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PubMed1997

[Prevalence of monosymptomatic celiac disease in patients with iron deficiency anemia].

A prospective study of the prevalence of monosymptomatic celiac disease presented as ferropenic anemia in patients admitted for study such complication of was carried out. All the patients were evaluated by gastroscopy and biopsy of the distal duodenal segment, regardless of endoscopic appearance. Patients presenting an endoscopic lesion clearly suggestive as the origin of the chronic bleeding were excluded from the study. The prevalence of celiac disease, the only manifestation of which was ferropenic anemia, was 3.3% in this series. What is important to note in this study is the importance of duodenal biopsy in the study of ferropenic anemia, with the aim of avoiding diagnostic delay of a possible monosymptomatic celiac disease as the cause of the anemia.

Adult↗
PubMed1995

Down syndrome and celiac disease.

Down syndrome is associated with immune-related disorders such as hypothyroidism, insulin-dependent diabetes mellitus, and celiac disease. In this study we determined antigliadin antibodies (AGA) in 54 patients with Down syndrome; 22 had AGA values above the cutoff limit. Nineteen patients underwent intestinal biopsy, and total or subtotal villous atrophy was found in nine. There was a total of 65 patients with Down syndrome in our area of southern Sweden; two were already known to have celiac disease. The minimum prevalence of celiac disease in Down syndrome in this area in southern Sweden was 11 of 65 or 16.9%.

Adolescent↗
PubMed2004

Comparison of different salivary and fecal antibodies for the diagnosis of celiac disease.

To investigate the detectability and expressiveness of salivary and fecal anti-gliadin (AGA), anti-endomysium (EMA) and anti-tissue-transglutaminase (ATA) antibodies, 127 salivary and 160 fecal samples of healthy volunteers and salivary and fecal samples of 17 patients with histologically proven and 9 patients with suggested celiac disease were investigated in this study. With all salivary parameters and fecal IgA AGA, IgM AGA, IgA EMA and IgG EMA, healthy volunteers and patients showed partially overlapping results. The most promising results in our study with higher concentrations in patients with celiac disease were obtained by fecal scIgA AGA and a combined determination of fecal IgA AGA, IgG AGA and IgM AGA. Further investigations should be performed with fecal IgA EMA and scIgA ATA based on human recombinant tissue-transglutaminase. One patient with histologically proven celiac disease had normal serological but high fecal scIgA AGA and scIgA ATA values. This patient emphasizes the importance of fecal antibody determination for the diagnosis of celiac disease, at least in patients with suggested celiac disease and negative serum antibodies.

Adolescent↗
PubMed2003

Screening for asymptomatic celiac disease among patients referred for bone densitometry measurement.

Celiac disease (CD) is a relatively common gastrointestinal disorder that can be asymptomatic. An increased prevalence of subclinical CD has been reported in many populations. Even among asymptomatic patients a reduction in bone mineral density (BMD) has been observed. The aim of this study was to evaluate the prevalence of silent CD in a cohort of consecutive individuals referred for bone densitometry measurement. Serum samples were taken from 454 women attending for bone densitometry (mean age: 56 +/- 11 years). Of the individuals evaluated, 89 had normal BMD and 365 had low BMD (T score < -1.0). Subjects were screened for the presence of serum IgA anti-endomysial antibodies (EMA) and IgA tissue transglutaminase (tTG) antibodies by indirect immunofluorescence and enzyme-linked immunosorbent assay (ELISA), respectively. BMD was measured by dual X-ray absorptiometry (DEXA) at the lumbar spine and femoral neck. Eight EMA tTG-positive individuals were identified in this population (1.8% or 1:57). Serologically positive women had a lower mean Z score at both the lumbar spine and femoral neck than EMA tTG-negative women. But this did not approach significance. There was no significant difference in the incidence of CD between the normal- and low-BMD groups in this dataset (P = 0.365). In conclusion, our study indicates that the prevalence of CD in our dataset is high. However, the frequency of asymptomatic CD among low-BMD individuals is similar to that among normal-BMD individuals in our population. These observations do not support the hypothesis that serological testing for CD may be a good accompaniment to DEXA scanning.

Absorptiometry, Photon↗
PubMed1991

[Celiac disease. Is its clinical pattern changing?].

Celiac disease (CD) is one of the most malabsorption syndromes in Pediatrics, its diagnosis being based on peroral intestinal biopsy. During the period 1974-1988 we have studied 178 patients with the suspected diagnosis of CD: diagnosis was confirmed in 117 whereas 22 are still under study. Mean age of the patients was 22.5 +/- 22.7 months, diagnosis being made during the first year of life in 32.6% of cases. Most cases had a classic clinical onset, although over the last year symptoms seen to be less apparent. Several patients presented with atypical forms. Also, associated diseases are observed in several cases. CD is often presented nowadays with few or atypical symptoms of difficult diagnosis and in this context the use of immunologic markers may be specially helpful.

