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PubMed1988

Celiac disease associated with epilepsy and intracranial calcifications: report of two patients.

We describe two young adult patients with seizures and cerebral calcifications since childhood, diagnosed as Sturge Weber syndrome, who also had gluten enteropathy. Although the calcifications were located in regions similar to calcifications of Sturge Weber cases, many of the features of the syndrome were absent, and this diagnosis seems improbable. Whereas a coincidental involvement cannot be excluded, attention is drawn to this association between celiac disease and seizures with intracranial calcifications mimicking a Sturge Weber syndrome. After a gluten-free diet, antiepileptic therapy could be reduced in our patients.

Adolescent↗
PubMed2000

In vivo antigen challenge in celiac disease identifies a single transglutaminase-modified peptide as the dominant A-gliadin T-cell epitope.

Celiac disease (CD) is an increasingly diagnosed enteropathy (prevalence, 1:200-1:300) that is induced by dietary exposure to wheat gliadins (as well as related proteins in rye and barley) and is strongly associated with HLA-DQ2 (alpha1*0501, beta1*0201), which is present in over 90% of CD patients. Because a variety of gliadin peptides have been identified as epitopes for gliadin-specific T-cell clones and as bioactive sequences in feeding studies and in ex vivo CD intestinal biopsy challenge, it has been unclear whether a 'dominant' T-cell epitope is associated with CD. Here, we used fresh peripheral blood lymphocytes from individual subjects undergoing short-term antigen challenge and tissue transglutaminase-treated, overlapping synthetic peptides spanning A-gliadin to demonstrate a transient, disease-specific, DQ2-restricted, CD4 T-cell response to a single dominant epitope. Optimal gamma interferon release in an ELISPOT assay was elicited by a 17-amino-acid peptide corresponding to the partially deamidated peptide of A-gliadin amino acids 57-73 (Q65E). Consistent with earlier reports indicating that host tissue transglutaminase modification of gliadin enhances gliadin-specific CD T-cell responses, tissue transglutaminase specifically deamidated Q65 in the peptide of A-gliadin amino acids 56-75. Discovery of this dominant epitope may allow development of antigen-specific immunotherapy for CD.

Adult↗
PubMed2001

Celiac disease and short stature--not always cause and effect.

Four children with familial short stature were diagnosed with celiac disease (CD) by positive serology for antigliadin and antiendomysial antibodies and characteristic intestinal biopsy findings. These patients complied well with their diet as evidenced by their parents' reports, increase in weight standard deviation scores in all but one child, and reversion to seronegativity for antigliadin and antiendomysial antibodies in all four. However, typical catch-up for linear growth did not occur. In our view, the poor response of linear growth is evidence that the original stunting was not due to CD. Since the advent of sensitive tests for antiendomysial antibodies, many asymptomatic children have been diagnosed as having CD. Some of these children are short and despite a history of familial short stature their growth stunting may be wrongly attributed to CD. This report highlights this new problem and emphasizes the need for caution when predicting growth response to a gluten-free diet.

Autoantibodies↗
PubMed2001

[Diagnosis of celiac disease and sprue. Recommendations of the German Society for Pathology Task Force on Gastroenterologic Pathology].

The diagnosis of celiac disease (CD) is based upon histological findings in duodenal or jejunal biopsy specimens. In recent years it has been seen that the development of CD lesion in the small bowel is a dynamic process which may present in various histological forms. At one end of the spectrum is a mucosa with normal architecture and an increase in intraepithelial lymphocytes; at the other end is the classical flat mucosa. Histological features supporting the diagnosis of CD are architectural changes of the villi and/or crypts, an increase in lamina propria cell density, and an increase in intraepithelial lymphocytes counts. Exact histological classification of the histological findings is required for diagnostic purposes and for monitoring of CD patients. This has become possible by using a modified Marsh classification. We present both the histological presentation of CD and the modified Marsh classification, and the most important differential diagnoses.

Biopsy↗
PubMed2003

Association of MICA-A5.1 allele with susceptibility to celiac disease in a family study.

OBJECTIVE: The aim of this study was to analyze the role of the major histocompatibility complex class I chain-related gene A (MICA) transmembrane polymorphism in celiac disease (CD) susceptibility. METHODS: Sixty-one celiac Spanish families were genotyped for MICA transmembrane polymorphism by a polymerase chain reaction method combined with fluorescent technology. A transmission disequilibrium test was performed to investigate the preferential transmission of MICA alleles to the affected offspring. RESULTS: The MICA A5.1 allele was shown to be significantly transmitted to the affected siblings. This association was independent of the CD-predisposing DQ2 haplotype. Additionally, we classified our celiac families into typical and atypical groups as we found a significant association with MICA A5.1 in typical celiac families. There was also an association tendency with atypical families. CONCLUSIONS: Our data suggest that the MICA A5.1 allele is associated with CD development independently of DQ2-extended haplotype and clinical forms of CD.

