Most under diagnosed health problem

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Dealing with various presentation of celiac disease and the pathogenesis and presentation and diagnosis and treatment

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Most under diagnosed health problem

  1. 1. Most Under-diagnosed Health Problem?
  2. 2. It is estimated to affect 1 in 100 people worldwide. http://celiac.org/ 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 2
  3. 3. • 2.5 million Americans are undiagnosed and are at risk for long-term health complications. • 1 in 250 Americans estimated rate • Actual diagnosis rate is 1 in 4,700 Americans 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 3
  4. 4. 1 in 250 in Italy 1 in 300 in Ireland 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 4
  5. 5. 0.3% in Germany 2.4% in Finland 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 5
  6. 6. • 1:100-1:310 in India • 1:80-1:251 in Australia 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 6
  7. 7. • 1:87- 1:166 in Middle east • 1:18 - 1:355 in Africa 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 7
  8. 8. • 1:88 -1:262 in Europe • 1:100- 1:200 in North America 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 8
  9. 9. • 1:67 – 1:681 in South America 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 9
  10. 10. Potbelly and muscle wasting in an affected child http://emedicine.medscape.com 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 10
  11. 11. People with a first- degree relative with this disease (parent, child, sibling) have a 1 in 10 risk of developing the same disease. 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 11
  12. 12. Their risk of gastrointestinal cancer increases by a factor of 40 to 100 times over the general population. 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 12
  13. 13. Gastrointestinal carcinoma or lymphoma develops in up to 15 percent of patients with untreated or refractory disease. 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 13
  14. 14. Prof. Dr. Saad S Al Ani Senior Pediatric Consultant Head of Pediatric department Khorfakkan Hospital Sharjah ,UAE saadsalani@aol.com A Glance on Celiac Disease
  15. 15. Q1.Gluten is A. An additive to many foods B. A preservative C. A protein found naturally in certain foods D. A flavoring http://www.webmd.com/digestive-disorders/rm-quiz-live-gluten-free Pretest 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 15
  16. 16. Q2.Which is a symptom of gluten intolerance? A. Poor circulation B. Sore throat C. Diarrhea D. Ringing in the ears http://www.webmd.com/digestive-disorders/rm-quiz-live-gluten-free 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 16
  17. 17. Celiac Disease Timeline: A Glutinous History 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 17
  18. 18. 10,000 years ago The Neolithic agricultural revolution introduced wheat and other cultivated grains to the human diet. Chris Stein/Getty Images http://protomag.com/assets/celiac-disease-timeline-a-glutinous-history 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 18
  19. 19. Wellcome Library Second century A.D. Aretaeus of Cappadocia described a condition called koiliakos (derived from koelia, Greek for abdomen) that caused abdominal pain and diarrhea, referring to patients with the malady as celiacs. http://protomag.com/assets/celiac-disease-timeline-a-glutinous-history 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 19
  20. 20. 1888 British physician Samuel Gee published the first modern description of this ancient affliction, suggesting it was associated with diet. To relieve symptoms, in the 1920s many diets (including all-banana and all- carbohydrate) were introduced. Justin Lightley/Getty Images http://protomag.com/assets/celiac-disease-timeline-a-glutinous-history 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 20
  21. 21. 1940s Dutch physician Willem Karel Dicker's recommendation of a wheat-free diet was supported by the discovery that celiac disease declined during the bread shortages of the Second World War but climbed again after the war. 1952 By studying fecal content, Dicke and his colleagues identified gluten as the trigger for celiac disease, and the gluten-free diet became standard treatment.Pulse Picture Library/CMP Images/ Phototake http://protomag.com/assets/celiac-disease-timeline-a-glutinous-history 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 21
  22. 22. 1956 In London, gastroenterologist Margot Shiner developed the definitive way to diagnose celiac disease: a biopsy based on a specific pattern of damage to the fingerlike villi in the small intestine. ISM/ Phototake http://protomag.com/assets/celiac-disease-timeline-a-glutinous-history 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 22
  23. 23. 1989 Immunologist Ludvig Solid's group from Oslo narrowed down the major genetic risk for celiac disease to two versions of the histocompatibility leukocyte antigen (HLA) molecule. 1997 Gastroenterologist Deltlef Schuppan then at the Free University of Berlin, discovered that the autoantibodies of celiac patients are directed against tissue transglutaminase (an enzyme released from the intestine’s cells when gluten passes into the mucosal layer). He introduced a simple blood-screening test for initial diagnosis. http://protomag.com/assets/celiac-disease-timeline-a-glutinous-history 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 23
