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PubMed2004

Natural killer cell lymphoma of small intestine with features of enteropathy but lack of association with celiac disease.

A primary small intestinal natural killer (NK) cell lymphoma with pathologic features of enteropathy but lack of association with celiac disease is reported. A 37-year-old man presented with tarry stool, coffee-ground vomitus, and mild fever. He did not have chronic diarrhea or malabsorption. Segmental resection of the duodenum and jejunum showed multicentric transmural infiltration by medium-sized lymphoma cells expressing CD3, CD8, cytotoxic granules, and Epstein-Barr virus by in situ hybridization. The nontumorous mucosa away from the main tumor revealed enteropathy with villous blunting and increased intraepithelial lymphocytes sharing the same immunophenotype as the lymphoma cells. Both lymphoma and nontumorous areas were germline for T-cell receptor-gamma and immunoglobulin heavy chain gene rearrangement. Serologic test by ELISA was negative for anti-transglutaminase. The patient died of repeated gastrointestinal bleeding and sepsis at 2 months. Differential diagnosis of this unique nasal-type NK-cell lymphoma with enteropathy-associated T-cell lymphoma is discussed.

Adult↗
PubMed2000

The prevalence of celiac disease in at-risk groups of children in the United States.

OBJECTIVE: In contrast to its prevalence in Europe, celiac disease (CD) is considered rare in the United States. We aimed to determine the prevalence of CD in children presenting with symptoms or conditions associated with CD. STUDY DESIGN: Individuals aged 6 months to 20 years were screened for IgG and IgA antigliadin (AGA-IgG and AGA-IgA) and antiendomysium (EMA) antibodies. Those with only elevated AGA-IgG were screened for selective IgA deficiency. Patients with elevated EMA, or AGA-IgG elevation and selective IgA deficiency, were advised to undergo small intestinal biopsy. RESULTS: A total of 1200 individuals were studied; 34 were EMA positive-26 (19 EMA positive) consented to biopsy and 21 had CD, giving a prevalence of 1 in 57 (21/1200). Including the 15 EMA positive patients who refused a biopsy, the prevalence of CD in this study could be as high as 1 in 33 (36/1200). CONCLUSIONS: CD is not rare in the United States and may be as common as in Europe. AGA and EMA are useful for identifying patients who should undergo a small intestinal biopsy.

Adolescent↗
PubMed2000

Increased prevalence of celiac disease in girls with Turner syndrome detected using antibodies to endomysium and tissue transglutaminase.

OBJECTIVE: To establish the prevalence of celiac disease (CD) in girls with Turner syndrome (TS) in British Columbia. METHODS: Forty-five girls with TS were prospectively screened for CD using blinded testing with the current 'gold standard' - immunoglobulin A (IgA) endomysium antibody (EmA) and the novel IgA tissue transglutaminase antibody (tTG). Those with positive results were offered small bowel biopsies, and a gluten-free diet was recommended if CD was confirmed. RESULTS: One asymptomatic prepubertal East Indian girl was positive for EmA, had an elevated tTG concentration of 560 U/mL and histological evidence of CD. Seven girls were negative for EmA but had elevated tTG concentrations (175 to 250 U/mL); five were white, one was Asian and one was East Indian. Small bowel biopsies were performed on three girls, and the histologies were normal. The remaining four patients declined biopsy. CONCLUSIONS: One girl with TS was identified with CD from 45 screened, giving an overall biopsy-confirmed prevalence of 2.2%. This study confirms previous observations placing girls with TS at higher risk for CD and suggests a similar high prevalence in British Columbia.

Adolescent↗
PubMed1998

Indirect immunofluorescence for of anti-jejunum antibody detection in celiac disease: comparison among different antigenic substrates.

BACKGROUND: Although anti-endomysium antibodies (EmA) are the most reliable serological markers of celiac disease (CD), there is a need for low-cost methods for screening programs, as clinically silent disease is increasingly recognized. AIM: To evaluate the suitability of monkey, rat and rabbit jejunum as a substrate for the determination of anti-jejunun antibodies (JAB) in CD. METHODS: JAB of IgA class were detected by indirect immunofluorescence on frozen sections of jejunum from monkeys, white rats and domestic rabbits. Sera from 61 untreated adults with biopsy-proven CD and EmA positivity in 57 out of 61 entered the study as true positives, while sera from 60 controls were considered as true negatives. RESULTS: The sections of monkey jejunum showed the characteristic pattern of elongated villous fluorescence, a ring-like positivity of the cryptal basement membrane, an endomysium-like fluorescence along the smooth muscle layers in the tunica muscolaris, while pericryptal fluorescence was not so evident on rat and rabbit jejunum. As compared to EmA positivity, the prevalence of JAB on monkey, rat and rabbit tissues was respectively 57/57, 54/57, 52/57. Two sera among 4 Ema negatives proved positive for JAB. No false positivity resulted from EmA and JAB on monkey jejunum, while a lower specificity was found for JAB on rat and rabbit substrates. CONCLUSIONS: Although monkey, rat and rabbit small intestine appeared to be a suitable alternative substrate for determination of IgA-JAB, because of its lower cost and higher availability, it cannot replace monkey oesophagus, and be recommended for wide use.