Alleles↗
PubMed2005

Smoking and celiac disease: a population-based cohort study.

BACKGROUND & AIMS: Earlier studies indicate a protective effect of smoking against celiac disease (CD), but have been based on small numbers and retrospective collection of smoking data. METHODS: We linked the Swedish national inpatient register and the medical birth register to study the association between smoking status during pregnancy and CD (diagnosed or undiagnosed at delivery) in women who were pregnant from 1983 to 2001. We adjusted for civil status, age, and year when smoking data were collected. We identified 873 cases of CD (636 diagnosed and 237 undiagnosed). RESULTS: Of 249,967 smokers, 67 (.27%) had undiagnosed CD (vs 170 of 794,912 nonsmokers [.21%]) (odds ratio [OR], 1.25; 95% confidence interval [CI], .94-1.66; P = .118). Point estimates remained unchanged when adjusting for civil status, age, and year of smoking data collection (adjusted OR [AOR], 1.25; 95% CI AOR, .94-1.67). There were no associations between smoking and future (undiagnosed at delivery) CD when we adjusted for potential confounders and stratified for comorbidity or time to diagnosis (< 5 vs > or =5 y after infant birth). In women with diagnosed CD, smoking was more common than in women who never had a diagnosis of CD (AOR, 1.36; 95% CI AOR, 1.12-1.64; P = .002). CONCLUSIONS: Smoking seems to have little effect on the risk for future CD in pregnant women.

Adolescent↗
PubMed1992

HLA-DR and -DQ genotypes of celiac disease patients serologically typed to be non-DR3 or non-DR5/7.

The susceptibility to develop celiac disease (CD) seems to be primarily associated to a particular HLA-DQ alpha/beta heterodimer encoded by the DQA1*0501 and DQB1*0201 alleles, in cis position on the DR3-DQ2 haplotype or in trans position by DR5-DQ7/DR7-DQ2 heterozygotes. However, exceptional patients exist who are neither DR3 nor DR5/DR7, particularly among Southern European populations. We therefore examined the DRB1, DQA1, and DQB1 alleles of 13 Spanish CD patients who were serologically typed to be neither DR3 nor DR5/DR7. Five patients were found to carry the DQA1*0501 and DQB1*0201 alleles either in cis or in trans position, three of them had previously been serologically mistyped. However, two of these patients carried DQA1*0501 and DQB1*0201 on haplotypes other than DR3 or DR5 in combination with DR7. One of the latter patients carried an unusual DR4-DQ2 haplotype, while another had an unusual DR8-DQ2 haplotype. Four of the remaining eight patients carried DR4-DQ8 haplotypes. Taken together, our findings provide further evidence that the DQ alpha/beta heterodimer encoded by the DQA1*0501 and the DQB1*0201 alleles confers the primary HLA-associated susceptibility to develop CD. However, our studies also corroborate that a second (and "weaker") HLA-associated CD susceptibility gene may be present on some DR4-carrying haplotypes.

Adolescent↗
PubMed1990

Susceptibility to develop celiac disease is primarily associated with HLA-DQ alleles.

We have recently reported that the susceptibility to develop celiac disease (CD) seems to be primarily associated to a particular combination of an HLA-DQA1 (DQA1*0501) and an HLA-DQB1 (DQB1*0201) allele: i.e., a particular DQ alpha/beta heterodimer. To investigate whether certain DP alleles might also contribute to the genetic susceptibility, DPA1 and DPB1 genes of 94 CD patients and 132 healthy controls were examined by probing in vitro amplified DNA with sequence-specific oligonucleotide probes corresponding to all hitherto known DPA1 and DPB1 alleles. The frequencies of the DPA1*0201 and of the DPB1*0101 alleles were increased in CD patients compared to healthy controls (0.31 versus 0.14 and 0.25 versus 0.08, respectively). However, these DP alleles were in linkage disequilibrium with CD-associated DQ alleles in the normal population, and the difference in frequency of these DP alleles was no longer significant when CD patients and healthy controls carrying the CD-associated DQA1*0501 and DQB1*0201 alleles were compared. DQB1*0201 homozygous individuals were overrepresented among DQB1*0201-positive patients compared to controls. When DQB1*0201 heterozygous patients and controls were compared, nearly identical frequencies of the DPA1*0201 and the DPB1*0101 alleles were found. Thus, the observed increase of the DPA1*0201 and DPB1*0101 alleles among CD patients seems mainly to be caused by linkage disequilibrium to the CD-associated DQ alleles.

