Patrón clínico y sensibilidad de la serología frente a la histología en niños celiacos HLA DQ2/DQ8 / PATTERNS IN CLINICAL PRESENTATIONS, SEROLOGY SENSITIVITY IN FRONT OF HISTOLOGY IN THE CHILDREN CELIACS HLA DQ2/DQ8

Introducción: En áreas tropicales donde el diagnóstico diferencial para enfermedad celíaca está presente, la determinación de HLA DQ2/DQ8 es útil para confirmar la existencia de la enfermedad en pacientes sintomáticos o no con serología negativa y lesión mucosal o anticuerpo positivo y mucosa nor- mal, con la limitante del costo elevado. Objetivo: conocer el patrón clínico en niños celiacos con determinación HLA DQ2/DQ8 e investigar la sensibilidad de la serología frente a la histología en el despistaje diagnóstico de la enfermedad. Pacientes y método: estudio prospectivo y transversal, que incluyo 18 niños celíacos con determinación de DQ2/DQ8. Se registró: edad, sexo, clínica, serología, biopsia y genética. Resultados: edad promedio 3,39 años (8meses-13 años),55,55% hembras. Patrón clínico clásico en 12/18 (66,67%), atípico 3/18 (16,67%), latente 2/18 (11,11%), potencial 1/18 (5,55%). En total 12/18 pacientes (66,67%) con serolo- gía positiva. A la histología: 2/18 mucosa normal (11,11%) y 16/18 alterada (88,89%), de ellos, 4 Marsh I, 5 Marsh II, 7 Marsh III. En todos los niños con serología positiva se observo lesión intestinal, 25% con atrofia de vellosidades. Con serología negativa, 4 con atrofia vellositaria (2/4 con déficit de Ig A) y 2 mucosa normal. Se encontró una sensibilidad de la serología para el diagnóstico en 75%, specificidad 100%. Exactitud diagnóstica en 77,77% de la serología frente a la histología. Conclusiones: la serología resulto con una sensibilidad aceptable para el despistaje diagnóstico de celíaca y la determinación de HLA DQ2/DQ8 fue de utilidad en la caracterización del patrón clínico y la detección de la enfer- medad un grupo de pacientes.

Introduction: In tropical areas where the differential diag- nosis for celiac disease is present, the determination of HLA DQ2/DQ8 is useful to confirm the existence of the disease in symptomatic patients or HIV negative and positive mucosal injury and mucosal antibody or normal with limiting the high cost. Objective: To determine the clinical pattern in celiac children with HLA determination DQ2/DQ8 and investigate the sensitivity of the serology screening histology in the diagnosis of disease. Patients and methods: Prospective, cross-sectional, which included 18 children with celiac DQ2/ DQ8 determination. Was recorded: age, sex, clinical, sero- logy, biopsy and genetics. Results: mean age 3.39 years (8m-13), 55.55% females. Classic clinical pattern in 12/18 (66.67%), atypical 3/18 (16.67%), latent 2/18 (11.11%), potential 1/18 (5.55%). In total 12/18 patients (66.67%) with positive serology. A histology: 2/18 normal mucosa (11.11%) and 16/18 altered (88.89%), of whom 4 Marsh I, 5 Marsh II, 7 Marsh III. In all children with positive serology bowel injury was observed, 25% villus atrophy. With negative serology, 4 with villous atrophy (2/4 with IgA deficiency) and 2 normal mucosa. We found a sensitivity of serology for diagnosis in 75%, specificity 100%. 77.77% diagnostic accuracy of serology against histology. Conclusions: resulted serology with acceptable sensitivity for the screening and diagnosis of celiac HLA determining DQ2/DQ8 was useful in characterizing the clinical pattern and disease detection a group of patients in characterizing the clinical pattern and detection of the disease a group of patients.

Celiac Disease in a Predisposed Subject (HLA-DQ2.5) with Coexisting Graves' Disease

Celiac disease is an intestinal autoimmune disorder, triggered by ingestion of a gluten-containing diet in genetically susceptible individuals. The genetic predisposition is related to human leukocyte antigen (HLA) class II genes, especially HLA-DQ2-positive patients. The prevalence of celiac disease has been estimated to be ~1% in Europe and the USA, but it is rarer and/or underdiagnosed in Asia. We report a case of celiac disease in a predisposed patient, with a HLA-DQ2 heterodimer, and Graves' disease that was treated successfully with a gluten-free diet. A 47-year-old woman complained of persistent chronic diarrhea and weight loss over a 9 month period. Results of all serological tests and stool exams were negative. However, the patient was found to carry the HLA DQ2 heterodimer. Symptoms improved after a gluten-free diet was initiated. The patient has been followed and has suffered no recurrence of symptoms while on the gluten-free diet. An overall diagnosis of celiac disease was made in a genetically predisposed patient (HLA-DQ2 heterodimer) with Graves' disease.