Safety of Biopsy Techniques for Hirschsprung Disease

Safety of Biopsy Techniques for Hirschsprung Disease

Hirschsprung Disease (HD) is due to aganglionosis of the colon that presents in the distal colon and then proximally. HD typically presents in the first few days of life, and early diagnosis is imperative to provide corrective surgery and to prevent complications such as enterocolitis. Several colonic biopsy techniques exist which help determine the presence of HD, and the authors of this study performed a meta-analysis using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement (PRISMA) for patients younger than 18 years of age with potential HD. All included studies had to include at least 5 patients or at least 5 rectal biopsy specimens. Biopsy types included suction, open surgical, endoscopic, or punch biopsy. Various staining techniques to diagnose HD included hematoxylin and eosin staining, acetylcholinesterase staining, and calretinin staining.

Although an initial analysis by text and abstract screening produced 469 articles, only 159 articles met inclusion criteria after full-text review. A total of 300 patients in the meta-analysis underwent endoscopic biopsy while 3369 patients underwent open biopsy, 1507 underwent punch biopsy, and 20,775 patients underwent suction biopsy. The mean age of patients ranged from 27.84 months (suction biopsy group) to 50.40 months old (punch biopsy group). Interestingly, although no significant difference was present between the conclusive rate result of the various biopsy techniques, the heterogeneity between meta-analysis of biopsy types (using the I2 statistic) was significant (P<0.001). Funnel plot analysis for suction biopsy and open biopsy suggested a possible publication bias.

There was no difference in age (defined as less than 36 months of age and greater than 36 months of age) for conclusive results for patients undergoing suction rectal biopsy, and not enough evidence was available to determine effectiveness of results using the other rectal biopsy techniques. No difference was seen between the various staining techniques in determining conclusive results for HD; however, there was significant study heterogeneity between staining types (P<0.001). Various staining techniques were not significantly different for patients undergoing open surgical biopsy for HD although significant heterogeneity existed between the study groups (P<0.001) while no significant heterogeneity existed for patients undergoing suction rectal biopsy. Finally, the pooled complication rate for the various biopsy techniques was 2% with a significant rate of complications noted for patients receiving punch biopsy versus those receiving suction biopsy.

This study demonstrates that all biopsy techniques for the diagnosis of HD likely are equal in their capacity to generate conclusive results. The authors state that the safety of suction rectal biopsy (including the potential lack of need of sedation) makes it a first-line method for diagnosing HD in children.

Comes G, Ortolan E, Moreira M, de Oliveira Junior W, Angelini M, El Dib R, Lourencao P. Rectal biopsy technique for the diagnosis of Hirschsprung disease in children: a systematic review and meta-analysis. Journal of Pediatric Gastroenterologists and Nutrition 2021; 72: 494-500.

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