Alleles↗
PubMed2005

Celiac disease and risk of adverse fetal outcome: a population-based cohort study.

BACKGROUND & AIMS: Studies of maternal celiac disease (CD) and fetal outcome are inconsistent, and low statistical power is likely to have contributed to this inconsistency. We investigated the risk of adverse outcomes in women with CD diagnosed prior to pregnancy and in women who did not receive a diagnosis of CD until after the delivery. METHODS: A national register-based cohort study restricted to women aged 15-44 years with singleton live born infants was used. We identified 2078 offspring to women who had received a diagnosis of CD (1964-2001): 1149 offspring to women diagnosed prior to birth and 929 offspring to women diagnosed after infant birth. Main outcome measures were: intrauterine growth retardation, low birth weight (<2500 g), very low birth weight (<1500 g), preterm birth (<37 gestational weeks), very preterm birth (<30 gestational weeks), and caesarean section. RESULTS: Undiagnosed CD was associated with an increased risk of intrauterine growth retardation (OR = 1.62; 95% CI: 1.22-2.15), low birth weight (OR = 2.13; 95% CI: 1.66-2.75), very low birth weight (OR = 2.45; 95% CI: 1.35-4.43), preterm birth (OR = 1.71; 95% CI: 1.35-2.17), and caesarean section (OR = 1.82; 95% CI: 1.27-2.60). In contrast, a diagnosis of CD made before the birth was not associated with these adverse fetal outcomes. CONCLUSIONS: Undiagnosed maternal CD is a risk factor for unfavorable fetal outcomes, but the risks are reduced when CD has been diagnosed. CD diagnosed prior to pregnancy does not constitute a great a risk as undiagnosed CD.

Adolescent↗
PubMed2005

Prevalence of celiac disease in Brazilian children and adolescents with type 1 diabetes mellitus.

OBJECTIVE: A previously unrecognized high prevalence of celiac disease (CD) has been found by screening among European and North American patients with type 1 diabetes mellitus (DM 1). The prevalence of CD among Brazilian children with DM1 is not known. This study was conducted to determine the prevalence of CD in Brazilian children and adolescents with DM 1. METHODS: One hundred and four children and adolescents with DM 1 (52 males and 52 females; age range 22 months - 19 years) and 105 age and gender-matched control participants were screened for CD using the IgA anti-endomysial antibody test (IgA-EmA) and total serum IgA. A small bowel biopsy was performed in all patients with positive IgA-EmA. RESULTS: Nine of 104 diabetic patients (8.7%) had a positive IgA-EmA. Biopsies were normal in four patients, two had partial or subtotal villous atrophy with elevated intraepithelial lymphocyte (IEL) counts, and three showed partial villous atrophy but with IEL counts under the maximum limit adopted (40 IEL/100 enterocytes). EmA-IgA positive patients had mild, non-specific gastrointestinal complaints including dyspepsia, abdominal pain, flatulence and constipation. All control participants had negative results for IgA-EmA. CONCLUSION: The prevalence of CD in a group of Brazilian pediatric DM 1 patients was at least 4.8%, a prevalence comparable to European and North American studies. The high prevalence of CD among DM 1 emphasizes the need for routine screening in all countries including Brazil.

Abdominal Pain↗
PubMed1994

Pancreatic insufficiency in celiac disease is not dependent on nutritional status.

To determine the relationship between pancreatic secretory capacity and nutritional status in celiac patients, we studied 52 patients with celiac disease (24 males, 28 females; age range 6-36 months) and 30 healthy control subjects (14 males, 16 females; age range 6-42 months). A secretin-cerulein test was performed on all patients, and levels of serum albumin and plasma fibronectin were assayed. In addition, weight/height ratios were calculated in the celiacs, who were then divided into three groups on this basis, as follows: celiacs with weight/height ratio < or = 3rd percentile; those with weight/height ratio between the 4th and 10th percentiles; and those with weight/height ratio > 10th percentile. There was no significant difference in the duodenal output of chymotrypsin, phospholipase and lipase between these groups. When the total celiac group was compared to control subjects, only lipase levels were significantly lower (P < 0.009). However, subnormal values in one or more pancreatic enzymes were observed in 15/52 celiacs (29%). A residual enzyme activity < 10% of normal secretory capacity, was also found in 4/52 patients. There was no correlation between the output of the various pancreatic enzymes and levels of albumin, fibronectin, and weight/height ratios in the patients. Furthermore, there was no difference in weight/height ratios and levels of albumin and fibronectin between the celiac subjects with pancreatic deficiency and those with normal pancreatic function. We conclude that a mild/moderate pancreatic insufficiency is quite frequent in celiacs, but that it may be completely independent of nutritional status; further studies are therefore required to shed light on its pathogenesis.

