Impact of delay in diagnosis in patients with celiac disease: A study of 570 patients at a tertiary care center

Dhar, Jahnvi; Samanta, Jayanta; Sharma, Megha; Kumar, Sanjay; Sinha, Saroj Kant; Kochhar, Rakesh

doi:10.1007/s12664-021-01214-3

Cited by 3 publications

(4 citation statements)

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“…Notably, this more severe stool pattern represented by watery diarrhea may be related to the local clinical context which might be characterized by a significant diagnostic delay compared to developed countries. The high Marsh degree (at least III, in >80% of our CD patients) and the presence of very high anti-tTG IgA levels in all our patients, except those with low total IgA levels, may let us speculate about a longer clinical course before CD diagnosis despite such a classical disease presentation, at least in pediatric patients, as also discussed in a couple of recent studies [34,35]. The more accentuated impairment of auxological parameters in our CD patients compared to non-CD children might support this speculation, as discussed by Riznik et al in their analysis of the clinical presentation of CD children from Central Europe [29].…”

Section: Discussionsupporting

confidence: 60%

Celiac Disease in Uzbek Children: Insights into Disease Prevalence and Clinical Characteristics in Symptomatic Pediatric Patients

Kamilova,

Azizova,

Poddighe

et al. 2023

Diagnostics

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Background: A few studies on pediatric Celiac Disease (CD) are available from Central Asia. Recent immunogenetic research has highlighted that the HLA-DQ2/8 genetic predisposition to CD as well as the dietary intake of gluten in this geographical area, are comparable to other regions of the world where CD prevalence is known to be 1% or higher. Methods: This is a prospective and cross-sectional study investigating the prevalence and clinical characteristics of CD in symptomatic children referred to the pediatric gastroenterology department of a tertiary hospital in Uzbekistan from 1 September 2021, until 31 July 2022. In addition to collecting the relevant information related to clinical manifestations and laboratory analyses from the clinical files, a specific survey was also administered to patients’ guardians. Serological, histopathological, and immunogenetic parameters specific to CD, fecal zonulin, and pancreatic elastases were assessed in CD patients. Results: The study population consisted of 206 children. Overall, almost all of them (n = 192; 93.2%) were referred because of gastrointestinal manifestations, which were associated with extra-gastrointestinal manifestations in most cases (n = 153; 74.3%); a minority (n = 14; 6.8%) was mainly referred due short stature and/or growth failure only. Among all of these study participants, CD was diagnosed in 11 children (5.3%). Notably, although diarrhea was similarly reported in CD and non-CD patients, watery diarrhea (type 7 according to the Bristol stool scale) was much more frequently and significantly observed in the former group. All of these CD patients showed anti-tTG IgA 10 times higher than the upper normal limit, except one child with lower serum levels of total IgA; however, all of them received a diagnostic confirmation by histopathological analysis due to the lack of EMA testing in the country. Notably, most CD children (82%) showed a Marsh III histological grading. Around half patients (54.5%) showed zonulin values above the reference range, whereas none showed insufficient levels of pancreatic elastase. However, no correlation or association between zonulin and clinical, laboratory, histopathological, and immunogenetic parameters was found. Conclusions: This study may further suggest a relevant prevalence of CD in Uzbek children, based on this partial picture emerging from symptomatic patients only. Additionally, we highlighted the prevalence of typical CD forms with watery diarrhea, which should strongly support a full diagnostic work-up for CD in the local clinical setting. The high levels of anti-tTG IgA and high Marsh grade might also lead us to speculate a significant diagnostic delay despite the classical clinical expression of CD.

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Section: Discussionsupporting

confidence: 60%

Celiac Disease in Uzbek Children: Insights into Disease Prevalence and Clinical Characteristics in Symptomatic Pediatric Patients

Kamilova,

Azizova,

Poddighe

et al. 2023

Diagnostics

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“…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 22 . Some of these clinical outcomes are reversible after initiation of GFD; others such as growth failure, infertility, and bone loss may be reversible only if the disease is diagnosed early, and GFD is initiated early.…”

Section: Discussionmentioning

confidence: 99%

“…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. 22 Some of these clinical outcomes are reversible after initiation of GFD; others such as growth failure, infertility, and bone loss may be reversible only if the disease is diagnosed early, and GFD is initiated early. This knowledge is important because the existing literature also suggests that adult patients with CeD are shorter compared with their peers in the general population.…”

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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Editorial commentary on the Indian Journal of Gastroenterology—January–February 2022

Limdi

2022

Indian J Gastroenterol

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Impact of delay in diagnosis in patients with celiac disease: A study of 570 patients at a tertiary care centerThe clinical presentation of celiac disease (CD) is highly variable, ranging from gastrointestinal symptoms from malabsorption, extraintestinal manifestations to being asymptomatic. Consequently, a significant proportion of patients may remain undiagnosed, be misdiagnosed, or experience diagnostic delays [1]. The implications of delayed diagnosis are less well studied. Dhar et al. from the Postgraduate Institute of Medical Education and Research, Chandigarh, India, report a retrospective analysis of 570 individuals with CD [2]. Patients were divided into an early-diagnosis (≤ 3 years; 289 patients) or a late-diagnosis (> 3 years; 281 patients) group.Patients in the late-diagnosis group had lower rates of diarrhea as the presenting symptom but higher rates of anemia, pubertal delay, and menstrual irregularities as well as laboratory abnormalities with lower hemoglobin, ferritin, and vitamin D levels and higher anti-tissue transglutaminase antibody titers with higher grades of villous atrophy at presentation. Among unmet needs for CD, physician awareness of diagnostic criteria, improved access to specialist assessment, and the impact of education about gluten-free eating as well as access and availability of gluten-free foods to support adherence need further study.

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Impact of delay in diagnosis in patients with celiac disease: A study of 570 patients at a tertiary care center

Cited by 3 publications

References 30 publications

Celiac Disease in Uzbek Children: Insights into Disease Prevalence and Clinical Characteristics in Symptomatic Pediatric Patients

Celiac Disease in Uzbek Children: Insights into Disease Prevalence and Clinical Characteristics in Symptomatic Pediatric Patients

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

Editorial commentary on the Indian Journal of Gastroenterology—January–February 2022

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