Editorial: Development and Validation of a Multimodal Machine Learning Model for Diagnosing and Assessing Risk of Crohn's Disease in Patients With Perianal Fistula

IF 6.7 1区 医学 Q1 GASTROENTEROLOGY & HEPATOLOGY Alimentary Pharmacology & Therapeutics Pub Date : 2025-01-24 DOI:10.1111/apt.18490
Alyssa M. Parian, David A. Schwartz
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Abstract

Perianal fistulising Crohn's disease (PFCD) is found in up to 25% of patients with CD and is associated with decreased quality of life and increased healthcare expenditures. Approximately 11.5% of patients with CD present with perianal fistula (PAF) as their first symptom [1]. Furthermore, 4%–5% of patients have isolated PAF as their only manifestation [2]. Prolonged time to diagnosis of CD in patients with PAF may result in development of more complex fistula and progression of luminal disease. In one study, the median time to diagnosis of CD after PAF was 15 months with a range up to 4 years [3]. Earlier diagnosis and treatment is associated with higher rates of fistula closure and prevention of disease progression [3, 4]. However, differentiating PFCD from cryptoglandular fistula (CGF) can be challenging with two diverging treatment algorithms.

Xiang et al. [5] developed a web-based tool using the top five features in a machine learning model to predict the risk of CD in patients with PAF. Rectal wall ulceration, rectal wall thickening, submucosal fistula, T2 hyperintensity and age < 30 were independently associated with increased risk of CD and together achieved an AUROC of 0.94 (95% CI: 0.89–0.99). This is an excellent step towards risk-stratifying patients with PAF into those who require colonoscopic assessment for CD and those who likely have CGF unrelated to CD.

A major limitation of this study is the lack of endoscopic assessment in patients classified as having CGF to rule out subclinical CD. PAF can be challenging to treat, with a need for clinical decision tools and prediction models to determine which patients are more likely to have CD versus CGF. Xiang et al.'s model strongly focuses on rectal inflammation with two of the five features, including MRI findings seen in proctitis. Current MRI-based PFCD scoring systems all incorporate the items assessed in the model of Xiang et al. Important pieces of the history (chronic diarrhoea, abdominal pain, weight loss, rectal bleeding and family history of IBD), physical examination (irregular or hypertrophied anal skin tag) and laboratory testing (faecal calprotectin/lactoferrin), which are known predictors of CD could further improve the prediction model. Faecal calprotectin accurately distinguishes PFCD from CGF [6]. Furthermore, there is a strong correlation between fistula scraping calprotectin values and disease outcomes defined by the TOpCLASS classification system, suggesting a relationship with fistula prognosis [6]. Current ECCO guidelines recommend ileocolonoscopy in patients with an unexplained fistula and suspicion of CD [7]. In patients with negative ileocolonoscopy, capsule endoscopy can provide additional diagnostic yield [7].

Although an excellent start, further validation testing is needed in patients who have completed assessment to formally rule out CD before assigning a CGF diagnosis. A successful prediction model should incorporate patient history, examination and laboratory results in addition to MRI findings. Our goal must be to diagnose CD early in the fistula course to decrease complications and change the disease trajectory.

Alyssa M. Parian: writing – original draft, writing – review and editing, conceptualization, visualization. David A. Schwartz: writing – review and editing, supervision, conceptualization, visualization.

This article is linked to Xiang et al papers. To view these articles, visit https://doi.org/10.1111/apt.18455 and https://doi.org/10.1111/apt.18516.

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编辑:多模态机器学习模型的开发和验证,用于诊断和评估肛门周围瘘患者克罗恩病的风险
克罗恩病(PFCD)在高达25%的CD患者中发现,并与生活质量下降和医疗保健支出增加有关。大约11.5%的乳糜泻患者以肛周瘘(PAF)为首发症状。此外,4%-5%的患者以孤立性PAF为其唯一表现。PAF患者诊断CD的时间延长可能导致更复杂瘘管的发展和管腔疾病的进展。在一项研究中,PAF后诊断为CD的中位时间为15个月,最长可达4年。早期诊断和治疗与更高的瘘管闭合率和疾病进展的预防相关[3,4]。然而,由于两种不同的治疗方法,区分PFCD和隐腺瘘(CGF)可能具有挑战性。Xiang等人开发了一种基于网络的工具,使用机器学习模型中的前五个特征来预测PAF患者的CD风险。直肠壁溃疡、直肠壁增厚、粘膜下瘘、T2高信号和年龄与CD风险增加独立相关,AUROC为0.94 (95% CI: 0.89-0.99)。这是将PAF患者分为需要结肠镜评估的CD患者和可能患有与CD无关的CGF的患者的风险分层的一个很好的步骤。本研究的一个主要局限性是缺乏对CGF分类的患者进行内镜评估以排除亚临床CD。PAF治疗具有挑战性,需要临床决策工具和预测模型来确定哪些患者更可能患有CD而不是CGF。Xiang等人的模型强烈关注直肠炎症的五个特征中的两个,包括直肠炎的MRI表现。目前基于mri的PFCD评分系统都纳入了Xiang等人模型中评估的项目。重要的病史(慢性腹泻、腹痛、体重减轻、直肠出血和IBD家族史)、体格检查(不规则或肥大的肛门皮赘)和实验室检测(粪便钙保护蛋白/乳铁蛋白),这些已知的CD预测因子可以进一步完善预测模型。粪钙保护蛋白能准确区分PFCD和CGF[6]。此外,瘘刮刮钙保护蛋白值与TOpCLASS分类系统定义的疾病结局之间存在很强的相关性,提示与瘘预后[6]有关。目前ECCO指南推荐对不明原因瘘管和怀疑CD的患者进行回肠结肠镜检查。在回肠结肠镜检查阴性的患者中,胶囊内窥镜检查可以提供额外的诊断产率[7]。虽然这是一个很好的开始,但在确定CGF诊断之前,需要对完成评估以正式排除CD的患者进行进一步的验证测试。一个成功的预测模型应结合患者病史、检查和实验室结果以及MRI结果。我们的目标必须是在瘘管病程的早期诊断乳糜泻,以减少并发症和改变疾病轨迹。
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来源期刊
CiteScore
15.60
自引率
7.90%
发文量
527
审稿时长
3-6 weeks
期刊介绍: Alimentary Pharmacology & Therapeutics is a global pharmacology journal focused on the impact of drugs on the human gastrointestinal and hepato-biliary systems. It covers a diverse range of topics, often with immediate clinical relevance to its readership.
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