Adult↗
PubMed2001

Serological screening for celiac disease in healthy 2.5-year-old children in Sweden.

OBJECTIVE: The study was designed to investigate the prevalence of celiac disease (CD) among 2.5-year-old children in a Swedish urban population with a high incidence of CD. MATERIAL AND METHODS: Six hundred ninety apparently healthy children, born in the 12-month period of July 1992 through June 1993, were screened for immunoglobulin A (IgA) antigliadin antibodies and IgA antiendomysium antibodies, and those antibody-positive at repeated testing were further investigated with intestinal biopsy. RESULTS: Of the 690 children, 6 were both IgA antigliadin antibody- and IgA antiendomysium antibody-positive, and 7 were antiendomysium antibody-positive but antigliadin antibody-negative. Jejunal biopsy, performed in 12 cases, manifested partial or total villous atrophy in 8 cases. Thus, together with an additional child whose parents declined the offered biopsy, but whose response to a gluten-free diet confirmed the presence of CD, the prevalence of CD in the study series was 1.3% (9/690; 95% confidence interval:.4-2.2). However, independent of the study, an additional 22 cases of symptomatic, biopsy-verified CD have already been detected in the birth cohort of 3004 children. CONCLUSIONS: The prevalence of CD in our study series was high, at least 1.0%, but may be as high as 2.0% if the frequency of silent CD is as high as we have found in the remaining unscreened cohort. These findings confirm that CD is one of the most common chronic disorders.

Atrophy↗
PubMed2004

Serological screening for celiac disease in premenopausal women with idiopathic osteoporosis.

The aim of this study was to perform serological testing to screen for celiac disease (CD) among premenopausal women with idiopathic osteoporosis and to investigate the bone turnover in patients who are seropositive for CD. We studied 89 premenopausal women with idiopathic osteoporosis. The serological screening protocol was based on a two-level evaluation. The first level consisted of determining serum level of IgA antigliadin antibodies (AGA). Subjects who were negative for IgA AGA were classified as not having CD, while samples testing positive for IgA AGA underwent a second level of the screening process. For the second level of screening, the serum IgA endomysial antibody (EMA) test was performed. Bone metabolism was evaluated by serum calcium (Ca), phosphorus, alkaline phosphatase, parathyroid hormone (PTH), 25 (OH) vitamin D, osteocalcin (OC), urinary deoxypyridinoline (dPD), and 24-h urinary calcium levels. Of the 89 patients evaluated, 17 were found to have positive IgA AGA tests (19%) and 9 were found to be positive for EMA (10.11%). EMA-positive patients showed lower values of serum Ca (p<0.05) and 25 (OH) vitamin D (p<0.01) and significantly higher values of PTH (p<0.01) compared with the EMA-negative patients. The level of urinary dPD was found to be significantly higher in EMA-positive patients (p<0.05). The results of this study suggest that all patients with idiopathic osteoporosis should be screened for CD by measurement of EMA. Additionally, we believe that serological screening for CD and detection of such patients will allow determination of the most convenient treatment strategies for osteoporosis.

Absorptiometry, Photon↗
PubMed2005

Immunoglobulin G (IgG) anti-tissue transglutaminase antibodies used as markers for IgA-deficient celiac disease patients.

