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PubMed2005

[Clinical presentation of children with celiac disease attended at a Brazilian specialized university service, over two periods of time].

BACKGROUND: Several studies have demonstrated changes in the forms of clinical presentation of celiac disease in children and adults, with an increased occurrence of atypical forms. AIM: To determine this fact in Clinical Hospital, Ribeirão Preto, SP, Brazil. METHODS: Celiac patients were studied over two different periods of time, from January 1978 to December 1987 (group 1 = G1) and from January 1988 to December 1997 (group 2 = G2). Time of disease, age at diagnosis and nutritional status and clinical forms were investigated. The typical form was considered to be present if the patient had at least two of the following signs/symptoms: diarrhea, abdominal distention, and weight loss, associated or not with others. RESULTS: Clinical forms (%) - G1: typical 57.14 and atypical 42.85. G2: typical 55.18 and atypical 44.82. Median age at diagnosis: 23 months (G1) and 21 months (G2). Interval between the onset of symptoms and the diagnosis: 13 months (G1) and 11 months (G2). Gomez nutritional status G1: Eutrophy = 23.8, DI = 47.61, DII = 23.8 and DIII = 4.76. G2: Eutrophy = 20.68, DI = 48.27, DII = 27.58 and DIII = 3.44. Waterloo G1: Eutrophy = 23.8, Wasting = 14.28, Stunting = 28.57 and Chronic = 33.33. G2: Eutrophy = 20.68, Wasting = 13.79, Stunting = 34.48 and Chronic = 31.03. No statistically significant differences occurred between the groups for any of these parameters. CONCLUSIONS: No change in the forms of presentation or remaining clinical characteristics of celiac disease occurred in our service. This may be due to the population characteristics or to differences among health services, or to different periods of observation.

Age of Onset↗
PubMed1993

Cortical vascular abnormalities in the syndrome of celiac disease, epilepsy, bilateral occipital calcifications, and folate deficiency.

The pathological changes in the syndrome of celiac disease, folate deficiency, bilateral occipital calcifications, and intractable epilepsy have not been previously described. A child with this disorder had a field defect correlating with active lateralized epileptic discharges and asymmetrical lesions. After resection of the right occipital lobe she was seizure free for 4 years. A cortical vascular abnormality with patchy pial angiomatosis, fibrosed veins, and large jagged microcalcifications was found. These pathological abnormalities were similar though not identical to those found in the Sturge-Weber syndrome.

Calcinosis↗
PubMed2006

Serologic and genetic markers of celiac disease: a sequential study in the screening of first degree relatives.

OBJECTIVES: The prevalence of celiac disease (CD) among the relatives and the complications of an undiagnosed CD prompted us to identify a useful disease screening strategy. METHODS: We studied 441 first degree relatives of 208 CD patients by immunoglobulin (Ig)A antiendomysium antibodies (EMA) and radioimmunoprecipitation assay (RIA) IgA antitransglutaminase autoantibodies (TGAA). Of these, 364 were typed for human leukocyte antigen-DRB1, -DQA1, and -DQB1 genes by the polymerase chain reaction sequence specific primers method. It was suggested to the autoantibody-positive subjects that they should undergo intestinal biopsy. RESULTS: TGAA were positive in 46 of 439 relatives, EMA in 38; intestinal lesions related to CD were present in 40 subjects. We also found two immunodeficient fathers with duodenal villous atrophy. In three serology-positive subjects, permission for intestinal biopsy was refused; for another three serology-positive cases, duodenal mucosa was normal. Thus, the strict CD prevalence resulted 9.5%, the enlarged prevalence 10.9%. The DQ2/DQ8 heterodimers were carried in 231 of 364 subjects and in 38 of 40 biopsy-proven celiac patients. Three DQ2-positive parents became positive to the serology during a long-lasting follow-up. CONCLUSIONS: On the basis of a carefully conducted study, CD prevalence in our series was seen as very high. These data suggest an accurate algorithm to select candidates for intestinal biopsy among CD high-risk subjects. First, an evaluation of the sensitive RIA TGAA and of total IgA (in IgA deficiency RIA IgG anti-tissue transglutaminase assay) should be performed. Then, an evaluation of the TGAA and the genetic study would be advisable 2 to 3 years later in negative subjects. Those carrying the DQ2/DQ8 heterodimers should continue the serologic follow-up; the others need a clinical follow-up.

Adolescent↗
PubMed2003

Celiac disease in patients with sporadic and inherited cardiomyopathies and in their relatives.

