ABSTRACT
OBJECTIVES: To investigate the presence of celiac disease (CD) in close family members of celiac patients, and the possible clinical differences between family members diagnosed and their respective index cases. DESIGN: Descriptive, observational study based on a series of cases. SETTING: Health centre and hospital. PARTICIPANTS: Family members of celiac patients registered with the Association of Celiacs of Andalusia, based in Sevilla. MAIN MEASUREMENTS: Patients and family members were interviewed and 2 questionnaires were filled in. The first, aimed at celiacs, recorded details of their disease and the second recorded personal details, current illnesses, personal history and the family members of all participants. IgA endomysium antibodies were determined only in family members. RESULTS: 56 of 215 families recorded took part, with 239 participants. Of the 56 patients, 1 per family, presentation at the moment of diagnosis was malabsorption syndrome. Of 165 family members studied, 11 cases with positive IgA endomysium antibodies were found and 5 actually with CD. One of these was asymptomatic, three presented with atypical forms of CD and another was diagnosed with herpetiform dermatitis. CONCLUSIONS: That CD was most commonly found among close family members, along with its asymptomatic or atypical clinical presentation, justifies the active search for cases. Primary care doctors should question family members as to whether they have been tested for the disease. If not, adults should be checked for the antibodies referred to and children should be referred to their paediatricians for this purpose.
Subject(s)
Celiac Disease/genetics , Adolescent , Adult , Celiac Disease/epidemiology , Child , Child, Preschool , Female , Humans , Male , Middle AgedABSTRACT
Objetivo. Investigar la presencia de enfermedad celíaca (EC) entre los familiares de primer grado de pacientes celíacos, así como las posibles diferencias clínicas entre familiares diagnosticados y sus respectivos casos índices. Diseño. Estudio observacional, descriptivo, basado en una serie de casos. Emplazamiento. Centro de salud y hospital. Participantes. Familiares de pacientes celíacos inscritos en la Asociación de Celíacos de Andalucía, residentes en Sevilla. Mediciones principales. Se entrevistó a los pacientes y sus familiares y se cumplimentaron 2 cuestionarios. El primero, dirigido a celíacos, permitió registrar datos de la enfermedad y el segundo, datos de filiación, enfermedades actuales, antecedentes personales y familiares de todos los participantes. Se efectuó una determinación de anticuerpos antiendomisio IgA (AEM IgA) exclusivamente a los familiares. Resultados. De 215 familias censadas, acudieron 56, computándose 239 participantes. En los 56 pacientes, 1 por cada familia, la forma de presentación en el momento del diagnóstico fue el síndrome de hipoabsorción. En 165 familiares estudiados se observaron 11 casos con AEM IgA positivos y se confirmó la presencia de enfermedad celíaca en 5. De ellos, uno estaba asintomático, 3 presentaban formas atípicas de enfermedad celíaca y uno fue diagnosticado de dermatitis herpetiforme. Conclusiones. La mayor frecuencia de enfermedad entre los familiares de primer grado, junto con su presentación clínica asintomática o atípica, justifican la búsqueda activa de casos. Se considera que los médicos de atención primaria deberían interrogar a estos familiares para averiguar si se les ha realizado el cribado de la enfermedad. En su defecto, a los adultos se les solicitarían los anticuerpos referidos y los niños serían remitidos a sus pediatras para tal fin
Objectives. To investigate the presence of celiac disease (CD) in close family members of celiac patients, and the possible clinical differences between family members diagnosed and their respective index cases. Design. Descriptive, observational study based on a series of cases. Setting. Health centre and hospital. Participants. Family members of celiac patients registered with the Association of Celiacs of Andalusia, based in Sevilla. Main measurements. Patients and family members were interviewed and 2 questionnaires were filled in. The first, aimed at celiacs, recorded details of their disease and the second recorded personal details, current illnesses, personal history and the family members of all participants. IgA endomysium antibodies were determined only in family members. Results. 56 of 215 families recorded took part, with 239 participants. Of the 56 patients, 1 per family, presentation at the moment of diagnosis was malabsorption syndrome. Of 165 family members studied, 11 cases with positive IgA endomysium antibodies were found and 5 actually with CD. One of these was asymptomatic, three presented with atypical forms of CD and another was diagnosed with herpetiform dermatitis. Conclusions. That CD was most commonly found among close family members, along with its asymptomatic or atypical clinical presentation, justifies the active search for cases. Primary care doctors should question family members as to whether they have been tested for the disease. If not, adults should be checked for the antibodies referred to and children should be referred to their paediatricians for this purpose