  24. 24. 2000 At the University of Maryland, Alessio Fasano discovered zonulin, a molecule he believes increases intestinal permeability and vulnerability to celiac disease. Courtesy of Center for Celiac Research, University of Maryland http://protomag.com/assets/celiac-disease-timeline-a-glutinous-history 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 24
  25. 25. 2010 Clinical trials testing new nondietary therapies for celiac disease are under way, including one to reduce intestinal permeability. http://protomag.com/assets/celiac-disease-timeline-a-glutinous-history Larazotide Acetate 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 25
  26. 26. What is Celiac Disease? Celiac disease is an autoimmune disorder that can occur in genetically predisposed people where the ingestion of gluten leads to damage in the small intestine. http://celiac.org/ 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 26
  27. 27. What is gluten Gluten is a specific type of protein that is found in wheat, rye, and barley. http://www.webmd.com/diet/ss/slideshow-gluten-free-diet 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 27
  28. 28. The Gluten types: • Gliadin (found in wheat gluten) • Secalin (found in rye gluten) • Horedin (found in barley gluten). 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 28 www.waterwereld.nu
  29. 29. Causative factors in Celiac Disease Genetic Predisposition Immune Mediated Disorder Gluten Exposure/ Intolerance Inflammatory Injury of the small Intestine Reduced Absorption of Calcium ,Iron, Vitamin A,D,E,K and Folate Celiac Disease 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 29
  30. 30. Genetic susceptibility to celiac disease The genetic susceptibility to celiac disease is conferred by well-identified haplotypes in the human leukocyte antigen (HLA) class II region (i.e. DR3 or DR5/DR7 or HLA DR4). 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 30 [Best Evidence] Rubio-Tapia A, Kyle RA, Kaplan EL, et al. Increased prevalence and mortality in undiagnosed celiac disease. Gastroenterology. Jul 2009;137(1):88-93.
  31. 31. http://glutenfreeville.com/research/celiac-awareness-day-september-13 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 31
  32. 32. Pathogenesis 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 32
  33. 33. The Clinical presentations Celiac disease (CD) :  May occur without any symptoms Minimally symptomatic celiac disease is probably the most common form of the disease, especially in older children and adults 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 33
  34. 34. 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 34
  35. 35. http://middletownhighschool.wikispaces.com/Emily+Small Early onset osteoporosis Weight loss Constipation Bloating Fatigue Unexplained anemia Irritable bowel syndrome Vitamin deficiencies Abdominal pain Gas Weakness Diarrhea The Face of Celiac Disease 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 35
  36. 36. GI signs and symptoms of Celiac disease 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 36
  37. 37. GI signs and symptoms of Celiac disease in Infants and young children Infants and young children typically present with:  Chronic diarrhea  Anorexia  Abdominal distension  Abdominal pain  Poor weight gain or weight loss  Vomiting 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 37
  38. 38. Celiac crisis Severely affected infants present with a celiac crisis, which is characterized by:  Explosive watery diarrhea  Marked abdominal distension  Dehydration  Hypotension  Lethargy, often with profound electrolyte abnormalities, including severe hypokalemia 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 38
  39. 39. GI signs and symptoms of Celiac disease in older children GI symptoms in older children are typically less evident and include:  Nausea  Recurrent abdominal pain  Bloating  Constipation  Intermittent diarrhea. 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 39
  40. 40. Extraintestinal manifestations of Celiac Disease 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 40
  41. 41. Dermatitis Herpetiformis 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 41
  42. 42. 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 42 http://www.uiowa.edu/~c090247/ENAMEL_HYPOPLASIA.pdf Dental Enamel Hypoplasia
  43. 43. Aphthous Ulcers 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 43 en.wikipedia.org/wiki/Mouth_ulcer
  44. 44. Iron-deficiency anemia 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 44
  45. 45. Short stature and delayed puberty 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 45
  46. 46. Chronic hepatitis and hypertransaminasemia 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 46
  47. 47. Arthritis and arthralgia 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 47
  48. 48. Osteopenia and osteoporosis 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 48
  49. 49. Neurological problems Occipital calcifications and intractable epilepsy 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 49 Gluten-induced ataxia
  50. 50. Psychiatric disorders 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 50 Some people with celiac experience: • Depression • Irritability • Poor memory • Trouble concentrating.
