Gastrointesinal: Patchy distribution of Coeliac Disease diagnosed with narrow band imaging and optical magnification
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A 20-year old gentleman with a medical history of type 1 diabetes mellitus, depression and hypercholesterolemia was referred for assessment following an incidental finding of positive coeliac serology. On clinical history, the patient was asymptomatic and laboratory investigations revealed a positive tissue transglutaminase IgA antibody titre of > 100 Elisa Units (normal range: < 11) and a positive gliadin IgG antibody titre of 64 Elisa Units (normal range: < 20). He was found to be HLA-DQ2 allele positive and HLA-DQ8 allele negative. There was no evidence of anaemia with a haemoglobin level of 151 g/L (normal range 135–175) or deficiency in haematinics with a ferritin level of 370 ug/L (20–300), serum iron of 24 umol/L (8–30), transferrin of 3.15 g/L (2.00–4.00), transferrin saturation of 30% (10–55%), vitamin B12 of 360 pmol/L (140–700) and serum folate of 26.8 nmol/L (6.5–45). He had previously undergone two endoscopies that revealed normal duodenal biopsies. A repeat endoscopy was performed using a high magnification optical zoom (115X) gastroscopy scope with Narrow Band Imaging capability. Assessment of the duodenum revealed areas of patchy villous atrophy where partial to total villous atrophy can be visualised (Figure 1a) interposed with areas harbouring normal appearing villi (Figure 1b). Targeted biopsies were obtained from both these areas. Histology of the former exhibited total villous atrophy (Figure 2a) confirming the diagnosis of coeliac disease, whilst the “normal” appearing areas demonstrated normal villous morphology (Figure 2b). This case highlights this condition where patients can sometimes present with a patchy distribution of the disease, occasionally require multiple endoscopies for histological confirmation; further delaying a diagnosis which has already been delayed.Keywords:
Villous atrophy
Transferrin saturation
Biopsies from the second part of the duodenum are routinely performed in patients with unintentional weight loss. When villous atrophy and an increased intraepithelial lymphocytosis are detected, the commonest cause of it is coeliac disease. Severe villous atrophy with increased intraepithelial lymphocytosis (Marsh IIIc) is highly specific for coeliac disease. However, coeliac disease with this presentation is very rare. Milder abnormalities such as Marsh I-II (microscopic enteritis) and Marsh IIIa are not specific for coeliac disease and could occur in other conditions like those listed in the discussion. We present the case of a 74-year-old woman who, after being diagnosed with seronegative coeliac disease, failed to improve on a gluten-free diet. We discuss the differential diagnosis of coeliac disease and the possible alternative causes for villous blunting, paying particular attention to the diagnosis of small intestinal bacterial overgrowth.
Villous atrophy
Intraepithelial lymphocyte
Lymphocytosis
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The 'immersion' technique during upper endoscopy allows the visualization of duodenal villi and the detection of total villous atrophy.To evaluate the accuracy of the immersion technique in detecting total villous atrophy in suspected coeliac patients. The accuracy in diagnosing coeliac disease and the potential cost-sparing of a biopsy-avoiding approach, based on selection of individuals with coeliac disease-related antibodies and on endoscopic detection of absence of villi, were also analysed.The immersion technique was performed in 79 patients with positive antibodies and in 105 controls. Duodenal villi were evaluated as present or absent. As reference, results were compared with histology. Diagnostic approaches, including endoscopy with or without biopsy, were designed to investigate patients with coeliac disease-related antibodies and total villous atrophy. A cost-minimization analysis was performed.All patients with positive antibodies had coeliac disease. The sensitivity, specificity, positive and negative predictive values of endoscopy to detect total villous atrophy was always 100%. The sensitivity, specificity, positive and negative predictive values of biopsy-avoiding or biopsy-including strategies in diagnosing coeliac disease when villi were absent was always 100%. The biopsy-avoiding strategy was cost-sparing.Upper endoscopy is highly accurate in detecting total villous atrophy coeliac patients. A biopsy-avoiding approach is both accurate and cost-sparing to diagnose coeliac disease in subjects with marked duodenal villous atrophy.
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The first part of the duodenum has been studied endoscopically in treated and untreated coeliac patients. Biopsies taken from the duodenal cap during endoscopic examination, show villous atrophy similar to that found in the distal duodenum and jejunum. Using the indigocarmine scattering method, severe atrophy of the mucosal surface can be demonstrated throughout the duodenal cap, in vivo, in untreated coeliac disease.
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Jejunum
Duodenoscopy
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Villous atrophy
Presentation (obstetrics)
Degree (music)
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Dermatitis herpetiformis (DH) is a cutaneous manifestation of coeliac disease. At diagnosis, the majority of patients have villous atrophy in the small bowel mucosa. The objective of this study was to investigate whether the presence or absence of villous atrophy at diagnosis affects the long-term prognosis of DH. Data were gathered from the patient records of 352 DH and 248 coeliac disease patients, and follow-up data via questionnaires from 181 DH and 128 coeliac disease patients on a gluten-free diet (GFD). Of the DH patients, 72% had villous atrophy when DH was diagnosed, and these patients were significantly younger at diagnosis compared to those with normal small bowel mucosa (37 vs. 54 years, p < 0.001). Clinical recovery on a GFD did not differ significantly between the DH groups, nor did current adherence to a GFD, the presence of long-term illnesses, coeliac disease-related complications or gastrointestinal symptoms, or quality of life. By contrast, the coeliac disease controls had more often osteopenia/osteoporosis, thyroid diseases, malignancies and current gastrointestinal symptoms compared to the DH patients. In conclusion, villous atrophy at the time of DH diagnosis does not have an impact on the clinical recovery or long-term general health of DH patients.
