Development of European Consensus Guidelines and Evolution of Innovative Surgical Strategies for the Treatment of Anorectal Malformations

Anorectal malformations (ARMs) are rare congenital anomalies with a European prevalence of one in 2,500 to 5,000 live births.[1] This patient population exhibits considerable heterogeneity in anal birth defects, frequently accompanied by associated anomalies or underlying genetic syndromes. Such diversity results in variations in diagnostic approaches, surgical timing, procedures, and follow-up protocols both within and across European countries.

A recent study evaluating 2,600 ARM patients from 34 European countries over 10 years revealed critical insights.[2] Associated anomalies were found more frequently than previously recognized, yet diagnostic screening was incomplete in many cases—for instance, vesicoureteral reflux screening was conducted in only 33% of patients. The study also reported a lower-than-expected incidence of tethered cords, attributed to differences in definitions, and diagnostic strategies. Additionally, comparisons of long-term functional outcomes remain challenging due to inconsistent definitions and patient categorization across centers.

The lack of evidence-based international guidelines contributes to this variability. Uniform guidelines could standardize care, but their implementation must consider Europe's socioeconomic disparities, which affect access to expertise and advanced medical technology. Addressing health care inequalities is crucial to ensure guideline adoption and equitable care.

To mitigate these challenges, the European Commission established European Reference Networks (ERNs) in 2017, aimed at improving care for rare diseases through resource pooling and collaborative research. Twenty-four ERNs for rare diseases have been formed.[3] The care for patients with ARM is included within the ERN for rare uro–recto–genital diseases and complex conditions (ERN eUROGEN).[4] Accredited national centers of expertise join ERN eUROGEN based on rigorous criteria, such as patient volume, monitored on a regular basis.

One key initiative of ERN eUROGEN is the development of evidence-based clinical guidelines and decision-support tools. A dedicated Guidelines Expert Panel, comprising health care providers, patient advocates, and supporting partners, aims to reduce variability in ARM care across Europe by creating uniform, high-quality guidelines, using the methodology provided by the EC.[5] These efforts reflect a commitment to equitable and effective care for all ARM patients.

The purpose of this review block is to provide the new ERN eUROGEN consensus guidelines for diagnosis, treatment, lifelong follow-up and transition of care, as well as organization of care and communication between providers for patients with ARM summarized by Aubert et al. Furthermore, this review block includes three manuscripts highlighting key developments in surgical techniques.

Alessio Pini Prato and Martin Lacher provide a comprehensive review of pediatric robotic colorectal surgery. The authors highlight the precision and safety of robotic platforms for complex procedures in patients with ARM or Hirschsprung's disease, despite challenges with cost and specialized training.

Dr. Xu and Dr. Levitt reflect on 50 years of surgical advancements, emphasizing how PSARP revolutionized ARM repair with improved outcomes and reduced complications.

Finally, the same group reports the posterior rectal advancement anoplasty as an innovative approach for patients with rectoperineal fistula. The authors provide data on 18 patients and conclude that PRAA effectively reduces complications like urethral injury while enabling rapid recovery for male patients.

The development of guidelines and the evolution of new surgical techniques mark an essential first step toward improving care, but their success relies heavily on effective implementation and acceptance by health care providers. Various barriers to guideline implementation have been defined in the literature and can be related to individual personal factors, incentives and resources, and the capacity for change in organizations.[6] To address these challenges, facilitators and obstacles must be thoroughly assessed for each project, with tailored implementation plans designed to optimize success. While social and resource-related barriers can be challenging to overcome, disseminating guideline-related knowledge is achievable through publications in widely read journals, as well as targeted outreach via webinars, courses, and meetings to engage and inform health care providers.[6]

The publication of guidelines and innovative surgical strategies for patients with ARM and Hirschsprung's disease marks a significant milestone in standardizing care across Europe. Equally important, however, is assessing and ensuring the effective implementation of these guidelines in clinical practice. While innovation in surgical techniques and strategies is essential, their true value also lies in effective implementation. Time will reveal whether these advancements are embraced by the pediatric surgical community and, ultimately, if they outperform the current standard of care.

Publikationsverlauf

Artikel online veröffentlicht:
24. März 2025

• References

• 1 Orphanet Report Series. Prevalence and incidence of rare diseases: bibliographic data. Rare Dis Collect 2022; Available at: http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
• 2 Hageman IC, Midrio P, van der Steeg HJJ. et al. The European Anorectal Malformation Network (ARM-Net) patient registry: 10-year review of clinical and surgical characteristics. Br J Surg 2024;111(02)
• 3 European Commission: Directorate-General for Health and Food Safety, European Reference Networks - Working for patients with rare, low-prevalence and complex diseases - Share, care, cure, 2023. Available at: https://health.ec.europa.eu/rare-diseases-and-european-reference-networks_en (Accessed on: 23 January 2025)
• 4 ERN eUROGEN: Rare uro-recto-genital diseases & complex conditions. Available at: https://eurogen-ern.eu/ (Accessed on: 23 January 2025)
• 5 Aragon Health Sciences Institute (IACS) & Juna de Andalucía - Fundación progreso y salud. Deliverables from the European Reference Network: Clinical practice guidelines and clinical decision support tools programme. 7 March 2023. Available at: https://health.ec.europa.eu/publications/european-reference-network-clinical-practice-guidelines-and-clinical-decision-support-tools_en (Accessed on: 23 January 2025)
• 6 Zhou P, Chen L, Wu Z. et al. The barriers and facilitators for the implementation of clinical practice guidelines in healthcare: an umbrella review of qualitative and quantitative literature. J Clin Epidemiol 2023; 162: 169-181