AIMS: To investigate celiac disease (CD) and related co-morbidity in patients with familial and sporadic cardiomyopathy and in their relatives. METHODS AND RESULTS: We screened anti-human-tissue-transglutaminase (IgA and IgG anti-h-tTG) and anti-endomysial antibodies (AEAs) in 238 consecutive adult patients with inherited or sporadic dilated cardiomyopathy (DCM), 418 relatives, and 2000 healthy blood donors. HLADQ2-DQ8 was tested in tTG-positive subjects. The IgA-tTG-positive patients with cardiomyopathy underwent duodenal biopsy. Twenty-six subjects were tTG-positive: five DCM patients (2.1%), two of 28 (7.1%) and three of 390 (0.7%) relatives with and without echocardiographic abnormalities respectively, and 16 controls (0.8%). Twenty-two of 26 subjects were AEA-positive, and 25 HLA-positive. Of the five patients with cardiomyopathy and biopsy-proven CD, four suffered iron-deficiency anaemia. Two CD-positive DCM patients and two tTG-positive relatives were from families with inherited disease in which CD did not co-segregate with DCM. CONCLUSIONS; The higher prevalence of CD in patients with sporadic or inherited DCM, and of tTG-positive serology in relatives with echocardiographic abnormalities, suggests that immune-mediated mechanisms are active in subsets of patients/families. However, gluten intolerance cannot be considered causative since CD seems to be associated but not co-segregated with DCM in familial cases.

Adolescent↗
PubMed2001

[Adult celiac disease: study of 21 cases and review of the bibliography].

Celiac sprue is a chronic disease characterized by a typical lesion in the small intestine and nutrient malabsorption that improves on withdrawal of dietary gluten. Adult celiac disease (or gluten enteropathy) is a common and under-diagnosed disease since presentation varies among a) symptomatic or clinically active forms (including mono- or oligosymptomatic forms), b) asymptomatic, subclinical or silent forms, and c) latent forms. We present a descriptive study of a retrospective series of patients diagnosed with symptomatic or clinically active adult celiac disease who required hospitalization between January 1993 and June 2000. The form of symptomatic expression, biological alterations, investigations that confirm the diagnosis, associated diseases, complications and response to treatment are described.

Adolescent↗
PubMed1991

Immunoglobulin heavy chain allotypes in a sample of Sicilian patients with celiac disease.

The authors have studied the immunoglobulin heavy chain allotypes in 14 Sicilian patients with celiac disease (CD) and in 75 healthy controls. No association has been found between CD and Gm or Km phenotypes. When the role of Gm phenotypes in immune response against gliadin was analyzed, fb-positive CD patients on gluten-free diet for 1 year showed an increased antigliadin IgG response. Comparing the values of fb-positive subjects with those of negative ones, a significant difference was observed. These data, demonstrating that the presence or absence of a phenotype is able to define the breadth of immune response against alpha-gliadin antigen, are indicative of the role played by Ig allotypes in CD.

Adolescent↗
PubMed1994

Peripheral T cell response to A-gliadin in celiac disease: differential processing and presentation capacities of Epstein-Barr-transformed B cells and fibroblasts.

Celiac disease (CD) is a small intestinal disorder characterized by the malabsorption of most nutrients. Disease pathogenesis appears to be associated with immune-mediated pathology. Susceptibility is associated with genes coding for DQw2 class II molecules. In the present report we investigated T cell responses to A-gliadin (AGL), a major alpha-gliadin component known to activate disease. Gliadin-specific lines were generated from a CD patient and a normal donor. Three major points were revealed by the analysis of these T cells: (1) On the basis of mapping experiments using Epstein-Barr virus (EBV) lines and DR-transfected fibroblasts and DR-, DP-, and DQ-specific monoclonal antibodies (mAb), all responses appeared to be DR-restricted. Thus, in contrast to the strong association of disease susceptibility with DQ molecules, no DQ-restricted, gliadin-specific response was detectable. (2) Fine specificity analysis, using a panel of synthetic peptides spanning the entire alpha-gliadin component molecule, revealed that the clones derived from the normal donor were DR53-restricted and AGL 21-40-specific, while clones derived from the CD patient were DR7-restricted and peptide 1-20-specific. (3) Both whole AGL and AGL 1-20 were presented to the patient-derived clones with much higher efficiency by DDR-transfected fibroblasts than by EBV lines. These data suggested that fibroblasts processed this determinant efficiently, while EBV lines were unable to do so. Indeed, analysis of a panel of truncated AGL 1-20 analogs revealed that peptide AGL 1-8, which contained the minimal T cell epitope, was presented with equal efficiency by fixed or irradiated EBV and irradiated DR7-transfected fibroblasts.

Adult↗
PubMed2005

Celiac disease in patients with an affected member, type 1 diabetes, iron-deficiency, or osteoporosis?

