SERONEGATIVE CELIAC DISEASE IN BRAZILIAN PATIENTS: A SERIES OF CASES

• Published in: Arquivos de gastroenterologia 2021-06, Vol.58 (2), p.214-216
• Main Authors: KOTZE, Lorete M S, UTIYAMA, Shirley R R, KOTZE, Luiz Roberto, NISIHARA, Renato
• Format: Article
• Language: English
• Subjects: autoantibodies; Celiac disease; diagnosis; GASTROENTEROLOGY & HEPATOLOGY
• ISSN: 0004-2803; 1678-4219; 1678-4219
• DOI: 10.1590/s0004-2803.202100000-39

ABSTRACT BACKGROUND: Celiac disease (CD) is an autoimmune disease characterized by immune reaction mostly to wheat gluten. The diagnosis is based on clinical, serological and histological findings in patients ingesting gluten. Cases that the clinical profile indicates CD and the autoantibodies are negative bring so a dilemma for the professional, as the risk of missed the diagnosis or a delay at the same. OBJECTIVE: To show the importance of correct diagnosis of cases with seronegative celiac disease (SNCD). METHODS: Ten cases of SNCD Brazilian patients were retrospectively studied (2013 to 2019). Data of clinical complaints, autoantibodies, IgA serum levels, histological findings and HLA-DQ2/DQ-8 were compiled. Dual-X densitometry, delay at diagnosis, previous autoimmune diseases and family history of CD were also checked. RESULTS: All SNCD patients presented clinical symptoms of CD, with confirmed diagnosis by histological findings of the duodenal mucosa and HLA-DQ2 and/or HLA-DQ8 positivity. All patients had normal IgA levels and negative autoantibodies (IgA-anti-transglutaminase and anti-endomysial). Dual-X densitometry detected osteopenia in two women and osteoporosis in two males, all with low levels of vitamin D. Delay diagnostic ranged from 1 to 19 years. Familiar occurrence of CD was reported in 40% of the cases. After one year of gluten-free diet, eight patients refer improve of symptoms, while duodenal biopsies, done in five cases, showed histological improvement. CONCLUSION: Patients who demonstrate the clinical profile of celiac disease with negative serology and normal levels of IgA, especially those who have family members with celiac disease, should be submitted to duodenal biopsies to look for histological findings. RESUMO CONTEXTO: A doença celíaca (DC) é uma doença autoimune caracterizada por reação imune principalmente ao glúten do trigo. O diagnóstico é baseado em achados clínicos, sorológicos e histológicos em pacientes que ingerem glúten. Casos em que o perfil clínico indica DC e os autoanticorpos são negativos trazem um dilema para o profissional, como o risco de não realizar ou atrasar o diagnóstico da DC. OBJETIVO: Mostrar a importância do diagnóstico correto de casos com doença celíaca soronegativa (DCSN). MÉTODOS: Dez casos de pacientes brasileiros com DCSN foram estudados retrospectivamente (2013 a 2019). Foram compilados dados de queixas clínicas, autoanticorpos, níveis séricos de IgA, achados histológicos e HLA-DQ2 / DQ-8. De