Celiac Disease in Children From Madeira Island and Its Prevalence in First Degree Relatives

Abstract

ContextIt is well recognized that celiac disease is an immune-mediated systemic disorder highly prevalent among relatives of celiac patients.ObjectivesThe aim of this study is to determine the prevalence of celiac disease in a group of first degree relatives of celiac children, and to access the frequency of human leukocyte antigen HLA-DQ2 and DQ8 in celiac disease patients and their affected relatives.MethodsA survey was conducted of 39 children with celiac disease with follow-up in the Pediatric outpatient’s clinic of Dr. Nélio Mendonça Hospital, in Madeira Island, Portugal. Were invited 110 first degree relatives to undergo serological screen for celiac disease with IgA antibody to human recombinant tissue transglutaminase (IgA-TGG) quantification. In all seropositive relatives, small intestinal biopsy and HLA typing was recommended.ResultsHLA- typing was performed in 38 celiac patients, 28/74% DQ2 positive, 1/2% DQ8 positive and 9/24% incomplete DQ2. Positive IgA-TGG was found in five out of the 95 relatives, and CD was diagnosed in three of them. Three relatives had the presence of HLA-DQ2, two were DQ2 incomplete (DQB1*02).ConclusionsThe prevalence of celiac disease among first degree celiac patients´ relatives was 3.1%, 4.5 times higher than the general Portuguese population (0,7%) witch reinforces the need of extensive diagnostic screening in this specific group. HLA-DQ2 typing may be a tool in the diagnostic approach.

Risk of Celiac Disease in the First- and Second-Degree Relatives of Patients With Celiac Disease: A Systematic Review and Meta-Analysis

“…Forty-one studies meeting the inclusion criteria were included in this part of meta-analysis ( 9,(11)(12)(13)(14)(74)(75)(76)(77)(78) ( Table 1 ). Forty-one studies meeting the inclusion criteria were included in this part of metaanalysis.…”

“…In studies by Kurppa et al ( 37 ) and Aschler et al ( 51 ), the number of seropositive patients biopsied was not reported and combining data from these 2 studies, 107 individuals of 2,507 FDRs screened also had positive serology and histology compatible with CD. From these 39 studies, 602 FDRs were diagnosed with CD based on positive serology (either anti-tTG Ab and/or AEA) and villous abnormalities ≥modifi ed Marsh grade 2 ( Table 2 ) ( 9,(11)(12)(13)(14)(30)(31)(32)(33)(34)(35)(36)(37)39,(41)(42)(43)(44)(45)(46)(47)(48)(49)(50)(51)(52)(53)(54)(55)(56)(57)(58)(59)(60)(74)(75)(76)(77)(78).…”

“…Of the 41 studies, 24 studies further mentioned prevalence of CD according to the relationship of FDRs with the index patient with CD ( 9,(12)(13)(14)(32)(33)(34)36,37,41,42,44,46,47,49,50,(52)(53)(54)(55)57,59,60,76 ). Of 2,780 siblings in these studies, 254 had CD, therefore pooled prevalence of CD in siblings was 8.9% (95% CI 6.6, 11.2%).…”

“…Heterogeneity in these subgroups was reduced to 39.8% among parents, 66.7% among off springs, and 71.2% among siblings. Almeida (2008) Cataldo (2003) Uenishi (2014) Bonamico (1996) Kocksis (2013) Maki (1991) Chomeili (2011) Kolek (2001) Dolinsek (2004) Oliveira (2012) Srivastava (2010) Dogan (2012) Bardella (2007) Gautam (2006) Rostami (1999) Piccini (2012) Goel (2007) Petaros (2002) Dezi ( daughter, and son ( 9,(12)(13)(14)(32)(33)(34)36,37,41,42,44,46,47,49,50,(52)(53)(54)(55)57,59,60,76 ). Th e pooled prevalence of CD in each of the FDRs with specifi c relationships to the index patient is summarized in Table 3 .…”

Celiac Disease and Gluten-free Diet in Portuguese Children – An Anthropometric Marker Contribution Assessment

“…In Europe it occurs in approximately 1.0% of the population [4,5,6] with incidence in Finland and Sweden as high as 2.0% to 3.0% [7] and in Portugal mainland about 0.7% [8,9]. However, only 0.07% were found for under 18 in Madeira Island [10]. Yet, those Portuguese values can be higher due to atypical and asymptomatic forms that are underdiagnosed and absence of more recent data, that include information on diagnosis based in heterogeneous clinical presentation of the disease.…”