Introduction

Potential celiac disease (PCD) is characterized by a genetic predisposition and positive celiac-specific serology in the absence of villous atrophy, while the patient is on a gluten-containing diet (GCD).
Although progression to overt celiac disease (CD) may occur, the natural history of PCD remains unpredictable, partly due to the early initiation of a gluten-free diet (GFD) in some patients following diagnosis.

Aims & Methods

We included both adult and pediatric patients referred to two tertiary referral centers in Milan between 2006 and 2024.
At the time of presentation, PCD was defined by the presence of positive anti-transglutaminase (anti-tTG) antibodies, genetic predisposition to CD, and absence of villous atrophy on duodenal biopsy.
This retrospective study collected clinical, serological, endoscopic, and histological data at baseline and throughout follow-up.
The aim was to characterize individuals with PCD by describing their clinical and histological features at presentation and identifying potential risk factors associated with progression to overt CD

Results

A total of 120 patients (50 children and 70 adults) were included in the study. At baseline, 80% of patients were symptomatic, with the most common complaints being bloating (36.8%), abdominal discomfort (35.1%), and diarrhea (26.1%). The median anti-tTG level was 4.93 times the upper limit of normal (95% CI: 3.63–6.23). Despite this, 25% of upper endoscopies showed macroscopic signs suggestive of atrophy, while histology revealed Marsh 0 in 72.3% and Marsh 1 in 27.7% of cases.
During follow-up, 20 patients developed villous atrophy after a mean interval of 1.3 ± 2.1 years. Cox regression analysis identified higher baseline anti-tTG levels as significantly associated with progression to overt CD (HR 1.78, p = 0.029; 95% CI: 1.06–3.01), independent of age and sex.
The remaining 100 patients did not progress to CD during follow-up, which included repeat serological testing and upper endoscopy. Among them, 18 chose to initiate a gluten-free diet (GFD), with 11 reporting symptomatic improvement. The others continued a gluten-containing diet without symptom worsening.

Conclusion

PCD has been confirmed as a condition distinct from overt CD. Despite prolonged follow-up, only 16% of patients progressed to overt CD, suggesting that the majority of individuals with PCD can safely maintain a gluten-containing diet without developing symptoms or histological damage. Elevated anti-tTG antibody levels at baseline emerged as a significant risk factor for progression to villous atrophy.
In conclusion, most PCD patients can be managed conservatively and monitored over time without the need for immediate dietary restrictions.

Introduction

Coeliac disease (CD) affects 1% of the population in the United Kingdom (U.K.) but is often underdiagnosed¹. Complications of CD include detrimental effects on bone health and increased fracture risk². Currently, evidence supporting routine serological testing for CD in adults with fractures is limited.

Aims & Methods

The aims of this study were to:
1. Determine whether the prevalence of CD among adult fracture patients exceeds the expected 1% in the general population.
2. Characterise demographic and fracture‑site patterns to identify high‑risk subgroups.
This cross-sectional observational study was conducted at a single U.K. fracture clinic with 1000 adults (≥16 years) with a fracture recruited between April 2023 and April 2025. Patients under 16 or unable to provide consent were excluded. Patients with known CD were included. Demographic data (age, gender, ethnicity) and fracture sites were recorded. Anti-tissue transglutaminase antibody (tTG-IgA) tests were performed unless known to have CD. Equivocal tTG-IgA results were reviewed by a gastroenterologist, and repeat testing was conducted if needed. Seropositive participants were invited for duodenal biopsy. Laboratory processing issues were treated as negative results. Statistical analyses included descriptive demographic analyses and prevalence calculations.

Results

Baseline characteristics are summarised in Table 1. Of 1000 participants, 978 participants underwent tTG-IgA testing, of which 5 participants tested positive, yielding a seroprevalence of 5/1000 (0.5%). Duodenal biopsy confirmed CD in 2 participants 2/1000 (0.2%), while 1 seropositive participant did not attend biopsy, 1 is awaiting biopsy, and 1 had a negative biopsy. 28 participants were classified as having negative results. This group included untested samples (n=15), equivocal results (n=6), and known CD (n=7). The overall prevalence of CD in our study population was 9/1000 (0.9%): 7 known and 2 newly confirmed CD. The CD population were predominantly white, and upper limb fractures were most common, aligning with prior studies^3,4.

