Mass population screening for celiac disease in children: the experience in Republic of San Marino from 1993 to 2009

Abstract

BackgroundPrevalence of celiac disease in developed countries is assessed about 1:100–1:150. The real prevalence is unknown because mass screenings are expensive and difficult to organize. Moreover celiac disease can affect people at every age and studies on asymptomatic subjects at different ages are not comparable. In this study we wanted to know the real prevalence of celiac disease in children in the Republic of San Marino. We also analysed concordance of different tests used and costs of mass screening.MethodsThe study started in 1993. From 1993 to 1997 children aged 6, 10 and 14 were screened. Since 1997 only children aged 6 were monitored, in order to have a homogeneous population. In fact, every child born since 1980 was taken into account. Children were recruited by classroom lists of students for general paediatric examination. Until 2005 the screening test was based on dosage of antibodies anti-gliadin (AGA) IgA and IgG on venous blood. Since 2006 these tests were replaced by anti-transglutaminase IgA antibodies (ATTG). Anti-endomysial antibodies (EMA) were performed if result of any between either AGA or ATTG tests was positive or borderline; if EMA was positive, then an endoscopy with histological examination was performed to confirm the final diagnosis.ResultsAttendance to paediatric examination was 96%, submission to blood test was 87%. 42 on 5092 (0,8%; 1:125) children resulted affected by celiac disease. Histology always confirmed diagnosis by serology except for two cases. AGA test (until 2005) yielded 28 on 4304 (0,7% 1:143); ATTG test (since 2006) revealed 14 positive cases on 788 (1,8%; 1:55) leading to a larger percentage of diagnosis. EMA antibodies always confirmed positivity of ATTG.ConclusionsPrevalence of celiac disease in children of Republic of San Marino is comparable to other North-European Countries. Sensitivity of ATTG proved much higher than that of anti-gliadin antibodies. Concordance between ATTG and EMA was 100%. Concordance between serology and histology was approximately 100%. Cost of screening was yearly about 5000 euros (250 children screened every year).

Current Paediatric Coeliac Disease Screening Strategies and Relevance of Questionnaire Survey

“…For the present, it is a question of economic expediency: mass screening is quite expensive due to the large number of test subjects compared to smaller cohorts of at-risk groups, although screening in the latter case requires a certain periodicity of analysis. According to the few available data, an accurate assessment of the cost-effectiveness of a mass CD screening programme is difficult, though in some screening studies such spending is not considered to be critical [39]. Along with the direct costs of diagnostic tests, instrumental and medical procedures, the cost of CD screening strategies should also include the costs of raising the awareness of clinicians (care providers) and parents, for accurate prediction and timely prevention of CD.…”

“…If the EMA test was positive, then an endoscopy with histological examination was performed to confirm the final diagnosis. It is significant that when screening was performed with the AGA serological test in San Marino, the prevalence of CD was 1: 169 or 0.6%, but later in the study the ATTG test was used for CD screening and the value of the overall CD prevalence increased to about 0.8% [39]. Screening for CD prevalence via the ATTG assay was carried out in a large paediatric population in Trieste; the prevalence in biopsy-proven coeliac subjects was found to be 1: 106 (0.9%) and the ratio of symptomatic to asymptomatic cases diagnosed was 1: 2 [44].…”

“…To date, a number of paediatric population studies have been carried out on the spread of CD and screening for CD (some of these are given by country in Table 2). The set of samples currently available with respect to large-scale screening for CD and the determination of CD-specific antibody titres in these samples is carried out, as a rule, over a long period of time (a year or longer, see Table 2 [39, 42-48]). For instance, in Finland, large-scale CD screening was conducted using collected serum samples obtained from children for HLA typing and analysis for the presence of EMA and tissue transglutaminase antibodies.…”

World Perspective and Celiac Disease Epidemiology

“…The screening program led to increased disease awareness among doctors and to the general education of people about CD. The screening program self-amplified because often nonsymptomatic relatives of affected children were investigated and diagnosed with CD [23]. …”

The New Epidemiology of Celiac Disease

“…Currently, mass screening for CD is not performed in any country, with the noteworthy exception of the small S. Marino Republic in Europe (31,534 inhabitants in 2012) (15). Currently, mass screening for CD is not performed in any country, with the noteworthy exception of the small S. Marino Republic in Europe (31,534 inhabitants in 2012) (15).…”