Diagnostic delay in adult coeliac disease: An Italian multicentre study

Lenti, Marco Vincenzo; Aronico, Nicola; D’Agate, Carmela Cinzia; Neri, Matteo; Volta, Umberto; Mumolo, M.G.; Astegiano, Marco; Calabrò, Antonino; Zingone, Fabiana; Latella, Giovanni; Sario, A. Di; Carroccio, Antonio; Ciacci, Carolina; Luzza, Francesco; Bagnato, C; Fantini, Massimo; Elli, Luca; Cammarota, Giovanni; Gasbarrini, Antonio; Portincasa, Piero; Latorre, Mario Andrea; Petrucci, Clarissa; Quatraccioni, Claudia; Iannelli, Chiara; Vecchione, Nicoletta; Rossi, Carlo Maria; Broglio, Giacomo; Ianiro, Gianluca; Marsilio, Ilaria; Bibbò, Stefano; Marinoni, Beatrice; Tomaselli, Donatella; Abenavoli, Ludovico; Pilia, Riccardo; Santacroce, Giovanni; Lynch, Erica Nicola; Carrieri, Antonella; Mansueto, Pasquale; Gabba, Margherita; Alunno, Giacomo; Rossi, Chiara; Onnis, Francesca; Efthymakis, Konstantinos; Cesaro, Nicola; Vernero, Marta; Svizzero, Federica Baiano; Semeraro, Francesco; Silano, Marco; Vanoli, Alessandro; Klersy, Catherine; Corazza, Gino Roberto; Sabatino, Antonio Di

doi:10.1016/j.dld.2022.11.021

Cited by 10 publications

(14 citation statements)

References 31 publications

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“…Given the shortness of diagnostic delay found in this study, we consider the results regarding extreme diagnostic delays more important. Moreover, there are some factors that affect diagnostic delay of CD both in adults and in children, such as a previous misdiagnosis . The rate of false diagnoses before CD diagnosis is lower in the pediatric population as compared with the adult population.…”

Section: Discussionmentioning

confidence: 99%

“…This wide heterogeneity may lead to a delayed diagnosis and may also increase the risk of misdiagnosis . Similar to other immune-mediated gastrointestinal disorders characterized by a wide or unspecific clinical spectrum, such as inflammatory bowel disease and autoimmune atrophic gastritis, CD seems to be burdened by a substantial diagnostic delay and a greater risk of mortality in adults . Hence, a timely diagnosis of CD is warranted .…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Diagnostic Delay of Celiac Disease in Childhood

Bianchi,

Lenti,

Petrucci

et al. 2024

JAMA Netw Open

Self Cite

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“…19 In a recent retrospective study from Italy, Sabatino et al enrolled 2362 patients from 19 outpatient CeD clinics across Italy and reported a median diagnostic delay of 8 months from symptom onset. 20 While most of the existing literature focusses upon the magnitude of diagnostic delay, factors responsible for diagnostic delay or the impact of diagnostic delay on the quality of life, there is limited data to highlight the impact of delayed diagnosis on the clinical outcomes of CeD. 21 In a retrospective analysis of 570 CeD patients by Dhar et al, patients diagnosed more than 3 years from the symptom onset had higher rates of anemia, lower vitamin D levels, and menstrual irregularities compared with patients diagnosed within 3 years from symptom onset.…”

Section: Discussionmentioning

confidence: 99%

“…In a recent retrospective study from Italy, Sabatino et al . enrolled 2362 patients from 19 outpatient CeD clinics across Italy and reported a median diagnostic delay of 8 months from symptom onset 20 …”

Section: Discussionmentioning

confidence: 99%

“…1). Also, the median age of symptom onset of patients with CeD having short stature was 14 years, [10][11][12][13][14][15][16][17][18][19][20] and it was significantly lower than the median age of symptom onset of patients with CeD having no short stature, in whom it was 24 years [17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33] (Fig. 2).…”

Section: Impact Of Delay In the Diagnosis Of Celiac Diseasementioning

confidence: 99%

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Impact of delay in the diagnosis on the severity of celiac disease

Mehta,

Agarwal,

Pachisia

et al. 2023

J of Gastro and Hepatol

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Background and AimCeliac disease (CeD) has now become a global disease with a worldwide prevalence of 0.67%. Despite being a common disease, CeD is often not diagnosed and there is a significant delay in its diagnosis. We reviewed the impact of the delay in the diagnosis on the severity of manifestations of CeD.MethodsWe reviewed clinical records of 726 consecutive patients with CeD from the Celiac Clinic database and the National Celiac Disease Consortium database. We extracted specific data including the demographics, symptoms at presentation, time of onset of symptoms, time to diagnosis from the onset of the symptoms, and relevant clinical data including fold‐rise in anti‐tissue transglutaminase antibody (IgA anti‐tTG Ab) and severity of villous and crypt abnormalities as assessed using modified Marsh classification.ResultsThe median duration between the onset of symptoms and the diagnosis of CeD was 27 months (interquartile range 12–60 months). A longer delay in the diagnosis of CeD from the onset of symptoms was associated with lower height for age, lower hemoglobin, higher fold rise in IgA Anti tTG titers, and higher severity of villous and crypt abnormalities. About 18% of patients presented with predominantly non‐gastrointestinal complaints and had a longer delay in the diagnosis of CeD.ConclusionsThere is a significant delay in the diagnosis of CeD since the onset of its symptoms. The severity of celiac disease increases with increasing delay in its diagnosis. There is a need to keep a low threshold for the diagnosis of CeD in appropriate clinical settings.

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Patient preferences for the diagnosis of coeliac disease: A discrete choice experiment

Shiha,

Wickramasekera,

Raju

et al. 2024

UEG Journal

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BackgroundThere is potential for a paradigm shift from a biopsy‐to a serology‐based diagnosis of coeliac disease in selected adult patients. However, it remains unknown if this approach would be acceptable to patients. We aimed to explore patients' preferences regarding the no‐biopsy approach for coeliac disease diagnosis.MethodsWe developed a discrete choice experiment survey containing 12 different scenarios with two possible alternatives (endoscopy & biopsy or serology) to estimate patient preferences. The scenarios were based on 5 attributes: risk of false positive results, risk of missed diagnosis, waiting time to start treatment, risk of complications, discomfort, or pain. Patient preferences and the relative importance of the attributes were estimated using a mixed logit model.ResultsIn total, 385 people (70.6% female, 98.2% white) across the four nations of the United Kingdom completed the survey. Respondents preferred a serology‐based diagnosis over endoscopy and duodenal biopsies (59% vs. 41%, β coefficient 1.54, p < 0.001). Diagnostic test accuracy (p < 0.001), shorter waiting time to start treatment (p < 0.001), and discomfort levels during the procedure (p < 0.001) were the most important attributes to respondents. The risk of complications, including perforation and bleeding, did not significantly influence respondents' choices. Respondents with previous endoscopy experience were more willing to undergo endoscopy compared with those who never had one.ConclusionThe no‐biopsy approach to diagnosing coeliac disease is acceptable and preferred by patients over endoscopy and biopsy. Our findings highlight the importance of patient‐centred care and shared decision‐making in guiding diagnostic strategies for optimal patient outcomes.

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Diagnostic delay in adult coeliac disease: An Italian multicentre study

Cited by 10 publications

References 31 publications

Diagnostic Delay of Celiac Disease in Childhood

Diagnostic Delay of Celiac Disease in Childhood

Impact of delay in the diagnosis on the severity of celiac disease

Patient preferences for the diagnosis of coeliac disease: A discrete choice experiment

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