Serum anti-tissue transglutaminase IgA and prediction of duodenal villous atrophy in adults with suspected coeliac disease without IgA deficiency (Bi.A.CeD): a multicentre, prospective cohort study

Ciacci, Carolina; Bai, Julio Cesar; Holmes, Geoffrey; Al-Toma, Abdulbaqi; Biagi, Federico; Carroccio, Antonio; Ciccocioppo, Rachele; Di Sabatino, Antonio; Gingold-Belfer, Rachel; Jinga, Mariana; Makharia, Govind; Niveloni, Sonia; Norman, Gary L; Rostami, Kamran; Sanders, David S; Smecuol, Edgardo; Villanacci, Vincenzo; Vivas, Santiago; Zingone, Fabiana; Balaban, Daniel Vasile; Borgheresi, Patrizia; Cavallo, Pierpaolo; D'Odorico, Anna; Iovino, Paola; Lenti, Marco Vincenzo; Mansueto, Pasquale; Marsilio, Ilaria; Popp, Alina; Shay, Vardit; van Wenum, Martien; Zanoni, Giovanni

doi:10.1016/s2468-1253(23)00205-4

Cited by 18 publications

(6 citation statements)

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“…In conclusion, our study highlights the close association between CD and both monoglandular and polyglandular autoimmunity. In the era of non-invasive CD diagnosis, established for pediatric patients and proposed for adulthood [41][42][43], prospective studies to ascertain whether an early diagnosis of CD and a prompt GFD may positively impact the evolution and manifestation of glandular autoimmunity are mandatory.…”

Section: Discussionmentioning

confidence: 99%

Autoimmune Polyendocrine Syndromes in Adult Italian Celiac Disease Patients

Pallotta,

Granito,

Raiteri

et al. 2024

JCM

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Celiac disease (CD) is frequently associated with other autoimmune disorders. Different studies have explored the association between CD and single autoimmune endocrine disease (AED), especially autoimmune thyroiditis (AIT) and type-1 diabetes mellitus (T1DM). Data about CD as a component of autoimmune polyendocrine syndrome (APS) are scant. We analyzed a large dataset including prospectively collected data from 920 consecutive adult CD patients diagnosed in a third-level Italian institution in the 2013–2023 period, The prevalence of isolated autoimmune endocrine diseases and APS were collected. A total of 262 (28.5%) CD patients had at least one associated AED, with AIT (n = 223, 24.2%) and T1DM (n = 27, 2.9%) being the most frequent conditions. In most cases (n = 173, 66%), AEDs were diagnosed after CD. Thirteen patients (1.4%) had at least two of the requested three endocrinopathies, satisfying the diagnosis of type 2 APS. APS-2 is a rare but not exceptional occurrence among Italian CD patients, underscoring the intricate and multifaceted nature of autoimmune disorders. Periodic evaluations of thyroid function and glycaemia should be recommended after the diagnosis of CD together with testing for autoantibodies that may be helpful in assessing disease risk before disease onset. Likewise, implementation of a systematic screening for CD amongst T1DM and other autoimmune endocrine diseases are paramount.

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Section: Discussionmentioning

confidence: 99%

Autoimmune Polyendocrine Syndromes in Adult Italian Celiac Disease Patients

Pallotta,

Granito,

Raiteri

et al. 2024

JCM

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“…Diagnosis of coeliac disease most commonly relies on the presence of positive serological markers of coeliac disease [IgA antitissue transglutaminase (tTG), antideamindated gliadin peptide (DGP) or antiendomyseal antibody (EMA)] and concomitant mucosal inflammation with small intestinal villous atrophy [3]. The most recent literature has suggested that, particularly in children, a ‘no-biopsy’ approach relying on serological markers can be used to diagnose coeliac disease, negating the need for histological confirmation [12–14]. This approach has been integrated into European paediatric guidelines for coeliac disease over the last decade [13,15].…”

Section: Introductionmentioning

confidence: 99%

“…The most recent literature has suggested that, particularly in children, a ‘no-biopsy’ approach relying on serological markers can be used to diagnose coeliac disease, negating the need for histological confirmation [12–14]. This approach has been integrated into European paediatric guidelines for coeliac disease over the last decade [13,15].…”

Section: Introductionmentioning

confidence: 99%

Monitoring coeliac disease in 2024, time to change practice?