Biopsy↗
PubMed1996

An unusual association: celiac disease and Becker muscular dystrophy.

A history of poor growth in early childhood associated with persistent diarrhea and iron deficiency anemia led to a diagnosis of celiac disease in a 9-yr-old boy hospitalized for acute rhabdomyolysis. Elevated serum creatine kinase levels had been documented over the previous years, and Becker's muscular dystrophy was diagnosed by immunostaining of dystrophin and DNA analysis.

Acute Disease↗
PubMed2001

Screening for autoantibodies to tissue transglutaminase reveals a low prevalence of celiac disease in blood donors with cryptogenic hypertransaminasemia.

Patients with chronic cryptogenic hypertransaminasemia are at high risk of developing celiac disease (CD). In fact, among the various serological disorders, CD patients at onset frequently present hypertransaminasemia. In this study, we evaluated usefulness and reliability of the new test for antitissue transglutaminase (tTG) in screening for CD as well as in estimating the prevalence of CD in a population of blood donors presenting unexplained hypertransaminasemia at donation. Controls were 180 consecutive healthy donors without hypertransaminasemia and 20 CD patients with known antiendomysial antibody (EmA) positivity. Out of 22,204 blood donors over a period of 2 years, we found 258 subjects (1.2%) with cryptogenic hypertransaminasemia. Four of these subjects (1.5%) were positive for anti-tTG, but only 3 of them were positive for EmA. EmA were negative in all the remaining hypertransaminasemia subjects. In the control groups, anti-tTG antibodies were negative in all the 180 healthy donors without hypertransaminasemia, but positive in all the CD patients known to be EmA positive. 3 of the 4 subjects positive for anti-tTG, including 2 who were also EmA positive, underwent biopsy of the distal duodenal mucosa which showed a picture compatible with CD only in the 2 patients with concomitant EmA positivity. After 3 months of gluten-free diet, the serum transaminase values normalized in these 2 patients. In conclusion, the prevalence of CD in our blood bank population was lower than that reported in other similar studies, but the new test for anti-tTG showed a good sensitivity and reliability, and, therefore, it can be proposed as a first-level test in screening for CD in selected populations such as subjects with hypertransaminasemia.

Adult↗
PubMed2002

Value of a screening algorithm for celiac disease using tissue transglutaminase antibodies as first level in a population-based study.

OBJECTIVE: Serological screening for celiac disease (CD) can detect a large number of otherwise undiagnosed patients based on the sequential evaluation of serological tests and intestinal biopsy. The aim of this study was to compare the screening value for CD of two different protocols for the same community-based population. METHODS: We screened 1,000 consecutive subjects (497 women, age range 16-71 yr) attending a centralized laboratory for obligatory prenuptial blood tests. Serum samples obtained from all subjects were processed using two different protocols: I) a three-level classic screening consisting of the parallel use of IgG and IgA antigliadin antibodies as first level, followed by endomysial antibodies and total serum IgA for positive patients, and finally, intestinal biopsy of positive patients; and 2) a study screening protocol consisting of the parallel use of a commercial guinea pig antitissue transglutaminase antibody and total serum IgA as first line, endomysial antibodies (type IgA and/or IgG) for positive patients, and finally, intestinal biopsy. RESULTS: The classic screening protocol identified five subjects who were eligible for intestinal biopsy, which confirmed the presence of CD in all (prevalence 5.0 x 1,000, 95% CI = 1.6-11.6). Using the study algorithm, we detected seven new patients including the five patients detected by the first protocol (prevalence 7.0 x 1,000, 95% CI = 2.8-14.4). The two additional patients diagnosed using the proposed algorithm had positive IgG antigliadin antibodies and normal total serum IgA and were not detected by the classic protocol. Both patients were endomysial antibodies positive. The comparative analysis showed that the classic approach was more expensive (U.S. $4,687 per new patient detected) compared with the proposed study algorithm (U.S. $3,006). CONCLUSIONS: Our data showed that a new screening protocol using antitissue transglutaminase as first line followed by endomysial antibodies is a cost-effective screening and yielded more realistic figures of prevalence for CD in a community setting than the classic three-level sequential evaluation using antigliadin antibodies.