The role of immunoglobulin A (IgA) anti-tissue transglutaminase antibodies (IgA-tTG) as predictors of untreated celiac disease (CoD) is well documented, and the presence and levels of these antibodies are most accurately monitored with native or recombinant human antigens. However, IgA-deficient CoD patients are not identified by IgA serology, and conflicting results concerning the diagnostic validity of IgG antibodies against gliadin (IgG-AGA), endomysium (IgG-EmA), and tTG (IgG-tTG) have been reported. The aim of the present study was to evaluate the utility of IgG-tTG for the detection of CoD in IgA-deficient patients. Samples from 115 IgA-deficient and 200 IgA-sufficient subjects were collected and tested for the presence of IgA and IgG antibodies against tTG, EmA, and AGA. Antibodies against tTG were measured by an enzyme-linked immunosorbent assay based on recombinant human tTG, and antibodies against EmA were determined by immunofluorescence. The values for IgG-tTG showed a higher correlation (correlation coefficient [r] = 0.91) with those for IgG-EmA for the IgA-deficient subjects than for the IgA-sufficient subjects (r = 0.88). The overall concordance of the positive and negative results between IgG-tTG and IgG-EmA was 97%, and the IgG-tTG assay discriminated between IgG-EmA-positive and -negative subjects with IgA deficiency at a rate of 100%. Elevated levels of IgG-tTG and IgG-EmA were measured in 70% of the IgA-sufficient subjects. IgG-tTG detection with recombinant human tTG is a good alternative to IgG-EmA detection, and the addition of IgG-tTG assessment to present screening methods may improve the ability to identify IgA-deficient subjects with CoD.

Biomarkers↗
PubMed2006

Celiac disease could be a frequent disease in Mexico: prevalence of tissue transglutaminase antibody in healthy blood donors.

INTRODUCTION/AIM: In North America and Europe, the prevalence of celiac disease (CD) might be much greater than expected in previous estimates. Until recently, the prevalence of CD in Latin America remained largely unknown. So far, information regarding CD in Mexico is limited, and it is still considered a rare disease. Our aim was to determine the prevalence of tTGA in a large group of apparently healthy blood donors. SUBJECTS AND METHODS: Serum samples from 1009 consecutive blood donors, who attended a third level referral center in Mexico City, were collected between June 2004 and December 2004. Only Mexican Mestizo individuals were included. All sera were tested with a new generation human recombinant protein based tTGA-IgA ELISA commercial kit (Aeskulisa tTG-IgA, Wendelsheim, Germany). The cut-off value provided by the manufacturer was 15 U/mL. RESULTS: The mean age of the blood donors was 34+/-10 years and 68% (n=683) were men. Six hundred fifty two subjects (65%) were born in Mexico City; and from the remaining 357 subjects, at least one was born in each of the 31 different states in our country. Twenty-seven (2.7%) blood donors were positive for tTGA-IgA; all of them with tTGA-IgA values above 30 U/mL (range 36 to 1639). Overall prevalence was 1:37 [27/1009, 95% confidence interval (CI)=1.6-3.7]. The prevalence among women was 1:33 (10/326, 95% CI=1.04-5.09) and for men 1:40 (17/683, 95% CI=1.24-3.73). CONCLUSIONS: On the basis of a well-recognized serologic screening method performed to blood donor samples, we demonstrated an unexpectedly high prevalence of tTGA positivity (2.6%) in the adult Mexican Mestizo population. Thus, the prevalence of CD in Mexico could be higher or similar to that observed in other countries. This observation contributes to increase the awareness for this under diagnosed disease in clinical practice and to consider CD as a global health problem.

Adolescent↗
PubMed1989

Extent of lactose absorption in children with active celiac disease.

We have estimated lactose absorption indirectly by the breath H test to see if disaccharide exclusion is necessary for untreated celiac children. Lactose at 2 g/kg body weight (maximum 50 g) was administered to 42 infants and children (ranging in age from 9 months to 12 years) with flat small intestinal mucosa. Later, different amounts of lactose were given to determine the quantities tolerated and absorbed. One hundred percent of patients expired hydrogen more than 20 ppm over the baseline after an oral lactose load of 2 g/kg (maximum 50 g). Thirty-eight percent of them did not tolerate this quantity. Thirty-seven subjects aged 0-6 years absorbed and tolerated 0.5-1.5 g/kg (5-12.5 g total), and five patients aged 6-12 years absorbed and tolerated 0.5-0.6 g/kg (12-16.2 g total). We conclude that in many subjects with untreated celiac disease, lactase activity is sufficient for absorption and tolerance of the amount of lactose present in 250-300 ml cow's milk. Because of lactose's nutritional value, it should not be excluded unless necessary.

Breath Tests↗
PubMed2006

Overweight in celiac disease: prevalence, clinical characteristics, and effect of a gluten-free diet.

