Celiac disease in first degree relatives of celiac children.

CONTEXT: The first degree relatives of celiac patients represent a high risk group for the development of this disorder, so their screening may be crucial in the prevention of long-term complications. OBJECTIVE: In order to determine the prevalence of celiac disease in a group of first degree relatives of children with proven gluten intolerance, we conducted a prospective study that consisted in the screening of celiac disease, using a capillary immunoassay rapid test that allows a qualitative detection of IgA antibody to human recombinant tissue transglutaminase (IgA-TTG). METHODS: When the screening test was positive subjects were advised to proceed with further investigation. The screening test was performed in 268 first degree relatives (143 mothers, 89 fathers, 36 siblings) corresponding to 163 children with celiac disease. RESULTS: Screening test was positive in 12 relatives (4.5%), of which 1 refused to continue the investigation. In the remaining 11 relatives celiac disease was diagnosed in 7 cases (2.6%, 5 mothers, 2 fathers) who had a median age of 39 years (27-56 years), mild gastrointestinal symptoms, high titre of IgA-TTG and histology abnormalities confirming the diagnosis. All these patients are currently on a gluten-free diet. CONCLUSION: The prevalence of celiac disease among first degree relatives (2.6%) was 5 times higher than that in the general population. Although the recommendations for screening asymptomatic high risk groups, such as first degree relatives, are not unanimous the early diagnosis is crucial in preventing complications, including nutritional deficiency and cancer.

Celiac disease in first degree relatives of celiac children / Doença celíaca nos familiares em primeiro grau de crianças celíacas

CONTEXT - The first degree relatives of celiac patients represent a high risk group for the development of this disorder, so their screening may be crucial in the prevention of long-term complications. OBJECTIVE - In order to determine the prevalence of celiac disease in a group of first degree relatives of children with proven gluten intolerance, we conducted a prospective study that consisted in the screening of celiac disease, using a capillary immunoassay rapid test that allows a qualitative detection of IgA antibody to human recombinant tissue transglutaminase (IgA-TTG). METHODS - When the screening test was positive subjects were advised to proceed with further investigation. The screening test was performed in 268 first degree relatives (143 mothers, 89 fathers, 36 siblings) corresponding to 163 children with celiac disease. RESULTS - Screening test was positive in 12 relatives (4.5%), of which 1 refused to continue the investigation. In the remaining 11 relatives celiac disease was diagnosed in 7 cases (2.6%, 5 mothers, 2 fathers) who had a median age of 39 years (27-56 years), mild gastrointestinal symptoms, high titre of IgA-TTG and histology abnormalities confirming the diagnosis. All these patients are currently on a gluten-free diet. CONCLUSION - The prevalence of celiac disease among first degree relatives (2.6%) was 5 times higher than that in the general population. Although the recommendations for screening asymptomatic high risk groups, such as first degree relatives, are not unanimous the early diagnosis is crucial in preventing complications, including nutritional deficiency and cancer.

CONTEXTO - Os familiares em primeiro grau de doentes celíacos pertencem a um grupo de alto risco para desenvolver esta patologia, pelo que o seu rastreio poderá ser determinante na prevenção de complicações a longo prazo. OBJETIVO - No sentido de determinar a prevalência da doença celíaca num grupo de familiares em primeiro grau de crianças celíacas, foi realizado um estudo prospectivo que consistiu no rastreio da doença celíaca através de um teste rápido capilar imunocromatográfico para a detecção qualitativa de anticorpos IgA antitransglutaminase (IgA-TTG). RESULTADOS - Nos casos em que este teste de rastreio foi positivo, os familiares foram aconselhados a prosseguir com investigação adicional. Realizou-se o rastreio a 268 familiares em primeiro grau (143 mães, 89 pais, 36 irmãos) correspondentes a 163 crianças com doença celíaca. O teste de rastreio foi positivo em 12 familiares (4,5%), um dos quais recusou prosseguir a investigação. Entre os restantes 11 familiares com teste positivo, diagnosticou-se doença celíaca em sete casos (2,6%, 5 mães, 2 pais), apresentando idade mediana de 39 anos (27-56), sintomas digestivos associados a título elevado de IgA-TTG e alterações histológicas diagnósticas. Todos os familiares diagnosticados estão sob dieta isenta de glúten. CONCLUSÕES - A prevalência da doença celíaca nos familiares em primeiro grau (2,6%) foi 5 vezes superior à verificada na população em geral. Embora as recomendações para o rastreio de indivíduos assintomáticos dos grupos de alto risco, como os familiares em primeiro grau, não sejam unânimes, o diagnóstico é importante para a prevenção das complicações, nomeadamente os defícits nutricionais e neoplasia.