Adolescent↗
PubMed2005

Gut microflora associated characteristics in children with celiac disease.

OBJECTIVES: The aim of the study was to investigate the metabolic function of intestinal microflora in children with celiac disease (CD) in order to find out if there is a deviant gut flora in CD patients compared to healthy controls. METHODS: The study group comprised children with CD, consecutively diagnosed according to current criteria given by the European Society for Paediatric Gastroenterology, Hepatology, and Nutrition. Thirty-six children were studied at presentation, i.e., on a normal gluten-containing diet, with clinical symptoms and signs indicative of CD, positive celiac serology markers, and a small bowel biopsy showing severe enteropathy. Forty-seven patients were studied when they had been on a gluten-free diet (GFD) for at least 3 months. For comparison, a group of 42 healthy controls (HC) were studied. The functional status of the intestinal microflora was evaluated by gas-liquid chromatography of short chain fatty acids (SCFAs) in fecal samples. RESULTS: There was a significant difference between untreated CD children and HC as well as between treated CD children and HC regarding acetic, i-butyric, i-valeric acid, and total SCFAs. The propionic and n-valeric acids differed significantly between CD children on GFD and HC. Moreover, there was a strong correlation between i-butyric and i-valeric acids in all study groups. CONCLUSIONS: This is the first study of the SCFA pattern in fecal samples from children with CD. The results indicate that there is a difference in the metabolic activity of intestinal microbial flora in children with CD compared to that in HC. The finding of a different pattern of some SCFAs in celiacs both at presentation and during treatment with GFD indicates that it is a genuine phenomenon of CD not affected by either the diet, the inflammation, or the autoimmune status of the patient.

Biomarkers↗
PubMed1977

Inflammatory cell count and identification in specific duodenitis. (Celiac disease, Whipple's disease and Crohn's disease). Comparison with jejunal findings.

The authors studied the count and identification of inflammatory cells in duodenal biopsies of specific duodenitis. In celiac disease there is an increase of lymphocytes in the epithelial layer, and rich population of plasmacells in the lamina propria of duodenal mucosa. In Whipple's disease the reticulum cell component of lamina propria is increased, while total inflammatory cells are within normal limits, and both lymphocytes and plasmacells are decreased. The comparison between duodenal and jejunal findings shows similar data in celiac and Whipple's disease. In Crohn's disease the inflammatory cell count differs from controls only in presence of radiological or endoscopical features of duodenal involvement.

Adult↗
PubMed2005

Celiac disease: is the atypical really typical? Summary of the recent National Institutes of Health Consensus Conference and latest advances.

Celiac disease (CD) is an immune-mediated enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. Gluten is a protein component in wheat and other cereals, such as rye and barley. At present, the only available treatment is a strict gluten-free diet. Recent advances have increased our understanding of the molecular basis for this disorder. The past decade has seen new scientific developments in this disease and led to the formulation of new concepts of pathophysiology and clinical manifestations. There are several targets for new treatments. This article briefly summarizes the National Institutes of Health Consensus Statement and gives an overview of new findings in recent years and of future therapeutic options for CD.

Celiac Disease↗
PubMed1996

Impact of modification of diagnostic techniques and criteria on the presentation of celiac disease in the last 16 years. Observation in Rome.

Age of diagnosis and clinical pattern were studied in 97 celiac patients, diagnosed with jejunal biopsy, between 1976-1991. They were selected on the basis of clinical and laboratory patterns. The laboratory tests utilized were steatorrhea and xylose in the first years, while in recent years AGA, ARA and AEA were also utilized. The patients were divided into two groups, based on the year of first biopsy. The first group includes 36 cases diagnosed between 1976-1985, the second one 61 cases diagnosed between 1986-1991. In recent years an increase in the number of cases has been observed in our centre, particularly in patients over 2 years of age, while the number of diagnoses in children under 2 years of age was essentially the same. So-called typical symptoms prevailed in the first group, while so-called atypical symptoms are more frequent in the second. If an increase of incidence of celiac disease within the population is confirmed, a mass screening will be necessary in order to identify the atypical forms, utilizing laboratory tests, for the purpose of selecting patients to be subjected to an intestinal biopsy.

Adolescent↗