  51. 51. Subfertility or infertility 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 51
  52. 52. Prevalence of Celiac disease symptoms 15% http://celiacdisease1.wordpress.com 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 52
  53. 53. 12% 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 53
  54. 54. 9% 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 54
  55. 55. 9% 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 55
  56. 56. 8% 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 56
  57. 57. 8% 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 57
  58. 58. 5% 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 58
  59. 59. 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 59
  60. 60. 3% 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 60
  61. 61. 25% 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 61
  62. 62. Associated diseases 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 62
  63. 63. 1.Autoimmune conditions  Type 1 diabetes mellitus Approximately 10% of patients have typical findings of celiac disease on duodenal biopsy samples.  Thyroiditis  Alopecia 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 63
  64. 64. 2. Genetic syndromes  Down syndrome  The prevalence of Down syndrome in celiac disease is 8-12%. Most patients with Down syndrome who have celiac disease have some GI symptoms  About one third of these patients do not have GI symptoms 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 64
  65. 65. 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 65 2. Genetic syndromes (Cont.)  Turner syndrome  Williams syndrome
  66. 66. Diagnosis • Serologic tests IgA anti-TTG2 (Sensitivity :61-100% , Specificity :86-100%) Some 10% of patients whose disease is diagnosed earlier than 2 yr of age show absence of IgA anti-TTG2. 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 66
  67. 67. Cont. • Ultimate diagnosis via biopsy that demonstrates specific, though not pathognomonic, histopathologic abnormalities in the small bowel mucosa 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 67
  68. 68. Different grades of small intestinal damage in Celiac disease 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 68
  69. 69. Treatment • Lifelong strict adherence to a gluten-free diet is the only treatment yet • Wheat-, barley-, and rye-free diet. • All celiac disease patients should be treated with a gluten-free diet regardless of the presence of symptoms 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 69
  70. 70. 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 70
  71. 71. Complication • Lymphoma is the most common GI malignancy in the pediatric population • Predisposing conditions include: - HIV/AIDS - Agammaglobulinemia - Long-standing celiac disease 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 71
  72. 72. Some of the researches concerning celiac disease during the early2014 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 72
  73. 73. BMC Gastroenterol. 2014 Feb 13;14:28. Follow-up of pediatric celiac disease: value of antibodies in predicting mucosal healing, a prospective cohort study. Vécsei E, Steinwendner S, Kogler H, Innerhofer A, Hammer K, Haas OA, Amann G, Chott A, Vogelsang H, Schoenlechner R, Huf W, Vécsei A1. BMC Gastroenterol. 2014 Feb 13;14:28. doi: 10.1186/1471-230X-14-28. Follow-up of pediatric celiac disease: value of antibodies in predicting mucosal healing, a prospective cohort study. Vécsei E, Steinwendner S, Kogler H, Innerhofer A, Hammer K, Haas OA, Amann G, Chott A, Vogelsang H, Schoenlechner R, Huf W, Vécsei A1. Abstract BACKGROUND: In diagnosing celiac disease (CD), serological tests are highly valuable. However, their role in following up children with CD after prescription of a gluten-free diet is unclear. This study aimed to compare the performance of antibody tests in predicting small-intestinal mucosal status in diagnosis vs. follow-up of pediatric CD. METHODS: We conducted a prospective cohort study at a tertiary-care center. 148 children underwent esophohagogastroduodenoscopy with biopsies either for symptoms ± positive CD antibodies (group A; n = 95) or following up CD diagnosed ≥ 1 year before study enrollment (group B; n = 53). Using biopsy (Marsh ≥ 2) as the criterion standard, areas under ROC curves (AUCs) and likelihood-ratios were calculated to estimate the performance of antibody tests against tissue transglutaminase (TG2), deamidated gliadin peptide (DGP) and endomysium (EMA). RESULTS: AUCs were higher when tests were used for CD diagnosis vs. follow-up: 1 vs. 0.86 (P = 0.100) for TG2-IgA, 0.85 vs. 0.74 (P = 0.421) for TG2-IgG, 0.97 vs. 0.61 (P = 0.004) for DPG-IgA, and 0.99 vs. 0.88 (P = 0.053) for DPG-IgG, respectively. Empirical power was 85% for the DPG-IgA comparison, and on average 33% (range 13-43) for the non-significant comparisons. Among group B children, 88.7% showed mucosal healing (median 2.2 years after primary diagnosis). Only the negative likelihood-ratio of EMA was low enough (0.097) to effectively rule out persistent mucosal injury. However, out of 12 EMA-positive children with mucosal healing, 9 subsequently turned EMA-negative. CONCLUSIONS: Among the CD antibodies examined, negative EMA most reliably predict mucosal healing. In general, however, antibody tests, especially DPG-IgA, are of limited value in predicting the mucosal status in the early years post-diagnosis but may be sufficient after a longer period of time. CONCLUSIONS: Negative endomysium (EMA) antibodies most reliably predict mucosal healing 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 73
