Role of percutaneous liver biopsy in infantile cholestasis: cohort from Arabs

Abstract

Background Investigators from different parts of the world are calling for a re-evaluation of the role of liver biopsy (LB) in the evaluation of infantile cholestasis (IC), especially in the light of emerging non-invasive diagnostic technologies. Therefore, this retrospective single-center study was conducted to determine the impact of LB on the diagnosis and management of IC in a cohort from Arabs. Methods From 2007 until 2019, 533 cases of IC were referred for evaluation. All infants who underwent LB were included in the study. We categorized the yield of LB into: (1) defined specific diagnosis; (2) excluded an important diagnosis. A single pathologist reviewed and made the histology report. Results 122 LB specimens met the inclusion criteria. The main indication for LB was a high suspicion of biliary atresia (BA) [high gamma-glutamyl transferase (GGT) cholestasis and pale stool] in 46 cases (37.8%). Liver biopsy had sensitivity of 86.4%, specificity (66.7%), PPV (70.4%), NPV (84.2%) in diagnosing BA. LB had a direct impact on clinical management in 52 cases (42.6%): (1) The true diagnosis was suggested by LB in 36 cases; (2) LB excluded BA and avoided intraoperative cholangiogram in 16 cases with high suspicion of BA. Among the 76 cases with low suspicion of BA, LB suggested the true diagnosis or helped to initiate specific management in 8 cases only (10.5%). In contrast, molecular testing confirmed the diagnosis in 48 (63%). Conclusion LB continues to be an important tool in the workup of cases with a high suspicion of BA. The low yield of LB in cases with low suspicion of BA calls for a re-evaluation of its role in these cases in whom early incorporation of cholestasis sequencing gene panels can have a better diagnostic yield.

Development and Assessment of Screening Nomogram for Biliary Atresia Based on Hepatobiliary Ultrasonographic Features

“…Commonly, the early confirmation of BA diagnosis is still adjudicated by surgical cholangiography and intraoperative liver biopsy (15). Besides, precise early BA screening and diagnosis could avoid unnecessary examinations and adverse procedures, which would prolong patients' recovery time and required intensive post-operation care (6). Even though several diagnostic markers and prediction models have been proposed to facilitate effective BA diagnosis, all of them have displayed either unsatisfactory sensitivity and specificity or limited applicability or accessibility in the hospital setting (16)(17)(18)(19).…”

“…Since the report of triangular cord sign, many other more studies started using sonographic features like hepatic artery enlargement to assist BA early diagnosis. Prior studies have noted that the sensitivity and specificity of the enlargement of hepatic artery varied from 72 to 100% and from 70 to 89%, respectively (6,23). The main limitations of the triangular cord sign and hepatic artery enlargement are the requirement for qualified and experienced pediatric radiologists and strictly following the detailed US protocol, which is hard to perform in the real world.…”

“…Therefore, the greatest challenge is screening and diagnosing the BA as early as possible in the early phase of life. Even today, the confirmative BA diagnosis still relies on invasive surgical cholangiography and intraoperative liver biopsy, which are relatively time-consuming and costly (6,7).…”

Clinical, Biochemical, and Molecular Characterization of Neonatal-Onset Dubin–Johnson Syndrome in a Large Case Series From the Arabs

“…Of note, the hepatic steatosis observed in one of our patients, was also reported in five neonatal-onset DJS patients from Japan ( 9 , 21 ). Therefore, DJS should be added to the list of differential diagnoses of NC associated with hepatic steatosis ( 22 ).…”

Urinary tetrahydroxy bile acids investigation in infantile cholestasis

“…However, ductular proliferation may also be prominent in early infancy and can refer to a dilemma. Proofs of massive duct biliary obstruction raise the concern for biliary atresia (Ahmed et al, 2021).…”