Raju,

Shiha,

Penny

2024

Current Opinion in Gastroenterology

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Purpose of review Persistent villous atrophy is associated with morbidity in coeliac disease and most commonly due to ongoing gluten ingestion. Current methods for assessing gluten exposure and persisting villous atrophy include dietary questionnaires and repeat duodenal biopsy, which have limited accuracy or are invasive. This review discusses adjunctive and/or novel tests that could be used to overcome these challenges. Recent findings Small bowel capsule endoscopy is well tolerated and helps to evaluate for persisting villous atrophy and importantly, complications associated with coeliac disease. Testing for urinary and/or stool gluten immunogenic peptides may help identify recent gluten exposure, but further studies are still warranted to evaluate the accuracy and applicability of this approach. Measuring spikes in circulating Interleukin-2 following gluten challenge has shown promise for coeliac disease diagnosis, and thus may serve as a useful confirmatory test in those with persisting symptoms but provides no information on mucosal inflammation. No specific gut microbial signature has been identified in coeliac disease; however, studies have shown a reduced microbial diversity in active disease, which with future refinement may prove clinically useful. Summary There is no evidence to support alternative methods for assessing persisting villous atrophy in coeliac disease over performing an up-to-date duodenal biopsy. Monitoring for adherence to a gluten-free diet remains clinically challenging and should be a priority for future research.

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“…In 2020, even less stringent criteria were proposed, also including asymptomatic patients . Recently, a biopsy-free approach has even been suggested in the diagnosis of adult CD …”

Section: Introductionmentioning

confidence: 99%

Diagnostic Delay of Celiac Disease in Childhood

Bianchi,

Lenti,

Petrucci

et al. 2024

JAMA Netw Open

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ImportanceThe extent and factors associated with risk of diagnostic delay in pediatric celiac disease (CD) are poorly understood.ObjectivesTo investigate the diagnostic delay of CD in childhood, and to assess factors associated with this delay.Design, Setting, and ParticipantsMulticenter, retrospective, cross-sectional study (2010-2019) of pediatric (aged 0-18 years) patients with CD from 13 pediatric tertiary referral centers in Italy. Data were analyzed from January to June 2023.Main Outcomes and MeasuresThe overall diagnostic delay (ie, the time lapse occurring from the first symptoms or clinical data indicative of CD and the definitive diagnosis), further split into preconsultation and postconsultation diagnostic delay, were described. Univariable and multivariable linear regression models for factors associated with diagnostic delay were fitted. Factors associated with extreme diagnostic delay (ie, 1.5 × 75th percentile) and misdiagnosis were assessed.ResultsA total of 3171 patients with CD were included. The mean (SD) age was 6.2 (3.9) years; 2010 patients (63.4%) were female; and 10 patients (0.3%) were Asian, 41 (1.3%) were Northern African, and 3115 (98.3%) were White. The median (IQR) overall diagnostic delay was 5 (2-11) months, and preconsultation and postconsultation diagnostic delay were 2 (0-6) months and 1 (0-3) month, respectively. The median (IQR) extreme overall diagnostic delay (586 cases [18.5%]) was 11 (5-131) months, and the preconsultation and postconsultation delays were 6 (2-120) and 3 (1-131) months, respectively. Patients who had a first diagnosis when aged less than 3 years (650 patients [20.5%]) showed a shorter diagnostic delay, both overall (median [IQR], 4 [1-7] months for patients aged less than 3 years vs 5 [2-12] months for others) and postconsultation (median [IQR], 1 [0-2] month for patients aged less than 3 years vs 2 [0-4] months for others). A shorter delay was registered in male patients, both overall (median [IQR], 4 [1-10] months for male patients vs 5 [2-12] months for female patients) and preconsultation (median [IQR], 1 [0-6] month for male patients vs 2 [0-6] months for female patients). Family history of CD was associated with lower preconsultation delay (odds ratio [OR], 0.59; 95% CI, 0.47-0.74) and lower overall extreme diagnostic delay (OR, 0.75; 95% CI, 0.56-0.99). Neurological symptoms (78 patients [21.5%]; OR, 1.35; 95% CI, 1.03-1.78), gastroesophageal reflux (9 patients [28.1%]; OR, 1.87; 95% CI, 1.02-3.42), and failure to thrive (215 patients [22.6%]; OR, 1.62; 95% CI, 1.31-2.00) showed a more frequent extreme diagnostic delay. A previous misdiagnosis (124 patients [4.0%]) was more frequently associated with gastroesophageal reflux disease, diarrhea, bloating, abdominal pain, constipation, fatigue, osteopenia, and villous atrophy (Marsh 3 classification).Conclusions and RelevanceIn this cross-sectional study of pediatric CD, the diagnostic delay was rather short. Some factors associated with risk for longer diagnostic delay and misdiagnosis emerged, and these should be addressed in future studies.

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Serum anti-tissue transglutaminase IgA and prediction of duodenal villous atrophy in adults with suspected coeliac disease without IgA deficiency (Bi.A.CeD): a multicentre, prospective cohort study

Cited by 18 publications

References 50 publications

Autoimmune Polyendocrine Syndromes in Adult Italian Celiac Disease Patients

Autoimmune Polyendocrine Syndromes in Adult Italian Celiac Disease Patients

Monitoring coeliac disease in 2024, time to change practice?

Diagnostic Delay of Celiac Disease in Childhood

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