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 5 publications

(8 citation statements)

References 31 publications

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“…In fact, the diagnostic delay of CD in children is here confirmed 18 to be shorter than in adults by comparison with data from a national multicenter study by our group 11 that includes the same period of years and a similar method of data description. In the adult study, overall, preconsultation, and postconsultation diagnostic delays were 8, 3, and 4 months, respectively, compared with 5, 2, and 1…”

Section: Discussionsupporting

confidence: 76%

“…6 Similar to other immunemediated gastrointestinal disorders characterized by a wide or unspecific clinical spectrum, such as inflammatory bowel disease 7 and autoimmune atrophic gastritis, 8 CD seems to be burdened by a substantial diagnostic delay and a greater risk of mortality in adults. [9][10][11] Hence, a timely diagnosis of CD is warranted. 3 However, there are still few data regarding the diagnostic delay in children, as well as possible factors associated with risk, as reported in Table 1, and mostly with a small sample size.…”

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: Discussionsupporting

confidence: 76%

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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Diagnostic delay in symptomatic uncomplicated diverticular disease: an Italian tertiary referral centre study

Santacroce,

Lenti,

Abruzzese

et al. 2023

Intern Emerg Med

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The magnitude of the diagnostic delay of symptomatic uncomplicated diverticular disease (SUDD) is unknown; we aimed to evaluate SUDD diagnostic delay and its risk factors. SUDD patients diagnosed at a tertiary referral centre were retrospectively enrolled (2010–2022). Demographic and clinical data were retrieved. Overall, patient-, and physician-dependant diagnostic delays were assessed. Univariate and multivariate analyses were fitted to identify risk factors for diagnostic delay. Overall, 70 SUDD patients (median age 65 years, IQR 52–74; F:M ratio = 1.6:1) were assessed. The median overall diagnostic delay was 7 months (IQR 2–24), patient-dependant delay was 3 months (IQR 0–15), and physician-dependant delay was 1 month (IQR 0–6). Further, 25% of patients were misdiagnosed with irritable bowel syndrome (IBS). At multivariate analysis, previous misdiagnosis was a significant risk factor for overall and physician-dependant diagnostic delay (OR 9.99, p = 0.01, and OR 6.46, p = 0.02, respectively). Also, a high educational level (> 13 years) was associated with a greater overall diagnostic delay (OR 8.74 p = 0.02), while previous abdominal surgery was significantly associated to reduced physician-dependant diagnostic delay (OR 0.19 p = 0.04). To conclude, SUDD may be diagnosed late, IBS being the most frequent misdiagnosis. Timely diagnosis is crucial to tackle the burden of SUDD on patients and healthcare.

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Diagnostic delay in adult coeliac disease: An Italian multicentre study

Cited by 5 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

Diagnostic delay in symptomatic uncomplicated diverticular disease: an Italian tertiary referral centre study

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