CELIAC DISEASE SCREENING IN A LARGE DOWN SYNDROME COHORT: COMPARISON OF DIAGNOSTIC YIELD OF DIFFERENT SEROLOGICAL SCREENING TESTS

Year 2023, Volume: 86 Issue: 4, 319 - 326, 01.12.2023

Dilek Uludağ Alkaya Seçil Sözen Birol Öztürk Nuray Kepil Tülay Erkan Tufan Kutlu Beyhan Tüysüz

https://doi.org/10.26650/IUITFD.1313821

Abstract

Objective: Down syndrome (DS) patients have a higher risk of developing Celiac disease (CD) than the general population. This study aimed to estimate the prevalence of CD in DS patients and compare the diagnostic performance of the screening algorithms.
Material and Method: A cohort of 1117 DS patients were included. Patients were grouped according to the initial screening method. Anti-gliadin antibody (AGA)-IgA/IgG were measured in the first, endomysial antibody-IgA (EMA) in the second, and tissue transglutaminase (tTG)-IgA/IgG in the third group. Additionally, EMA was also measured in patients with elevated tTGIgA or tTG-IgG levels. In the follow-up, 225 patients were rescreened. Intestinal biopsy was planned in patients with positive AGA-IgA/IgG, positive EMA, or more than threefold elevated tTG-IgA levels.
Result: Based on the initial screening, 34.5% of the patients in the first group underwent a biopsy, and 2.3% were diagnosed with CD. In the second and third groups, 1.8% and 1.6% of patients underwent biopsy, and CD was diagnosed in 0.5% and 1.3%, respectively. Among all patients, 1.3% were diagnosed with CD at initial screening. Two hundred twenty-five patients with negative initial screening tests or intestinal biopsy were rescreened; 8% underwent biopsy and CD was confirmed in 4.9%. Overall, 2.3% of patients were diagnosed with CD. The positive predictive value of AGA-IgA and AGA-IgG was low (13.6% and 7.2%, respectively) compared to EMA (69.6%) and tTG-IgA (66.7%). Gastrointestinal or extraintestinal symptoms were present in 42.3% of CD patients, and none of them had short stature.
Conclusion: Celiac disease was detected in 2.3% of DS patients. The CD detection rate was 1.3% at initial screening but increased to 4.9% at rescreening. Our results strongly suggest that CD screening should be performed regularly in all DS patients, whether they are symptomatic or not.

Keywords

Celiac disease, Down syndrome, screening

GENİŞ BİR DOWN SENDROMU KOHORTUNDA ÇÖLYAK HASTALIĞI TARAMASI: FARKLI SEROLOJİK TARAMA TESTLERİNİN TANISAL VERİMLERİNİN KARŞILAŞTIRILMASI

Abstract

Amaç: Down sendromlu (DS) hastalarda, Çölyak hastalığı (ÇH) riski yüksektir. Bu çalışmada DS tanılı hastalarda ÇH sıklığının araştırılması ve tarama algoritmalarının tanısal veriminin karşılaştırılması amaçlanmıştır.
Gereç ve Yöntem: Çalışmaya 1117 DS tanılı hasta dahil edildi. Hastalar ilk uygulanan tarama yöntemine göre üç gruba ayrıldı. Birinci grup anti-gliadin antikor (AGA)-IgA/IgG, ikinci grup anti-endomisyum IgA antikoru (anti-EMA) ve üçüncü grup doku transglutaminaz (tTG)-IgA/IgG ile tarandı. Üçüncü grupta tTG-IgA veya tTG-IgG düzeyi yüksek saptanan hastalarda ikinci basamak test olarak anti-EMA düzeyi de ölçüldü. Olguların takibinde 225 hastada tarama tekrarlandı. AGA-IgA/IgG yüksekliği, anti-EMA pozitifliği veya 3 kattan fazla tTG-IgA yüksekliği olan hastalarda ince bağırsak biyopsisi planlandı.
Bulgular: İlk taramada birinci gruptaki hastaların %34,5'ine ince bağırsak biyopsisi yapıldı, %2,3'ü ÇH tanısı aldı. İkinci ve üçüncü gruplarda hastaların %1,8'ine ve %1,6'sına ince bağırsak biyopsisi yapıldı ve sırasıyla %0,5 ve %1,3'üne ÇH tanısı konuldu. İlk taramada, tüm hastaların %1,3'ü ÇH tanısı aldı. İzlemde çölyak antikor testi veya bağırsak biyopsisi negatif çıkan 225 hastada tarama tekrarlandı, bu hastaların %8'ine ince bağırsak biyopsisi yapıldı ve %4,9'u ÇH tanısı aldı. Toplamda tüm hastaların %2.3'üne ÇH tanısı konuldu. AGA-IgA ve AGA-IgG'nin pozitif prediktif değeri (sırasıyla %13,6 ve %7,2), anti-EMA (%69,6) ve tTG-IgA'ya (%66,7) göre düşük bulundu. ÇH olanların %42,3'ünde gastrointestinal veya ekstraintestinal semptomlarmevcuttu.
Sonuç: Bu çalışmada DS'lu hastalarda ÇH sıklığı %2,3 saptandı. İlk taramada ÇH saptanma oranı %1,3 iken, tarama tekrarlandığında bu oran %4.,9'a yükseldi. Sonuçlarımız, semptomatik olsun ya da olmasın, tüm DS hastalarında ÇH taramasının düzenli olarak yapılması gerektiğini desteklemektedir.

Keywords

Çölyak hastalığı, Down sendromu, tarama

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