Patient perceptions of the Finnish guidelines enabling coeliac disease diagnosis without biopsies in adults

Diagnosis of coeliac disease based on serology only has been allowed since 2018 in Finland for adults meeting specific criteria. We studied the patient experiences and perceptions of this novel diagnostic option. Altogether 194 adult patients were questioned on socio‐demographic and health-related characteristics, quality of life and various coeliac disease-related issues. The results were compared between patients diagnosed with intestinal biopsy or based on serology only. Altogether 69 (36%) of the patients were diagnosed without duodenal biopsies. They were younger (median 43 vs. 51 years, p = 0.046), diagnosed more recently (2021 vs. 2020, p p = 0.001), had fewer esophageal symptoms at diagnosis (17% vs. 30%, p = 0.046) and considered the diagnostic process easier (49% vs. 30%, p = 0.032) than those diagnosed by duodenal biopsy (n = 125). The no-biopsy group received less often dietician follow-up (4% vs. 17%, p = 0.012), reported more persistent symptoms (36% vs. 21%, p = 0.026) and experienced more stress due to the diet (68% vs. 47%, p = 0.039). Symptom persistence or stress were not associated with year of diagnosis or dietician follow-up. The groups were comparable in socio-economic characteristics, general health, quality of life, diagnostic delay, dietician guidance at diagnosis, and dietary adherence. The non-invasive approach resulted in de-centralized diagnosis and easier patient-experienced diagnostic process of coeliac disease, but was associated with increased risk for persistent symptoms and stress due to gluten-free diet. These results highlight the significance of appropriate patient guidance and support regardless of the diagnostic strategy. Established knowledge on this subjectFinland was the first country to allow the diagnosis of coeliac disease without duodenal biopsies and based on serology only to selected adult patients.Feasibility of no-biopsy diagnosis of coeliac disease for adults has been debated globally.Patient perceptions and acceptance of the diagnostic process are important as coeliac disease is treated with life-long, strict gluten-free diet. Finland was the first country to allow the diagnosis of coeliac disease without duodenal biopsies and based on serology only to selected adult patients. Feasibility of no-biopsy diagnosis of coeliac disease for adults has been debated globally. Patient perceptions and acceptance of the diagnostic process are important as coeliac disease is treated with life-long, strict gluten-free diet. New findings of this studyOne-third of adult coeliac disease patients reported being diagnosed without duodenal biopsies, based on serology only in the period 2019–2022.No-biopsy diagnoses were made more often outside hospital settings and the patients found the diagnostic process less challenging than those diagnosed based on biopsy findings.No-biopsy diagnosis was associated with more common persistent symptoms and stress due to gluten-free diet, and less common dietician follow-up.The findings highlight the significance of adequate patient support and guidance regardless of diagnostic process. One-third of adult coeliac disease patients reported being diagnosed without duodenal biopsies, based on serology only in the period 2019–2022. No-biopsy diagnoses were made more often outside hospital settings and the patients found the diagnostic process less challenging than those diagnosed based on biopsy findings. No-biopsy diagnosis was associated with more common persistent symptoms and stress due to gluten-free diet, and less common dietician follow-up. The findings highlight the significance of adequate patient support and guidance regardless of diagnostic process.自2018年起，芬兰已允许符合特定标准的成人患者仅通过血清学（serology）即可诊断乳糜泻（coeliac disease）。本研究针对该新型诊断方式的患者体验与认知展开调研。研究共纳入194名成人患者，对其社会人口学特征、健康相关特征、生活质量及各类乳糜泻相关问题进行了问卷调查，并将接受十二指肠活检（duodenal biopsies）确诊与仅通过血清学确诊的患者数据进行对比分析。 最终共有69名（36%）患者未接受十二指肠活检即完成确诊。与通过十二指肠活检确诊的患者（n=125）相比，该无活检组患者年龄更小（中位年龄43岁 vs 51岁，p=0.046）、确诊时间更近（2021年 vs 2020年，p=0.001）、确诊时出现食管症状的比例更低（17% vs 30%，p=0.046），且认为诊断流程更简便（49% vs 30%，p=0.032）。此外，无活检组患者接受营养师（dietician）随访的比例更低（4% vs 17%，p=0.012），报告持续症状的比例更高（36% vs 21%，p=0.026），因无麸质饮食（gluten-free diet）产生的压力更大（68% vs 47%，p=0.039）。症状持续情况或饮食相关压力与确诊年份、营养师随访均无关联。两组患者在社会经济特征、总体健康状况、生活质量、诊断延迟时间、确诊时的营养师指导情况及饮食依从性方面均具有可比性。 研究结果显示，无创诊断方式可实现乳糜泻的分散化诊断，并降低患者感知的诊断难度，但会增加持续症状及无麸质饮食相关压力的发生风险。上述结果强调，无论采用何种诊断策略，为患者提供恰当的指导与支持都具有重要意义。 ### 该领域已有研究基础 芬兰是全球首个允许符合筛选标准的成人患者仅通过血清学而非十二指肠活检诊断乳糜泻的国家；成人乳糜泻无活检诊断的可行性在全球范围内始终存在争议；由于乳糜泻需终身严格遵循无麸质饮食，患者对诊断流程的认知与接受度对疾病管理至关重要。 ### 本研究新发现 1. 2019-2022年间，约三分之一的成人乳糜泻患者仅通过血清学检查确诊，未接受十二指肠活检； 2. 无活检诊断更多在医院外场景开展，患者认为该诊断流程较活检确诊者更易操作； 3. 无活检诊断与更高的持续症状发生率、无麸质饮食相关压力及更低的营养师随访率相关； 4. 本研究结果凸显了无论采用何种诊断流程，为患者提供充足的支持与指导均具有重要意义。