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Screening Celiac Disease in At-risk Groups: Effect of Diagnosis on Perceived Health of Children and Their Families

Valitutti, Francesco; Barbato, Maria; Cucchiara, Salvatore

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Journal of Pediatric Gastroenterology and Nutrition: October 2012 - Volume 55 - Issue 4 - p 365
doi: 10.1097/MPG.0b013e31825f1617
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See “Burden of Illness in Screen-detected Children With Celiac Disease and Their Families” by Kinos et al on page 412.

In the last 3 decades, the medical community has experienced the transition of celiac disease (CD) from an often neglected childhood gastrointestinal disorder to everyday general clinical practice. The development of accurate serologic tests has unveiled the true prevalence of celiac disease, which is regarded as roughly 1% worldwide.

The more widespread availability of serologic tests has enabled screening studies that have been conducted both in at-risk groups and in the general population. Although mass screening remains controversial because of uncertainties concerning the natural history of the disease, effect on quality of life, and cost–benefit analysis, screening in at-risk groups (eg, first-degree relatives of patients with CD, type 1 diabetes mellitus, Down syndrome, autoimmune thyroid disease) is recommended by the recent ESPGHAN guidelines (1). This recommendation, however, derives from the nonunanimous consensus in the ESPGHAN working group (11 of 13 experts), which indicates a certain degree of disagreement among European opinion leaders on this specific issue.

Screening at-risk individuals, among whom the prevalence of CD is known to be higher, increases the positive predictive value of serological tests and identifies patients who could benefit from an early diagnosis. Nevertheless, it is still debatable whether CD diagnosis in asymptomatic at-risk individuals is always wholly beneficial because dietary compliance and quality of life issues often begin.

It is generally agreed that adherence to a strict lifelong gluten-free diet (GFD) may be burdensome for some patients, especially asymptomatic adolescents. An Italian case series on asymptomatic screen-detected adolescents showed that they were less compliant with the diet than peers with CD who had been diagnosed because of CD-related symptoms (2). On contrary, a 14-year follow-up study of adults from Finland highlighted high rates of compliance among screen-detected patients in at-risk groups (3). Here, it is conceivable that older age and better understanding of the importance of the GFD for their health — probably because they were “at-risk” — may have played a role in optimizing compliance with the diet; moreover, the excellent social awareness of CD, coupled with the overall lower consumption of wheat in Finland as compared with other countries, definitely made following the diet an easier task.

When considering the quality of life of screen-detected patients with celiac disease, the current evidence is limited and conflicting. The aforementioned Finnish study also explored quality of life in the same group: according to these findings, quality of life evaluated by Psychological General Well-Being and SF-36 questionnaires did not differ among symptom-detected, screen-detected, and healthy control subjects (3). Likewise, another study from Sweden examined quality of life among asymptomatic screen-detected youngsters with CD before their diagnosis, youngsters with CD diagnosed by case finding already on a GFD, and healthy controls: There were no differences among the three groups as regards health status and health-related quality of life (4). Conversely, a UK study demonstrated that 27% of screen-detected patients completely regretted being diagnosed with CD, therefore questioning the acceptability of the treatment and addressing the burden of the condition among asymptomatic individuals (5).

Given these inconclusive previous data, the article by Kinos et al (6) featured in this issue of JPGN sheds further light on the opportunity to screen at-risk children for CD. Using a structured questionnaire mailed at diagnosis and at 1-year follow-up, Kinos et al observed both an improvement in self-perceived health and a reduction in parental concern in asymptomatic screen-detected at-risk children; in addition, the self-reported compliance rate between screen-detected patients and those identified by case finding was comparably high (71% vs 84%, P value not significant).

In conclusion, despite some limitations inherent in self-reported dietary compliance and in possible selection bias because all of the participants were members of the local celiac society, Kinos et al underline the excellent acceptability of the diagnosis among asymptomatic children and their families in Finland. Nevertheless, whether these results are generalizable to other countries with different dietary habits and lower social awareness of CD still requires further investigation.


1. Husby S, Koletzko S, Korponay-Szabó IR, et al. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease. J Pediatr Gastroenterol Nutr 2012; 54:136–160.
2. Fabiani E, Taccari LM, Rätsch IM, et al. Compliance with gluten-free diet in adolescents with screening-detected celiac disease: a 5-year follow-up study. J Pediatr 2000; 136:841–843.
3. Viljamaa M, Collin P, Huhtala H, et al. Is coeliac disease screening in risk groups justified? A fourteen-year follow-up with special focus on compliance and quality of life. Aliment Pharmacol Ther 2005; 22:317–324.
4. Nordyke K, Norström F, Lindholm L, et al. Health-related quality-of-life in children with coeliac disease, measured prior to receiving their diagnosis through screening. J Med Screen 2011; 18:187–192.
5. Whitaker JK, West J, Holmes GK, et al. Patient perceptions of the burden of coeliac disease and its treatment in the UK. Aliment Pharmacol Ther 2009; 29:1131–1136.
6. Kinos S, Kurppa K, Ukkola A, et al. Burden of illness in screen-detected children with celiac disease and their families. J Pediatr Gastroenterol Nutr 2012;55:412–6.
Copyright 2012 by ESPGHAN and NASPGHAN