Screening for celiac disease in 1st degree relatives: a 10-year follow-up study

Abstract

BackgroundAlthough it is known that first degree relatives of celiac patients have an increased risk for celiac disease few studies are available on its incidence. We investigated the incidence of serologic conversion and of new cases of celiac disease among first degree relatives with negative results at a first screening.MethodsFrom a total of 634 first degree relatives of 186 biopsy-proven celiac disease patients diagnosed between October 2000 and October 2010, 450 subjects agreed to participate in the study (Group I), and underwent serologic screening. Between January 2010 and October 2012, out of the initial group of 450, 205 previously sero-negative subjects consented to participate in a second stage of the study and undergo new serologic testing (Group II). All serologically positive individuals of both groups (I and II) were genotyped for celiac disease-predisposing alleles (HLA-DQ2/DQ8).Results19 subjects (4.2%) out of the 450 subjects of Group I disclosed positive serologic results, presence of DQ2 and/or DQ8 alleles and celiac disease-compatible mucosal abnormalities. The 205 previously negative first degree relatives from Group II that underwent new serologic testing disclosed eight sero-converted subjects. Mucosal abnormalities in five of these patients confirmed the diagnosis of celiac disease. During the 10-year period of the study the incidence of sero-conversion was 8/205 and the incidence of biopsy-proven celiac disease cases was 5/205.ConclusionsOur data are coincident with other works on this subject and confirm once again that relatives of celiac patients, especially first degree relatives are at high risk of developing celiac disease. In view of the relatively low incidence further studies are needed to try to establish a useful and cost-effective algorithm for follow-up of relatives of celiac patients.

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

“…Forty-eight studies were included in this part of analysis as they reported serological prevalence among FDRs with one index case of CD ( 9,(11)(12)(13)(14)(30)(31)(32)(33)(34)(35)(36)39,(41)(42)(43)(44)(45)(46)(47)(48)(49)(50)(52)(53)(54)(55)(56)(57)(58)(59)(60)(63)(64)(65)(66)(67)(68)(69)(70)(71)(72)(73)(74)(75)(76)(77)(78). Overall, of 14,225 FDRs screened using AEA and/or anti-tTG Ab, 1,016 FDRs were seropositive ( 9,(11)…”

“…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).…”

Rheumatoid arthritis–celiac disease relationship: Joints get that gut feeling

“…Finally, family histories of RA [36,37] and CD [38,39] and their corre- The presence of anti-citrullinated protein antibody is a standard test 233 for rheumatoid arthritis, and it is associated with more severe disease. tion in animal studies [80][81][82][83][84].…”

Preventing complications in celiac disease: Our experience with managing adult celiac disease

“…May be, this selection of patients in the family already had (albeit minor) complaints. A large multi-center study from the USA showed a rate of only 5% in both first and second degree relatives [17,18]. We suggest that 4e5% reflects appropriately the true rate in daily practice.…”