학술논문
CELIAC DISEASE SCREENING IN A LARGE DOWN SYNDROME COHORT: COMPARISON OF DIAGNOSTIC YIELD OF DIFFERENT SEROLOGICAL SCREENING TESTS/GENIS BIR DOWN SENDROMU KOHORTUNDA COLYAK HASTALIGI TARAMASI: FARKLI SEROLOJIK TARAMA TESTLERININ TANISAL VERIMLERININ KARSILASTIRILMASI
RESEARCH / ARASTIRMA
RESEARCH / ARASTIRMA
Document Type
Report
Author
Source
Journal of Istanbul Faculty of Medicine. December 2023, Vol. 86 Issue 4, p319, 8 p.
Subject
Language
English
ISSN
1305-6433
Abstract
INTRODUCTION Down Syndrome (DS) is the most common chromosomal disorder characterized by facial dysmorphism, intellectual disability, and congenital malformations. Patients with DS are at increased risk of developing autoimmune diseases, [...]
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 re-screened. 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 re-screened; 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 Amac: Down sendromlu (DS) hastalarda, Colyak hastaligi (CH) riski yuksektir. Bu calismada DS tanili hastalarda CH sikliginin arastirilmasi ve tarama algoritmalarinin tanisal veriminin karsilastirilmasi amaclanmistir. Gerec ve Yontem: Calismaya 1117 DS tanili hasta dahil edildi. Hastalar ilk uygulanan tarama yontemine gore uc gruba ayrildi. Birinci grup anti-gliadin antikor (AGA)-IgA/IgG, ikinci grup anti-endomisyum IgA antikoru (anti-EMA) ve ucuncu grup doku transglutaminaz (tTG)-IgA/IgG ile tarandi. Ucuncu grupta tTG-IgA veya tTG-IgG duzeyi yuksek saptanan hastalarda ikinci basamak test olarak anti-EMA duzeyi de olculdu. Olgularin takibinde 225 hastada tarama tekrarlandi. AGA-IgA/IgG yuksekligi, anti-EMA pozitifligi veya 3 kattan fazla tTG-IgA yuksekligi olan hastalarda ince bagirsak biyopsisi planlandi. Bulgular: Ilk taramada birinci gruptaki hastalarin %34,5'ine ince bagirsak biyopsisi yapildi, %2,3'u CH tanisi aldi. Ikinci ve ucuncu gruplarda hastalarin %1,8'ine ve %1,6'sina ince bagirsak biyopsisi yapildi ve sirasiyla %0,5 ve %1,3'une CH tanisi konuldu. Ilk taramada, tum hastalarin %1,3'u CH tanisi aldi. Izlemde colyak antikor testi veya bagirsak biyopsisi negatif cikan 225 hastada tarama tekrarlandi, bu hastalarin %8'ine ince bagirsak biyopsisi yapildi ve %4,9'u CH tanisi aldi. Toplamda tum hastalarin %2.3'une CH tanisi konuldu. AGA-IgA ve AGA-IgG'nin pozitif prediktif degeri (sirasiyla %13,6 ve %7,2), anti-EMA (%69,6) ve tTG-IgA'ya (%66,7) gore dusuk bulundu. CH olanlarin %42,3'unde gastrointestinal veya ekstraintestinal semptomlarmevcuttu. Sonuc: Bu calismada DS'lu hastalarda CH sikligi %2,3 saptandi. Ilk taramada CH saptanma orani %1,3 iken, tarama tekrarlandiginda bu oran %4.,9'a yukseldi. Sonuclarimiz, semptomatik olsun ya da olmasin, tum DS hastalarinda CH taramasinin duzenli olarak yapilmasi gerektigini desteklemektedir. Anahtar Kelimeler: Colyak hastaligi, Down sendromu, tarama
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 re-screened. 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 re-screened; 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 Amac: Down sendromlu (DS) hastalarda, Colyak hastaligi (CH) riski yuksektir. Bu calismada DS tanili hastalarda CH sikliginin arastirilmasi ve tarama algoritmalarinin tanisal veriminin karsilastirilmasi amaclanmistir. Gerec ve Yontem: Calismaya 1117 DS tanili hasta dahil edildi. Hastalar ilk uygulanan tarama yontemine gore uc gruba ayrildi. Birinci grup anti-gliadin antikor (AGA)-IgA/IgG, ikinci grup anti-endomisyum IgA antikoru (anti-EMA) ve ucuncu grup doku transglutaminaz (tTG)-IgA/IgG ile tarandi. Ucuncu grupta tTG-IgA veya tTG-IgG duzeyi yuksek saptanan hastalarda ikinci basamak test olarak anti-EMA duzeyi de olculdu. Olgularin takibinde 225 hastada tarama tekrarlandi. AGA-IgA/IgG yuksekligi, anti-EMA pozitifligi veya 3 kattan fazla tTG-IgA yuksekligi olan hastalarda ince bagirsak biyopsisi planlandi. Bulgular: Ilk taramada birinci gruptaki hastalarin %34,5'ine ince bagirsak biyopsisi yapildi, %2,3'u CH tanisi aldi. Ikinci ve ucuncu gruplarda hastalarin %1,8'ine ve %1,6'sina ince bagirsak biyopsisi yapildi ve sirasiyla %0,5 ve %1,3'une CH tanisi konuldu. Ilk taramada, tum hastalarin %1,3'u CH tanisi aldi. Izlemde colyak antikor testi veya bagirsak biyopsisi negatif cikan 225 hastada tarama tekrarlandi, bu hastalarin %8'ine ince bagirsak biyopsisi yapildi ve %4,9'u CH tanisi aldi. Toplamda tum hastalarin %2.3'une CH tanisi konuldu. AGA-IgA ve AGA-IgG'nin pozitif prediktif degeri (sirasiyla %13,6 ve %7,2), anti-EMA (%69,6) ve tTG-IgA'ya (%66,7) gore dusuk bulundu. CH olanlarin %42,3'unde gastrointestinal veya ekstraintestinal semptomlarmevcuttu. Sonuc: Bu calismada DS'lu hastalarda CH sikligi %2,3 saptandi. Ilk taramada CH saptanma orani %1,3 iken, tarama tekrarlandiginda bu oran %4.,9'a yukseldi. Sonuclarimiz, semptomatik olsun ya da olmasin, tum DS hastalarinda CH taramasinin duzenli olarak yapilmasi gerektigini desteklemektedir. Anahtar Kelimeler: Colyak hastaligi, Down sendromu, tarama