Table 1

Conclusion

This represents one of the largest evaluations of CD prevalence in fracture patients. The observed prevalence of CD 9/1000 (0.9%) closely aligns to the expected UK prevalence for CD. However, given only 5/1000 (0.5%) tested positive serologically and 2/1000 (0.2%) confirmed through biopsy, these findings suggest that routine screening in fracture clinics is unlikely to be efficient. Instead, we should explore targeted screening in fracture clinics, reserving testing for patients with iron‑deficiency anaemia, chronic GI symptoms, or a first‑degree family history of coeliac disease.

References

1. West J, Logan RF, Hill PG, Lloyd A, Lewis S, Hubbard R, Reader R, Holmes GK, Khaw KT. Seroprevalence, correlates, and characteristics of undetected coeliac disease in England. Gut. 2003 Jul;52(7):960-5. doi: 10.1136/gut.52.7.960. PMID: 12801951; PMCID: PMC1773707.
2. Heikkilä K, Pearce J, Mäki M, Kaukinen K. Celiac disease and bone fractures: a systematic review and meta-analysis. J Clin Endocrinol Metab. 2015 Jan;100(1):25-34. doi: 10.1210/jc.2014-1858. PMID: 25279497.
3. Thomason, K., West, J., Logan, R. F., Coupland, C., & Holmes, G. K. (2003). Fracture experience of patients with coeliac disease: a population based survey. Gut, 52(4), 518–522. https://doi.org/10.1136/gut.52.4.518
4. Mardini, H. E., Westgate, P., & Grigorian, A. Y. (2015). Racial Differences in the Prevalence of Celiac Disease in the US Population: National Health and Nutrition Examination Survey (NHANES) 2009-2012. Digestive diseases and sciences, 60(6), 1738–1742. https://doi.org/10.1007/s10620-014-3514-7

Introduction

Detection of autoantibodies directed to tissue transglutaminase (tTG) and deamidated gliadin peptide (DGP) is important in the assessment of individuals under clinical suspicion of celiac disease (CD).

Aims & Methods

In this study, we compared the analytical performance for the detection of autoantibodies to tTG (IgA isotype), of the MosaiQ AiPlex^® CD microarray (AiPlex CD. AliveDx, Switzerland), a CE-marked, novel, single-use, fully automated, multiplexed microarray immunoassay and routine methods. De-identified serum samples, characterized as reactive or non-reactive for tTG IgA as per the routine practice method of the evaluation site (EliA™ Celikey^® IgA, Phadia AB, Sweden), were tested with the evaluated device. Although AiPlex CD features the semi-quantitative measurement of both tTG IgA and IgG and anti-deamidated gliadin peptide (DGP) IgA and IgG antibodies, and qualitative measurement of total IgA in serum; this comparison was limited to tTG IgA as no samples characterized for other CD autoantibodies were available. Positive percent agreement (PPA) and negative percent agreement (NPA) were calculated. Double-sided 95% Confidence Intervals (CI) were calculated using Clopper-Pearson Exact Method.

Results

77 samples characterized as reactive for tTG IgA by the routine method and 90 samples characterized as non-reactive for this marker were included in the analysis. The evaluated device identified 73 out of 77 samples characterized as reactive by the routine method, for a PPA of 95% (95% CI: 87.2, 98.5). Out of the four discordant samples, one also yielded a non-reactive result for tTG IgG and reactive results for both DGP IgA and IgG in the evaluated device and negative anti-endomysial antibodies (EMA) by immunofluorescence; two samples were reactive to DGP IgA or DGP IgG by the evaluated device and one sample was non-reactive to all four markers and was negative to EMA. Regarding the samples characterized as non-reactive by the routine method, the evaluated device identified 86 out of 90, for an NPA of 96% (95% CI: 89.0, 98.7). For the four samples with discordant results, the evaluated device also yielded reactive results for at least one additional CD antibody (tTG IgG, DGP IgA, DGP IgG).

Conclusion

In this study, the evaluated microarray immunoassay showed high concordance with the compared routine method for the serological assessment of tTG IgA, a key marker in the evaluation of CD.

Disclosure

This study was funded by AliveDx Suisse SA, Eysins, Switzerland. Gerber Gomez and Christian Fischer are AliveDx employees.

Introduction

Disease-specific knowledge plays a central role in chronic disease management. In patients with inflammatory bowel disease (IBD), limited knowledge is linked to poorer perceived health and increased discomfort (1).