Celiac Disease↗
PubMed1994

Chromosome instability in lymphocytes from patients with celiac disease.

Cytogenetic studies were performed in celiac disease (CD) patients to determine if the presence of chromosome instability is related to the predisposition to cancer. Chromosome aberrations (CA) and sister chromatid exchange (SCE) frequencies in peripheral blood lymphocyte cultures from untreated CD patients and healthy controls were analyzed. Patients showed aberrations in 23% of cells, while only 3% were detected in the control group (p < 0.0001). The mean frequencies of gaps, breaks and total CA were found to be higher in CD patients compared to controls (p < 0.0001). Breakpoint distribution was nonrandom among chromosomes from celiac patients (p = 0.01), but not among controls (p = 0.04). The frequency of SCE/cell showed a mean value of 6.9 +/- 0.6 in CD patients and 7.3 +/- 0.2 in controls. No statistical differences were found. Breakpoints involved in CD patients presented a strong coincidence with the location of fragile sites (78.6%) and sites of cancer chromosome rearrangements (57.1%), most of them (75%) associated with malignant non-Hodgkin lymphomas. These results suggest that CD is a condition with increased chromosome instability characterized by a high level of CA and normal SCE frequencies, probably related to the increased incidence of cancer.

Adolescent↗
PubMed2000

Celiac disease.

Increased awareness of the high prevalence of celiac disease and the degree of underdiagnosis has led to calls for routine screening in certain groups. The potential consequences of underdiagnosis have been the subject of several studies. Where there is a delay in diagnosis, there may be an increased risk of associated autoimmune diseases. Alternatively, there may be marked neurological complications, or fetal growth retardation where pregnancy preceeds diagnosis. Once a diagnosis is obtained, treatment may become easier with further evidence that oats are well tolerated by most people with celiac disease. Screening will be facilitated by the development of highly sensitive and specific enzyme-linked immunosorbent assays for tissue transglutaminase. Further insights into the genetics of the condition have been gained with the discovery of a new human leukocyte antigen susceptibility type, plus a possible non-human-leukocyte antigen susceptibility gene.

Journal Article↗
PubMed2001

Antiendomysial antibody test reliability in children with frequent diarrhea and malnutrition: is it celiac disease?

BACKGROUND: The aim of this study was to evaluate the specificity of the immunoglobulin A (IgA) antiendomysial antibody test in the diagnosis of celiac disease in a group of malnourished children with acute diarrhea, chronic diarrhea, or parasitosis, because the reliability of this test has been questioned when applied to this specific group of patients. METHODS: Serum IgA level, IgA antiendomysial antibody (EMA) test, and stool examination were performed in 315 children, ranging in age 6 months to 13 years (range, 41 +/- 2.9 months), affected by malnutrition, isolated or in association with diarrhea or parasitosis. Independent of results, 33 children with a strong suspicion of celiac disease, also underwent IgA antitransglutaminase antibody test and jejunal biopsy. RESULTS: The EMA test was negative in 313 children, including the 43 with parasitosis, being positive in two patients in whom biopsy disclosed typical celiac mucosal abnormalities (1:157). The 31 children with negative EMA test who underwent biopsy also showed negative antitransglutaminase antibody results. Their biopsies disclosed normal mucosa in 1 patient, variable degree of jejunal atrophy (grade 1 and 2) in 27 patients, and grade 3 abnormalities in 3 patients. One of these three children, showing severe jejunal atrophy, died. The diagnosis of celiac disease was apparently not confirmed by a protracted gluten challenge in the other two children. CONCLUSIONS: The specificity of the EMA test seems to be high also in children with chronic malnutrition and diarrhea. However, the possibility of false-negative tests among immunologically compromised children cannot be excluded. In doubtful cases, the gluten challenge is required in malnourished children with clinical picture, biopsy finding, and evolution suggestive of celiac disease.

Adolescent↗
PubMed1992

Short stature as the primary manifestation of monosymptomatic celiac disease.

