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ESPGHAN COMMITTEE to revise the diagnostic protocol of Celiac Disease Prof. Riccardo Troncone, President March 2010.

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Presentation on theme: "ESPGHAN COMMITTEE to revise the diagnostic protocol of Celiac Disease Prof. Riccardo Troncone, President March 2010."— Presentation transcript:

1 ESPGHAN COMMITTEE to revise the diagnostic protocol of Celiac Disease Prof. Riccardo Troncone, President March 2010

2 Evidence statements From a pathological point of view, the small intestinal enteropathy in celiac disease may be of variable severity. A spectrum of histological signs could be present ranging from lymphocytic infiltration of the epithelium to villous atrophy. In CD positive serology may be present also in subjects with completely normal small intestinal mucosa.

3 Evidence statements Patchiness of the lesion may be present. Lesions may be present only at the level of duodenal bulb.

4 Evidence statements Higher IgA anti-tTG titres are positively correlated to high grade lesions Milder lesions (Marsh 1) are non-specific as only 10% of subjects presenting this pattern has been proven to be affected by celiac disease. In the presence of mild lesions high γδ cells count increases specificity for the diagnosis of CD. In the presence of mild lesions presence of local IgA antitissue transglutaminase deposits increases specificity for the diagnosis of CD.

5 Recommendations : Biopsy The histology might be omitted in symptomatic cases (see list in the section “whom to test”), who have high IgA anti- tTG titres (above 10x upper normal limit), verified by EMA positivity, who are HLA DQ2 and/or DQ8 heterodimer positive.

6 Recommendations : Marsh 1-2 In case of mild lesions (Marsh 1-2) additional supportive evidence (serology, HLA, IgA anti-tTG intestinal deposits, high IEL γδ count) should be looked for, before establishing the diagnosis of CD. In the absence of CD serology (anti-tissue trasglutaminase /EMA) the diagnosis of CD is unlikely.

7 Recommendations : Sample Biopsies should be taken preferably during upper endoscopy. Biopsies should be taken from the bulb (at least one) and from the second or third portion of duodenum (at least four).

8 Recommendations : handling Correct orientation of the biopsy is crucial for a correct interpretation. The pathology report should include description of the orientation, evaluation of villi (normal or degree of atrophy), crypts, villous/crypt ratio, number of IELs. Grading according to Marsh-Oberhuber should be reported.

9 Recommendations : Challenge Patients diagnosed with CD do not need histology on gluten-free diet (GFD). Disappearance of symptoms with normalisation of CD serology might be sufficient to support the diagnosis. If there is no clinical response to the GFD, after a careful dietary assessment excluding lack of compliance, further investigations are required, which could include a new biopsy.

10 Recommendations : Challenge Gluten challenge is not considered mandatory, except under unusual circumstances. These include situations where there is doubt about the initial diagnosis. Gluten challenge should be discouraged before the age of 6 years and during the pubertal growth spurt. Gluten challenge should always be performed under strict medical supervision.

11 Recommendations Gluten challenge might be preceded by HLA typing and assessment of mucosal histology. Diet during challenge should contain a normal amount of gluten. IgA anti tissue transglutaminase (IgG in the case of IgA deficiency) should be measured during the challenge period. A patient should be considered relapsed (and hence the diagnosis of CD confirmed) if CD serology will become positive and a clinical and/or histological relapse observed. In the case HLA is not typical a biopsy should always be taken to confirm the diagnosis.

12 Step Up or Step Down ? If we aim to expand significantly the identification of individuals who suffer from CD we have to expand on the simplest starting steps : Focus on early ages (3-6 years) Clinical Awareness + Point-of-care Max efforts on Anti-Tissue Transglutaminase Immediately next HLA simple typing

13 NATIONAL AND REGIONAL POLICIES Disseminate awareness about CD in children (first !) Establish a network of centers were the Anti-T-TG is available (quality) Identify the network of diagnostic centers Back up participants by continuous communication ( Web + Mails + Papers + Spots, iTunes, Facebook ecc)

14 Expand new simple High-Tech Communication Referral of Cases Quality controls on sera Point-of-care + referral sample CD-MEDICS ? Fresh back up and surveillance on the national networks

15 Biopsy : sampling and analysis Use local endoscopist wherever available Consider Crosby Capsule +X- Scopy Management of biopsy specimens (distribute filters and inclusion vials ?) Orientation on the cut and handling Photos in jpeg and referral to MEDICEL


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