Aims & Methods

This study assessed disease-specific knowledge among adult patients with IBD at a tertiary center and defined existing knowledge gaps. Factors associated with higher or lower levels of knowledge were explored.
The retrospective cohort study included 392 IBD patients who completed a comprehensive questionnaire between March 2020 and April 2021 (2). Questionnaire responses were analyzed alongside clinical records to quantify disease-specific knowledge. A scoring system was developed to quantify disease-specific knowledge (0–8 points), based on correct diagnosis, Montreal classification, complications, and current therapies. Scores were categorized as low (0–5) or high (6–8) knowledge levels. Associations between knowledge levels and disease-related, sociodemographic, and psychosocial factors were analyzed using logistic regression analysis.

Results

While most patients correctly identified their diagnosis (kappa: 0.863, CI: 0.816–0.905, p < 0.001) and advanced treatment (e.g. infliximab: kappa: 0.959, CI: 0.925–0.983, p < 0.001), knowledge gaps were observed regarding disease location (e.g. isolated proctitis in ulcerative colitis: kappa: 0.101, CI: –0.051–0.341, p = 0.128), complications, comorbidities, and certain other medications. In the univariate analysis a higher knowledge level was found in patients with Crohn’s disease, younger age at diagnosis, in patients with no disease activity, and treatment with biologics, in those receiving disability pension and in patients with a high Perceived Stress Questionnaire (PSQ) score for worries (table). A younger age at diagnosis (p = 0.028) and having Crohn’s disease (p < 0.001) were independently associated with higher knowledge levels whereas active disease was associated with lower disease-specific knowledge.
Table:
Univariate logistic regression analysis for items significantly associated with higher knowledge levels

Conclusion

Significant disease-specific knowledge gaps were identified, particularly concerning disease location, complications, and comorbidities. Targeted patient education should focus on addressing these specific deficits in susceptible groups.

References

1. Tormey LK, Reich J, Chen YS, Singh A, Lipkin-Moore Z, Yu A, et al. Limited Health Literacy Is Associated With Worse Patient-Reported Outcomes in Inflammatory Bowel Disease. Inflamm Bowel Dis. 2019;25:204–12.
2. Koletzko L, Klucker E, Le Thi TG, Breiteneicher S, Rubio-Acero R, Neuhaus L, et al. Following Pediatric and Adult IBD Patients through the COVID-19 Pandemic: Changes in Psychosocial Burden and Perception of Infection Risk and Harm over Time. J Clin Med. 2021;10:4124.

Introduction

Celiac disease is a chronic disease that requires lifelong treatment with a strict diet, which has an impact on the health-related quality of life of the patients.

Aims & Methods

To analyse the quality of life in patients with celiac disease that are followed in our centre.
A single-center, prospective, observational study based in the Spanish version of Celiac Disease Quality of Life Survey (CD-QOL), a validated questionnaire.

Results

53 patients agreed to complete the questionnaire. Mean age of the patients at the moment of the consultation was 39.15 years, while mean age at diagnosis of the patients who agreed to participate was 33.20 years. Of them, 35.8% had university degree, 28.3% completed professional training and 35.8% only had compulsory basic education.
Of these patients, 69.2% didn’t have any relative diagnosed with celiac disease, and only the 13.2% used to live with another celiac patient. Just 9.4% of the patients who filled in the questionnaire were members of a celiac patient society.
75.5% of the patients claimed that celiac disease affects their social life, 84.9% declared that they comply properly with the gluten-free diet, although for the 32.7% the adherence to the dietary treatment is difficult.
Of the patients who participated, 33.9% declared that they feel quite / a lot limited by the disease, 27.4% feel quite / much stigmatized because of the illness, 22.7% have quite / a lot of problems in their social life, 32.2% have quite / a lot difficulties travelling, and 22.7% of patients declared that they have quite / a lot the impression to not have a normal life.

Conclusion

1. Celiac disease may be quite burdensome even in asymptomatic patients who are not supposed to have small bowel damage in their follow-up. According to our series, up to 75.5% of patients have problems in their social life.
2. Health education during the follow-up providing greater knowledge of the disease, support from specialized nurses, and the recommendation to join patients support groups (patient societies) could be tools that may empower celiac patients to help manage their disease and enjoy a normal life.

References

1. Al-Toma A, Volta U, Auricchio R, et al. European Society for the Study of Coeliac Disease (ESsCD) guideline for coeliac disease and other gluten-related disorders. United European Gastroenterol J 2019;7(5):583-613.
2. Casellas F, Rodrigo L, Molina-Infante J, et al. Transcultural adaptation and validation of the Celiac Disease Quality of Life (CD-QOL) Survey, a specific questionnaire to measure quality of life in patients with celiac disease. Rev Esp Enferm Dig 2013; 105(10):585-93.