Celiac disease (CD) may be a much under recognized condition, in part because it is not considered in those patients at high risk or in clinical conditions that may be a manifestation of CD. Screening high-risk groups may reveal a higher prevalence than seen in the general population. Several diseases have been described to have an association with CD that may be greater than by chance alone. The presence of autoimmune conditions such as insulin-dependent diabetes mellitus (T1DM) or a family history of CD or dermatitis herpetiformis may increase the risk of coexisting CD. The prevalence of CD may be increased in certain patient groups, including the following: osteoporosis or low bone mass or iron-deficiency anemia. Many studies, including population-based work, suggest a prevalence of CD of 3%-7% of T1DM and 4%-10% of first-degree family members. Anemia and osteoporosis are common in patients with newly diagnosed CD. Conversely, CD is common in referral populations with those conditions but makes a relatively small contribution to the overall community prevalence of anemia or postmenopausal osteoporosis. Most screen-found patients tend to have little or no gastrointestinal symptoms. In conclusion, significant reservoirs of CD can be found in some at-risk groups, such as those with T1DM, family members, and referred patients with osteoporosis and anemia. It is not clear what impact CD has on the quality of life of these individuals.

Anemia, Iron-Deficiency↗
PubMed2000

Accuracy and cost-effectiveness of a new strategy to screen for celiac disease in children with Down syndrome.

OBJECTIVES: To investigate the best approach to screen for celiac disease (CD) in patients with Down syndrome (DS). STUDY DESIGN: One hundred thirty-seven children with DS were followed up longitudinally. CD screening was offered in 1994, 1996, and 1999 by determination of serum immunoglobulin A-anti-endomysium antibodies (AEA). The HLA-DQA1*0501/DQB1*02 allelic combination known to be strongly positively associated with CD was typed. All IgA-AEA-positive children were given the opportunity to undergo a small bowel biopsy: if villous atrophy was found, the diagnosis of CD was established. RESULTS: CD was diagnosed in 11 (8%) children: 8 in 1994 and 3 in 1996. All of them carried the HLA-DQ alleles associated with CD. The presence of symptoms was not useful in discriminating which children could have CD. CONCLUSIONS: Screening once in a lifetime is not enough to detect CD in patients with DS. We propose a new, accurate, and cost-sparing 2-step strategy for screening, based on selection of the individuals with potential CD by HLA-DQ typing and on longitudinal serologic CD screening in this selected group.

Alleles↗
PubMed1977

The association of HL-A-B8 and childhood celiac disease in an Israeli population.

The frequency of histocompatibility antigens (HL-A) was studied in 33 children with celiac disease. HL-A-B8 phenotype was detected in 27.3% of the celiac patients and 7.5% of 395 carefully matched control subjects (X2 for heterogeneity=14.23; P less than 10(-4)). HL-A typing, especially in children, is advocated both as a diagnostic and a prognostic measure. The importance of ethnically matched control subjects is discussed together with a proposal for the construction of such control groups.

Adolescent↗
PubMed1993

HLA susceptibility genes in celiac disease: genetic mapping and role in pathogenesis.

The overrepresentation of particular HLA alleles in patients with celiac disease was first noted two decades ago. Several lines of evidence obtained during the last years strongly suggest that a particular HLA-DQ heterodimer, encoded by the DQA1*0501 and DQB1*0201 genes in cis or trans configuration, confers the primary disease susceptibility. This paper reviews the evidence behind this concept and discusses how this particular DQ molecule may be involved in the pathogenesis.

Alleles↗
PubMed2005

Gallbladder contraction, gastric emptying and antral motility: single visit assessment of upper GI function in untreated celiac disease using echo-planar MRI.

PURPOSE: To assess gallbladder contraction, gastric emptying, and antral motility in untreated celiac patients and healthy controls using a single MRI examination. MATERIALS AND METHODS: Gallbladder emptying, gastric emptying, and antral motility were measured in 15 celiac patients and 15 age/sex-matched healthy controls following a 323-kcal test meal using EPI techniques. Postprandial dyspepsia scores were recorded on a questionnaire. RESULTS: Fasting gallbladder volume (P=0.01) and the volume of bile ejected postprandially (P=0.014) were increased in celiacs. Gastric emptying tended to be slower in celiacs (P=0.142). Three celiac patients with severe postprandial dyspepsia and total villous atrophy had pathologically delayed gastric emptying and increased fasting gallbladder volume. Antral contractions were absent in five out of 14 patients (36%) five minutes after the meal, but in none of 10 volunteers in whom the antrum could be visualized (P=0.128). CONCLUSION: This study shows that using MRI, multiple parameters related to upper gastrointestinal function in celiac disease can be measured in a single noninvasive study, whereas previously three separate visits would have been required. Celiacs have increased fasting gallbladder volumes and tend to have slower gastric emptying.

Adolescent↗