Atypical Celiac Disease: From Recognizing to Managing

Abstract

The nonclassic clinical presentation of celiac disease (CD) becomes increasingly common in physician's daily practice, which requires an awareness of its many clinical faces with atypical, silent, and latent forms. Besides the common genetic background (HLA DQ2/DQ8) of the disease, other non-HLA genes are now notably reported with a probable association to atypical forms. The availability of high-sensitive and specific serologic tests such as antitissue transglutuminase, antiendomysium, and more recent antideamidated, gliadin peptide antibodies permits to efficiently uncover a large portion of the submerged CD iceberg, including individuals having conditions associated with a high risk of developing CD (type 1 diabetes, autoimmune diseases, Down syndrome, family history of CD, etc.), biologic abnormalities (iron deficiency anemia, abnormal transaminase levels, etc.), and extraintestinal symptoms (short stature, neuropsychiatric disorders, alopecia, dental enamel hypoplasia, recurrent aphtous stomatitis, etc.). Despite the therapeutic alternatives currently in developing, the strict adherence to a GFD remains the only effective and safe therapy for CD.

Enfermedad celíaca. Una mirada actual

“…La frecuencia de la enfermedad propiamente tal se estima actualmente en ~0,5% de la población chilena, en contraste a la prevalecía de 1:1.800 que se conocía anteriormente en base a los casos diagnosticados a propósito de su consulta al especialista 17 . Esta práctica de buscar activamente a los pacientes, sin esperar a que consulten, ha tenido dos consecuencias interesantes: los familiares de primer grado de celíacos, diagnosticados por búsqueda activa, representan alrededor de 10-15% de los casos actualmente diagnosticados; por otra parte, la proporción de casos diagnosticados ha aumentado considerablemente entre los adultos, con una disminución relativa de casos cuya sintomatología principal es diarrea durante la edad pediátrica 18,19 .…”

Prevalence and management of coeliac disease in people with Down’s syndrome

“…Research has found an increased incidence of coeliac disease in those with Wilson's disease, diabetes (Admou et al, 2012), hypothyroidism, Williams syndrome (4%; Mihci et al, 2015), Turners syndrome (4%; Dias Mdo et al, 2010) and Down's syndrome (Henderson et al, 2007).…”

“…Trends across studies from a range of countries have pointed to a consensus of around 6% of individuals with Down's syndrome who have coeliac disease (Szaflarska-Popławskaet al, 2016;Nisihara et al, 2005;Roizen et al, 2014;Goldacre et al, 2004;Nisihara et al, 2005). This may prove to be a conservative estimate given the known underrepresentation due to atypical and latent coeliac disease (Admou et al, 2012) and diagnostic over shadowing within people who have cognitive impairments.…”

“…Genetic links between Down's syndrome and susceptibility to coeliac disease have been suggested in the literature in relation to the human leukocyte antigens specifically the haplotypes HLA-DQ2 and HLA-DQ8 (Admou et al, 2012;Radlovic, 2013). These antigens aid the immune system by distinguishing between the body's own proteins and proteins that are made by foreign bodies, in coeliac disease the antigens interpret gluten proteins as foreign and send out messages to attack these proteins with surrounding tissues getting caught in the crossfire.…”

“…A gluten free diet has been reported to reduce the increased risk of carcinoma and lymphoma of untreated coeliac disease as well as potential complications such as osteoporosis and autoimmune disease (Admou et al, 2012).…”