It is generally accepted that celiac disease (CD) must always be taken into consideration when dealing with children manifesting growth failure. It is therefore important to have laboratory tests capable of detecting patients who should undergo intestinal biopsy. Auxological and endocrine parameters, bone age, some nutritional indices (hemoglobin, serum iron, calcium, total protein, and albumin), and anti-gliadin antibodies (AGA) IgA and IgG and 1-h blood xylose levels were evaluated in 49 children of short stature. On the basis of the intestinal biopsy, 29 (59.1%) patients affected by CD were found. When patients with atrophic and normal intestinal mucosa were compared, significant differences in the frequency of pathological values of hemoglobinemia, serum iron, AGA, and 1-h blood xylose levels were found, whereas no difference was observed in the levels of serum calcium, total protein, and albumin. Bone age was delayed in 81% of the celiac patients and in 47% of the controls. In particular, AGAs were found in 27 of 29 celiac patients and in three control subjects who showed a low level of one of the two antibodies. The results of our study demonstrate that AGA (IgA and IgG), together with 1-h blood xylose, hemoglobinemia, serum iron, and family history of CD determination, are extremely useful for screening patients of short stature. This type of screening cannot, however, replace the intestinal biopsy because such tests cannot be completely sensitive and specific.

Body Constitution↗
PubMed1992

[Celiac disease and short stature in children].

Celiac disease (CD) is a known cause of short stature and sometimes, this is its only symptom. The aim of this work was to determine the incidence of CD in children with short stature. We studied 178 infants with short stature and with no gastrointestinal symptoms. Serum IgA antigliadin antibodies were determined in all of them. We found a pathological titer in ten of these patients. Peroral intestinal biopsy was performed on these children, with nine showing no alterations and only one having subtotal villus atrophy that was compatible with CD. Therefore, the incidence of CD in this population is about 0.56%, which is much lower than the incidence shown by other authors.

Adolescent↗
PubMed1995

A comparison of diets with and without oats in adults with celiac disease.

BACKGROUND: Wheat, rye, and barley damage the small-intestinal mucosa of patients with celiac disease; maize and rice are harmless. The effects of a diet containing oats are uncertain. METHODS: In a randomized trial, we compared the effects of gluten-free diets without oats and with oats (with a goal of 50 to 70 g per day from three sources: two types of wheat-starch flour mixed with an equal amount of oats, muesli containing 60 percent oats, and rolled-oat breakfast cereal). Fifty-two adults with celiac disease in remission were followed for 6 months and 40 with newly diagnosed disease for 12 months. Endoscopy with duodenal biopsy was performed at the beginning and end of the study. RESULTS: The mean (+/- SD) oat intake in the oat group was 49.9 +/- 14.7 g per day at 6 months for patients in remission and 46.6 +/- 13.3 g per day at 12 months for patients with newly diagnosed disease. The oat and control groups did not differ significantly in nutritional status, symptoms, or laboratory measures. Patients in remission, regardless of diet, did not have worsening architecture of the duodenal villi or increased mononuclear-cell infiltration. All the patients with new diagnoses were in remission at one year, except for one in the control group. Six patients in the oat groups and five in the control group withdrew from the study. CONCLUSIONS: Moderate amounts of oats can be included in a gluten-free diet for most adult patients with celiac disease without adverse effects.

Adult↗
PubMed1999

Celiac disease: clinical features and diagnostic criteria.

Celiac disease (CD) classically presents between 9-18 months of age but in India there is a significant delay in the onset of symptoms (3-4 years) and the age of presentation (6.8-9.2 years). Failure to thrive, anemia, and muscle wasting are more common in children. Symptomatic CD represents the tip of the iceberg. Clinically there may be overt, silent, latent and potential CD. Modified ESPGAN criteria for diagnosis of CD is based on demonstration of characteristic histological changes in small intestinal biopsy while on gluten, and unequivocal clinical improvement when on gluten free diet. However, in developing countries there are several conditions which can give rise to villous atrophy and using it as a diagnostic criteria may lead to overdiagnosis of CD. IgA antigliadin antibody has a high sensitivity (98%) and specificity (90%) for CD and hence, may be an ideal adjunct to modified ESPGAN criteria in the diagnosis of CD in India.

Age Distribution↗
PubMed2005

Comparison of six human anti-transglutaminase ELISA-tests in the diagnosis of celiac disease in the Saharawi population.

AIM: Celiac disease (CD) is an enteropathic disorder very prevalent in Saharawi people. Our aim was to investigate the diagnostic accuracy of six human tissue transglutaminase (tTG) based ELISA tests in Saharawi CD patients. METHODS: Fifty-two CD patients and 23 controls were selected from the Saharawi refugee camps in Tinduf. CD patients were divided into two groups according to their anti-endomysium (EmA) status: 41 EmA positive and 11 EmA negative. Sera from patients and controls were tested for human tTG using six commercial ELISA kits. We used receiver operating characteristics (ROC) curves and areas under the curve to compare the diagnostic accuracies of the six assays. RESULTS: In general, there are differences in the sensitivity and specificity of the human tTG ELISA assays used. Diagnostic accuracy of tests was significantly improved by adjusting the cut-off thresholds according to ROC plot analysis; the correction of the cut-off with the employment of the ROC curve analysis modifies the decision limit in more than 50% in five of the six kits evaluated. CONCLUSION: Some of the human tTG ELISAs used in this study have a diagnostic accuracy similar to EmA determination for diagnosis of CD in Saharawi people. However, it is necessary to select the assay with a higher sensitivity and specificity, and recalculate the cut-off threshold using samples from the referral population.