BACKGROUND: It is well established that a minority of celiac patients present with "classic" symptoms due to malabsorption. However, few studies have focussed on the distribution of body mass index (BMI) in celiac populations and its relationship to clinical characteristics, or on its response to treatment. METHODS: We reviewed BMI measurements and other clinical and pathological characteristics from a database of 371 celiac patients diagnosed over a 10-yr period and seen by a single gastroenterologist. To assess response to gluten exclusion, we compared BMI at diagnosis and after 2 yr treatment in patients with serological support for dietary compliance. RESULTS: Mean BMI was 24.6 kg/m2 (range 16.3-43.5). Seventeen patients (5%) were underweight (BMI < 18.5), 211 (57%) were normal, and 143 (39%) were overweight (BMI > or = 25), including 48 (13% of all patients) in the obese range (BMI > or = 30.0). There was a significant association between low BMI and female gender, history of diarrhea, reduced hemoglobin concentration, reduced bone mineral density (BMD), osteoporosis, and higher grades (subtotal/total) of villous atrophy. Of patients compliant with a gluten-free diet, 81% had gained weight after 2 yr, including 82% of initially overweight patients. CONCLUSIONS: Few celiac patients are underweight at diagnosis and a large minority is overweight; these are less likely to present with classical features of diarrhea and reduced hemoglobin. Failed or delayed diagnosis of celiac disease may reflect lack of awareness of this large subgroup. The increase in weight of already overweight patients after dietary gluten exclusion is a potential cause of morbidity, and the gluten-free diet as conventionally prescribed needs to be modified accordingly.

Adult↗
PubMed1994

Childhood celiac disease in Estonia: efficacy of the IgA-class antigliadin antibody test in the search for new cases.

The incidence of celiac disease (CD) and the role of IgA-class antigliadin antibody (AGA) determination in revealing new CD cases were studied in Estonia. Altogether 36 cases of CD in Estonian children were diagnosed from January 1976 through June 1992 by criteria recommended by the European Society for Paediatric Gastroenterology and Nutrition. A significant increase was observed in the incidence of CD in Estonia (from 1:25, 130 live births during 1976-1989 to about 1:2,700 live births during 1990-1992), due mainly to the introduction of IgA-class AGA determinations in an active search for celiac patients since 1990. A total of 29 IgA-class AGA-positive cases was revealed among 1,048 children screened, and 23 of them had CD. Thus, the results show a relatively low incidence of CD in Estonia compared to the figures in neighboring countries. However, the incidence will probably increase if a larger pediatric population can be screened for CD using IgA-class AGA enzyme-linked immunosorbent assay.

Adolescent↗
PubMed1991

Celiac disease, brain atrophy, and dementia.

We report 5 patients who developed dementia before age 60 and were subsequently found to have celiac disease (CD). Intellectual deterioration ranged from moderate to severe, and diffuse cerebral or cerebellar atrophy was found on brain CT. Diagnosis of CD was confirmed by findings of subtotal villous atrophy in jejunal biopsy specimens and positive serum reticulin and gliadin antibodies. Conspicuously, gastrointestinal symptoms were mild. The gluten-free diet failed to improve the neurologic disability except in 1 patient. CD is a multisystem disorder and may play a role in some cases of presenile dementia. Although the pathogenetic mechanisms are obscure, immunologic mechanisms are implicated.

Adult↗
PubMed1996

[Celiac disease, cerebral calcifications and epilepsy syndrome].

The syndrome of coeliac disease, epilepsy and cerebral calcifications is a rare complication of coeliac disease. The pathological changes consist in a patchy pial angiomatosis and resemble those of Sturge-Weber syndrome, whose variant without port-wine angioma must be ruled out. Typical course includes three stages leading to a severe encephalopathy. However, the mental impairment is extremely variable. The pathogenetic process is so for unknown; main clues involve a chronic folic acid deficiency or a HLA-related autoimmune disorder. Treatment requires early gluten-free diet and anti-epileptic drug.

Adolescent↗
PubMedDate not supplied

[Oligosymptomatic celiac disease--axis correction of extreme genu valgum with a gliadin-free diet].

We report on a girl who suffered from a severe left-sided Genu valgum. As there was a remarkable deterioration despite a conservative orthopedic therapy on osteotomy was planned. However, preoperative investigations revealed a malabsorption syndrome with osteomalacia due to coeliac disease. This gliadin-sensitive enteropathy had already been diagnosed and treated in infancy but had been ignored, since no abdominal symptoms had occurred after re-introduction of normal food. Four years after start of gliadin-free diet the false position of the left leg had disappeared and an operative correction had not to be performed.

Adolescent↗