diagnostic performance than the FIB-4 score. The assessment of hepatic manifestations in WD can be improved by combining US elastography with serologic indices. Key Words-elasticity imaging techniques; liver fibrosis; ultrasound; Wilson disease W ilson disease (WD) is a congenital copper metabolism disorder that results in liver cirrhosis and neuropsychological deterioration due to copper accumulation in the liver and central nervous system. 1 Wilson disease is the manifestation of an abnormal ATP7B (ATPase copper-transporting beta) gene, which

Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

“…Transient elastography (TE) is an extended imaging technique, based on the measurement of tissue stiffness by ultrasounds, useful to ascertain the degree of hepatic fibrosis in several liver diseases, particularly in hepatitis C. Few studies have evaluated its performance as well as that of other non-invasive scores based on classical serum markers such as FIB-4 or APRI (AST-to-Platelet Ratio) in WD. TE solely or in combination with FIB-4 or APRI scores seems to provide an adequate positive predictive value (PPV) for diagnosis of advanced fibrosis and cirrhosis in WD patients [ 53 , 54 ]. Of note, the optimal threshold TE values reported in WD patients to discriminate cirrhosis (≥9.9 kpas) are notably lower than those for other liver diseases [ 53 , 55 , 56 ].…”

Noninvasive Pediatric Liver Fibrosis Measurement: Two-Dimensional Shear Wave Elastography Compared With Transient Elastography

“…Strong agreement between 2D-SWE and TE in the evaluation of liver fibrosis has been previously studied in a few adult cohorts ( 31 – 33 ) and two pediatric studies ( 9 , 21 ). Herein, we found a moderate concordance for liver fibrosis stages between 2D-SWE and TE, which could be explained by the technical differences between these methods ( 34 ) that may hinder direct comparison.…”

“…In children, liver fibrosis assessment in chronic liver diseases using 2D-SWE compared with liver histology showed good-to-moderate correlations with fibrosis stage [i.e., rho = 0.83 ( 3 ) and rho = 0.43 ( 27 )]. Although many authors have described use of 2D-SWE and TE in specific pediatric liver diseases such as biliary atresia ( 5 , 28 ), obesity ( 7 ), and Wilson disease ( 9 ), only one previous study reported a comparison of these two methods in various chronic liver diseases ( 21 ) (see Supplementary Table ). The moderate correlation herein between 2D-SWE and TE in children 6 years or younger could be a result of having a larger number of patients with no or low liver fibrosis in this age group and/or the narrower range of value for stages < F2 compared with those > F3.…”

“…In the past decades, noninvasive methods to assess and monitor liver fibrosis in children have been developed ( 1 ). Elastography methods have emerged as interesting alternatives to liver biopsy in the pediatric studies conducted on healthy patients or with various stages of liver fibrosis ( 2 – 4 ), particularly in biliary atresia ( 5 , 6 ), obesity ( 7 , 8 ) or Wilson's disease ( 9 , 10 ). Transient elastography (TE) is mechanic impulse elastography that has been validated against pediatric liver biopsy to evaluate histopathologic fibrosis stage in several indications (e.g., hepatitis, biliary atresia, nonalcoholic steatohepatitis) ( 11 – 13 ).…”

Liver Stiffness Assessed by Real-Time Two-dimensional Shear Wave Elastography Predicts Hypersplenism in Patients with Wilson’s Disease: A Prospective Study

“…Moreover, the study investigated the laboratory indicators but only FIB-4 and APRI were included for analyses. FIB-4 and APRI are commonly used for monitoring liver brosis in chronic hepatitis B and C as well as WD [21]. Whether the prediction e cacy of 2D-SWE will be affected when more laboratory indicators are added in the research needs further investigation.…”