Adolescent↗
PubMed2004

Screening of tissue transglutaminase antibody in healthy blood donors for celiac disease screening in the Turkish population.

Celiac disease (CD) is a disease having the characteristic pathology of the mucosa of the small intestine. The prevalence of CD in the Turkish population has not been investigated previously. The present study was designed to determine the prevalence of CD in healthy blood donors. Serum samples of 2000 healthy blood donors presenting to Hacettepe University Faculty of Medicine Hospital Blood Bank were tested for tissue transglutaminase (tTG) IgA and IgG antibodies with enzyme-linked immunosorbent assay (ELISA; Euroimmune, Germany). The histopathological findings for the cases with positive serology were evaluated. The distribution of sex was 95.7% male, and 4.3% female. The mean age was 33 +/- 9. Among 2000 donors, 23 (1.15%) were positive for tTG IgA antibody and 3 (0.15%) were positive for tTG IgG antibody. None of the samples was positive for both antibodies. Serum total IgA was measured in two cases with only tTG IgG positivity and was found to be low in one case. Twelve subjects positive for tTG agreed to endoscopy and biopsy. Histopathological examination revealed changes classified as Marsh III-II in one, Marsh II in two, Marsh I in seven, and Marsh 0 in two donors. This was the first study conducted to determine the prevalence of tTG positivity in the Turkish population. The tTG antibody positivity prevalence in healthy blood donors was as high as 1.3%. This study shows that the prevalence of CD in the Turkish population is relatively high in comparison to that in the Western world.

Adolescent↗
PubMed2026

Linkage between HLA-B8 and HLA-DQ2.5 Contributes to Ancestry-Dependent Genetic Risk for Celiac Disease.

BACKGROUND: Most genetic studies on celiac disease (CeD) have focused on individuals of European descent. Limited data are available for the Hispanic and black populations. METHODS: We analyzed whole-genome sequencing data, electronic health records (EHR), and laboratory results from the All of Us Research Program. We identified 3,481 individuals with CeD through EHR, self-reporting, or both. Of these, 2,899 carried one of the four well-established risk haplotypes, including 262 of admixed American (89% Hispanic) and 108 of African (70% black) ancestry. Five sex-, age-, and ancestry-matched controls per case were selected for the assessment of genetic and clinical risk factors. RESULTS: An enrichment in the DQB1*02:01 allele was observed in CeD patients across all ancestries, with the strongest association in Europeans (32.3% vs. 11.6%), followed by Americans (18.5% vs. 8.1%) and Africans (15.7% vs. 8.1%). Among individuals carrying the DQ2.5 (DQA1*05:01-DQB1*02:01 haplotype), HLA-B8 was present in 72.3% of Europeans, 42.3% of Admixed Americans, and lower in Africans. This linkage disequilibrium was higher in CeD patients than in controls across all three ancestries. A polygenic risk score distinguished seropositive CeD from controls with 86% accuracy. Incorporating clinical risk factors, including family history, hypothyroidism, diarrhea, vitamin D deficiency, and anemia, increased predictive accuracy to 92%. The model identified 93% of CeD patients with tTG-IgA levels greater than 10 IU/mL. CONCLUSION: Linkage between HLA-B8 and DQ2.5 differs significantly among individuals of European, admixed American, and African ancestry, contributing to ancestry-dependent genetic risk for CeD.

Celiac disease↗
PubMed2006

MHC class I chain-related gene B promoter polymorphisms and celiac disease.

