Non-Biopsy Serology-Based Diagnosis of Celiac Disease in Adults Is Accurate with Different Commercial Kits and Pre-Test Probabilities

Non-biopsy diagnosis of celiac disease is possible in children with anti-transglutaminase 2 antibodies (TGA) > 10× the upper limit of normal (ULN) and positive anti-endomysial antibodies (EMA). Similar criteria have been suggested for adults, but evidence with different TGA assays is scarce. We compared the performance of four TGA tests in the diagnosis of celiac disease in cohorts with diverse pre-test probabilities. Serum samples from 836 adults with either clinical suspicion or family risk of celiac disease were tested with four commercial TGA assays, EmA and celiac disease-associated genetics. The diagnosis was set based on duodenal lesion or, in some cases, using special methods. 137 (57%) patients with clinical suspicion and 85 (14%) of those with family risk had celiac disease. Positive predictive value (PPV) for 10×ULN was 100% in each TGA test. The first non-diagnostic investigations were encountered with ULN 1.0×–5.1× in the clinical cohort and 1.3×–4.9× in the family cohort, respectively. Using the assays’ own cut-offs (1×ULN) the PPVs ranged 84–100%. Serology-based diagnosis of celiac disease was accurate in adults using different commercial kits and pre-test probabilities using 10×ULN. The results also suggest that the ULN threshold for biopsy-omitting approach could be lower.

Lymphocytic colitis in the setting of teriflunomide use for relapsing multiple sclerosis

Teriflunomide is an oral monotherapy used to treat relapsing multiple sclerosis. Although teriflunomide may be associated with gastrointestinal symptoms, these events are mild and self-limiting. We present a 39-year-old female who developed severe diarrhea and lost 20 pounds within 3 weeks of starting teriflunomide. Despite discontinuing teriflunomide and undergoing cholestyramine washout, her symptoms persisted. Celiac disease on genetic testing was positive, but no anti-transglutaminase and anti-endomysial antibodies were detected. She underwent colonoscopy and biopsy was consistent with lymphocytic colitis. Remission was achieved within days of starting budenoside. Our case describes a rare, but serious, gastrointestinal adverse event of teriflunomide.

Multifactorial Etiology of Anemia in Celiac Disease and Effect of Gluten-Free Diet: A Comprehensive Review

Celiac disease (CD) is a multisystemic disorder with different clinical expressions, from malabsorption with diarrhea, anemia, and nutritional compromise to extraintestinal manifestations. Anemia might be the only clinical expression of the disease, and iron deficiency anemia is considered one of the most frequent extraintestinal clinical manifestations of CD. Therefore, CD should be suspected in the presence of anemia without a known etiology. Assessment of tissue anti-transglutaminase and anti-endomysial antibodies are indicated in these cases and, if positive, digestive endoscopy and intestinal biopsy should be performed. Anemia in CD has a multifactorial pathogenesis and, although it is frequently a consequence of iron deficiency, it can be caused by deficiencies of folate or vitamin B12, or by blood loss or by its association with inflammatory bowel disease (IBD) or other associated diseases. The association between CD and IBD should be considered during anemia treatment in patients with IBD, because the similarity of symptoms could delay the diagnosis. Vitamin B12 deficiency is common in CD and may be responsible for anemia and peripheral myeloneuropathy. Folate deficiency is a well-known cause of anemia in adults, but there is little information in children with CD; it is still unknown if anemia is a symptom of the most typical CD in adult patients either by predisposition due to the fact of age or because biochemical and clinical manifestations take longer to appear.

Khảo sát tỷ lệ mắc bệnh Celiac của trẻ em tại Bệnh viện Nhi Trung ương

Đặt vấn đề: Tỷ lệ mắc bệnh celiac ở các nhóm dân số khác nhau trên thế giới dao động từ0,3- 1,25%. Có rất ít dữ liệu về tỷ lệ bệnh celiac ở nhóm người Châu Á, đặc biệt tại Việt Namchưa có số liệu thống kê nào về bệnh này.Mục tiêu: nghiên cứu này xác định tỷ lệ mắc bệnh celiac ở trẻ em đến khám tại bệnh việnNhi Trung ương.Đối tượng và phương pháp nghiên cứu: Tất cả các trẻ trên 2 tuổi đến khám tại khoaKhám bệnh của Bệnh viện Nhi Trung ương có chỉ định lấy máu xét nghiệm. Kháng thể IgAkháng transglutaminase (IgA anti- tTG)được định lượng bằng phương pháp ELISA, khángthể kháng màng ngoài tế bào cơ (EMA- anti endomysial antibodies) được định lượng bằngphương pháp miễn dịch huỳnh quang gián tiếp. HLA DQ2/ DQ8 được xác định bằng phươngpháp PCR với mồi đặc hiệu allele.Kết quả: 21/1961 trẻ (838 trẻ gái và 1123 trẻ trai) tham gia nghiên cứu có IgA antitransglutaminase dương tính, tuy nhiên EMA đều âm tính; HLA liên quan đến bệnh celiactìm thấy ở 7/21 trường hợp. Xét nghiệm ngẫu nhiên 275 trẻ âm tính với IgA anti- tTG vàEMA, HLA DQ2 tìm thấy ở 55/275 (20%) trường hợp và HLA DQ8 tìm thấy ở 17/275 (6%)trường hợp.Kết luận: Bệnh celiac hiếm gặp ở Việt Nam có thể do thức ăn chủ yếu của người Việt Namlà từ gạo. Tần suất xuất hiện của HLA DQ2 và HLA DQ8 ở trẻ em Việt Nam giống như cácnước khác