ABSTRACT
Background: Active search of celiac disease (CD) among risk groups has significantly increased the scope of known clinical variants. Aim: To measure the frequency and clinical characteristics of CD among first degree relatives (FDR) of known celiac cases. Material and Methods: Between January 2012-August 2013, 37 patients with celiac disease brought 113 FDR for assessment. Their clinical data was recorded and a blood sample was obtained to measure serum Immunoglobulin A (IgA) levels, anti-transglutaminase (tTG) and anti-endomisial (EMA) antibodies. Cases with positive serology were advised to have an intestinal biopsy. Results: Fourteen relatives (12.4%) had positive serological results and none had IgA deficiency. Among IgA-tTG (-) cases, measurement of IgA/IgG-tTG identified an additional case. Two of the 14 relatives were EMA positive. All 14 cases were advised to have an intestinal biopsy, but only 6 accepted the procedure. In two, the intestinal lesion was classified Marsh ≥ 2 and active CD was diagnosed. Histology in the remaining four was Marsh 0/1 and were diagnosed potential CD, remaining under control, without gluten free diet. Conclusions: Serological prevalence of CD among first degree relatives of known celiac cases was 15 fold greater than in THE general Chilean population, strongly supporting the idea of implementing active search to customary clinical practice. Determination of IgA/IgG-tTG may be useful to improve the yield of active search. Intestinal biopsies were crucial to differentiate active classic CD from potential CD.
Subject(s)
Humans , Accidental Falls , Fractures, Bone , Osteoporosis , SarcopeniaABSTRACT
Knowledge about celiac disease continues to grow and amaze those who investigate, seek and treat this condition. Gone are the days when it was considered just a rare child's digestive disease. It is now recognized as a highly prevalent autoimmune condition that affects children and adults with digestive and extra-digestive symptoms of diverse intensity, disorder that may be either mono, oligo or asymptomatic from a digestive point of view. Today, it is an underdiagnosed condition, not actively considered, and often mistakes are made regarding its diagnosis, treatment and gluten-free diet monitoring. This article reviews the current definition of the disease, clinical presentations, potential patients, how to search for the disease, how the diagnosis is made and characteristics of the treatment and monitoring of celiac patients, all based on internationally agreed standards, and emphasizing those aspects that have proven to be useful in other countries regarding the management of the disease.
El conocimiento acerca de la enfermedad celíaca continúa creciendo y sorprendiendo a aquellos que la investigan, la buscan y la tratan. Lejos están los tiempos en que se la consideraba una patología digestiva del niño, poco frecuente. Actualmente se la reconoce como una condición autoinmune altamente prevalente, que afecta a niños y adultos, con manifestaciones digestivas y extra digestivas de muy diversa intensidad, pudiendo ser mono, oligo o incluso asintomática desde el punto de vista digestivo. Hoy en día está sub-diagnosticada, no se la busca activamente, se incurren en errores tanto al diagnosticarla como en la indicación del tratamiento y seguimiento de la dieta sin gluten. En este artículo revisamos la definición actual de la enfermedad, las presentaciones clínicas que se le conocen, en quiénes y cómo se debe buscar, como se hace el diagnóstico, y en qué consiste el tratamiento y seguimiento del paciente celíaco, basándonos en los criterios internacionales actualmente consensuados, y poniendo énfasis en aquellos aspectos que han demostrado ser útiles en otros países para mejorar el manejo de la enfermedad.