The possibility that susceptibility to celiac disease (CD) might be influenced by the MHC class I chain-related gene family, MICA and MICB, has been previously reported. In this study, we analyzed the MICB promoter and examined the association of the polymorphisms found within such in a group of CD patients. To study the MICB promoter we sequenced the 5' flanking region of MICB gene in DNA from homozygous B-lymphoblastoid cell lines corresponding to the most frequent MICB alleles found in our population (MICB*00502, MICB*002, MICB*004, and MICB*008). DNA from a MICB*003 homozygous individual was also analyzed. Sequence analysis revealed six single nucleotide polymorphisms located at positions 45860 C/A, 45862 G/C, 45877 C/G, 46113 A/C, 46219 G/C, and 46286 G/C and an insertion of 2 bp --/AG at position 45944 according to the published genomic sequence. Those polymorphisms were found to be associated in four different haplotypes corresponding to different MICB alleles. Subsequently, 126 CD subjects and 117 healthy controls were typed by polymerase chain reaction using sequence-specific primers for these polymorphisms. MICB promoter polymorphism haplotypes were also found in our population and showed strong linkage disequilibrium with MICB alleles. MICB promoter polymorphism Haplotype 3, included in MICB*002 and MICB*008 alleles, was found to be overrepresented in CD patients (79.4% CD patients vs 45.3% healthy controls; p(c) < 0.0001; OR = 4.64; CI 95% = 2.64-8.16). Both MICB*008 and MICB*002 alleles were found as part of the CD susceptibility extended haplotypes B8/DR3/DQ2, B18/DR3/DQ2, and DR4/DQ8.

Adult↗
PubMedDate not supplied

Cost-effectiveness analysis of screening for celiac disease in the adult population.

BACKGROUND: Celiac disease (CD) is common and, when undiagnosed, may result in increased mortality, suggesting that mass screening could be justified. The authors examined the cost-effectiveness (CE) of such an approach, assuming a higher mortality rate in undiagnosed CD and that adhering to a gluten-free diet (GFD) reduces the mortality rate. METHODS: The authors developed a state transition Markov model, evaluating the CE of screening an entire population at the age of 18. Screening strategies included no screening v. screening by IgA antiendomysial antibodies (EMA), IgA human antitissue transglutaminase antibodies (TTG), and TTG verified by EMA. All strategies were examined with and without evaluation for IgA deficiency, and they all included an intestinal biopsy. Effects of variables were examined using sensitivity analysis. Effectiveness was assessed by life expectancy for each strategy and the incremental average CE ratio for each. RESULTS: Base-case analysis revealed US$49,491 and US$572,616 per life year gained for screening compared to no screening using EMA or TTG, respectively. The CE of screening with EMA was most influenced by the prevalence of CD and the standardized mortality ratio (SMR) for untreated CD patients. Screening was cost-effective in populations with a relatively high prevalence of CD or when the SMR for untreated CD patients was higher than 1.5. The model was insensitive to changes in the cost of serological markers and diagnostic endoscopy. CONCLUSION: Assuming an SMR of 1.5 or higher for untreated CD patients, mass screening for CD is cost-effective in populations with a relatively high prevalence of CD over a wide range of ages at screening. From a CE perspective, EMA is the preferred serological marker for mass screening. Screening for CD would be justified only if the uncertainties regarding the validity of our assumptions are substantiated.

Adolescent↗
PubMed2001

New automated immunoassay measuring immunoglobulin A antigliadin antibodies for prediction of celiac disease in childhood.

The prevalence of celiac disease (CD) in Sweden is about 4 cases per 1,000 people. Screening for CD with serological tests indicates similar high prevalences in many other countries. Between 1 November 1992 and 30 April 1995, 133 children (9 months to 16.7 years of age) with suspected CD were studied. The predictive value (PV) of immunoglobulin A antigliadin antibodies (IgA-AGA) in the serum as assayed with two new commercial automated immunoassays--the Pharmacia CAP System Gliadin IgA FEIA (CAP) and the UNICAP-100 (UNICAP)--and with three "in-house" methods was evaluated using assessment of the small intestinal mucosa morphology as the "gold standard." All serum samples were analyzed for total serum IgA. At presentation the diagnostic sensitivities and specificities of the different tests varied from 0.72 to 0.88 and 0.67 to 0.87, respectively. All methods showed a higher sensitivity for CD in younger children. The area under each assay's receiver operating characteristic curve was calculated and varied between 0.82 and 0.89. The positive and negative PVs for the CAP and UNICAP, which were assays with a high sensitivity and a high specificity, respectively, were estimated. In the clinically selected population (prevalence of CD, 1 in 3) the positive PV was about 55%, and in the general population (prevalence, 1 in 250) it was about 1%. The negative PVs for both CAP and UNICAP were close to 100%; thus, when the AGA test was negative, the risk for CD was small. Interestingly, five children had serum IgA levels below the detection limit (<0.07 g/liter) when on a gluten-free diet, whereas they had normal levels at the time of the first biopsy. In conclusion, the automated immunoassays--based on ImmunoCAP technology--for analysis of IgA-AGA had a reliability comparable to that of the in-house methods.

Adolescent↗