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Villous atrophy
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The observation of a 21 year-old man with primary common variable hypogammaglobulinemia and total villous atrophy is reported. Gluten withdrawal induced considerable improvement in malabsorption and mucosal damage. However, protein-losing enteropathy, nodular lymphoid hyperplasia and immunoglobulin deficiency were persistent. To our knowledge, improvement on gluten-free diet has been reported until now in 18 previous cases. This report illustrates the links between immunodeficiency and malabsorption, which are discussed.
Hypogammaglobulinemia
Villous atrophy
Common Variable Immunodeficiency
Immunoglobulin A
Gluten free
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Summary Background The causes of seronegative villous atrophy can be grouped as coeliac or noncoeliac related. There is no consensus on how to approach subjects with seronegative coeliac disease. Aim To evaluate the accuracy of both an increase in CD3 + T‐cell receptor gamma delta + (TCRγδ + ) intraepithelial lymphocytes and coeliac lymphogram for the diagnosis of coeliac disease in patients with seronegative villous atrophy. Methods Sixty‐seven consecutive patients with seronegative villous atrophy were included. Duodenal biopsies to assess TCRγδ + and CD3 − by flow cytometry were performed at the index endoscopy. Coeliac lymphogram was defined as an increase in TCRγδ + plus a decrease in CD3 − intraepithelial lymphocytes. Sensitivity, specificity and Fagan's nomogram were calculated. Results Coeliac disease was diagnosed in 37 patients and noncoeliac villous atrophy in 30. Coeliac patients were younger (39 ± 3 vs 55 ± 3 years; P = 0.001), more often showed HLA‐DQ2/8 (97.6% vs 61%; P = 0.002) and had a more severe histology (61% vs 32% Marsh 3b‐c; P = 0.055), as compared to noncoeliac ones. Coeliac lymphogram was associated with a sensitivity of 87% (CI, 73.7‐95) and specificity of 96.7% (82.7‐99.9), whereas evaluating only TCRγδ + yielded a sensitivity of 91.3% (79.2‐97.6) and specificity of 83.3% (65.3‐94.3). Among patients with a pre‐test coeliac disease probability of 30%, post‐test probabilities were 92% and 5% for positive and negative coeliac lymphogram, and 70% and 4% for positive and negative TCRγδ + . Conclusions Coeliac lymphogram was associated with a high level of diagnostic evidence either against or in favour of coeliac disease in patients with seronegative villous atrophy.
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Intraepithelial lymphocyte
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Aim: In a recent study we described that hyperplastic villous atrophy, characteristic of coeliac disease (CD), could be patchily distributed; the bulbar area was always involved, sometimes being the only one involved (JPGN 2004;38:204). The aim of this study was to enlarge the paediatric series in order to evaluate the presence of duodenal bulb lesions in a statistically significant number of cases. Methods: We studied 379 coeliac children and adolescents (144 males, range 10 mos-18 yrs) at the diagnosis, on a gluten-containing diet, and 350 gastroenterological controls aged and sex matched, affected by gastroesophageal reflux disease or abdominal pain These patients have been enrolled from five Italian paediatric departments. Upper endoscopy with multiple biopsies (one bulb sample and four distal duodenum samples) was performed. We measured anti-human tissue transglutaminase autoantibodies (anti-tTG Abs) by ELISA and anti-endomysium antibodies (EMA) by immunofluorescence method. Results: In all coeliac children various degree of villous atrophy of the bulbar sample was present; in 9 of them (2.4%) these lesions were limited to the bulb. Patchy villous atrophy was found in 24 cases (6.3%). All coeliac patients were anti-tTG Abs and/or EMA positive. Control subjects showed neither mucosal changes compatible with CD in all the duodenal samples, nor autoantibodies positivity. Conclusions: The demonstration in a large series of CD children that villous atrophy is always present in the bulbar area, sometimes being the only one to be affected, suggests a new reccomandation: for the diagnosis of CD intestinal biopsy should be taken on bulbar area.
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Duodenal bulb
Tissue transglutaminase
Gluten free
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A patient presenting with clinical and biochemical evidence of malabsorption and a small-bowel biopsy pattern of subtotal villous atrophy failed to respond to a gluten-free diet but responded to the adminisstration of corticosteroids. He relapsed after 18 months and then responded again after the addition of azathioprine. The possible mechanism of the villous atrophy and malabsorption is discussed.
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Gluten free
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Villous atrophy
Tissue transglutaminase
Intraepithelial lymphocyte
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