  74. 74. Childs Nerv Syst. 2014 Feb 25. Prevalence of resistant occipital lobe epilepsy associated with celiac disease in children. Dai AI1, Akcali A, Varan C, Demiryürek AT. Childs Nerv Syst. 2014 Feb 25. [Epub ahead of print] Prevalence of resistant occipital lobe epilepsy associated with celiac disease in children. Dai AI1, Akcali A, Varan C, Demiryürek AT. Abstract PURPOSE: Celiac disease (CD) is a chronic, inflammatory autoimmune disorder caused by intolerance to ingested gluten. Increased frequency of CD has been reported in occipital lobe epilepsy. The aim of the present study is to investigate the frequency of CD among children followed up due to epilepsy and diagnosed with epileptic activity in the occipital lobe in at least one electroencephalography (EEG) test. METHODS: For this research, 90 pediatric epilepsy patients with epileptic activity in the occipital lobe were enrolled in the study group, while the control group comprised of 100 healthy children. In addition to the EEG examination, tissue transglutaminase (tTG) antibody was determined on duodenal biopsy. RESULTS: None of the healthy children in the control group was positive in terms of the tTG antibody test used to scan CD. In the group with epileptic activity in the occipital lobe, two patients out of 90 were tTG antibody positive. The seroprevalence was 1/45 (2.22 %) in this group. These two patients were diagnosed with CD based on the endoscopic duodenal biopsy. In these patients, the seizures were uncontrollable through monotherapy. CONCLUSIONS: Our results showed that the prevalence of CD is observed to be higher than the normal population among the patients with occipital lobe epilepsy. This type of seizure disorder seems to be more resistant to monotherapy, compared with other types of occipital epilepsy. Therefore, screening for CD is recommended in children with resistant epileptic activity in the occipital lobe. CONCLUSIONS: Screening for CD is recommended in children with resistant epileptic activity in the occipital lobe 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 74
  75. 75. Autoimmune Dis. 2014;2014:927190. 2014 Mar 3. Exploring T cell reactivity to gliadin in young children with newly diagnosed celiac disease. Liu E1, McDaniel K1, Case S1, Yu L1, Gerhartz B2, Ostermann N2, Fankhauser G2, Hungerford V2, Zou C2, Luyten M2, Seidl KJ2, Michels AW1. Autoimmune Dis. 2014;2014:927190. 2014 Mar 3. Exploring T cell reactivity to gliadin in young children with newly diagnosed celiac disease. Liu E1, McDaniel K1, Case S1, Yu L1, Gerhartz B2, Ostermann N2, Fankhauser G2, Hungerford V2, Zou C2, Luyten M2, Seidl KJ2, Michels AW1. Abstract Class II major histocompatibility molecules confer disease risk in Celiac disease (CD) by presenting gliadin peptides to CD4 T cells in the small intestine. Deamidation of gliadin peptides by tissue transglutaminase creates immunogenic peptides presented by HLA-DQ2 and DQ8 molecules to activate proinflammatory CD4 T cells. Detecting gliadin specific T cell responses from the peripheral blood has been challenging due to low circulating frequencies and heterogeneity in response to gliadin epitopes. We investigated the peripheral T cell responses to alpha and gamma gliadin epitopes in young children with newly diagnosed and untreated CD. Using peptide/MHC recombinant protein constructs, we are able to robustly stimulate CD4 T cell clones previously derived from intestinal biopsies of CD patients. These recombinant proteins and a panel of α- and γ-gliadin peptides were used to assess T cell responses from the peripheral blood. Proliferation assays using peripheral blood mononuclear cells revealed more CD4 T cell responses to α-gliadin than γ-gliadin peptides with a single deamidated α-gliadin peptide able to identify 60% of CD children. We conclude that it is possible to detect T cell responses without a gluten challenge or in vitro stimulus other than antigen, when measuring proliferative responses. Possible to detect T cell responses without a gluten challenge or in vitro stimulus other than antigen 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 75
  76. 76. PLoS One. 2014 Mar 4;9(3):e90552. Coeliac patients are undiagnosed at routine upper endoscopy. Robson K1, Alizart M1, Martin J2, Nagel R3. PLoS One. 2014 Mar 4;9(3):e90552. doi: 10.1371/journal.pone.0090552. eCollection 2014. Coeliac patients are undiagnosed at routine upper endoscopy. Robson K1, Alizart M1, Martin J2, Nagel R3. Abstract BACKGROUND AND AIMS: Two out of three patients with Coeliac Disease (CD) in Australia are undiagnosed. This prospective clinical audit aimed to determine how many CD patients would be undiagnosed if duodenal biopsy had only been performed if the mucosa looked abnormal or the patient presented with typical CD symptoms. METHODS: All eligible patients presenting for upper gastrointestinal endoscopy (OGD) in a regional center from 2004-2009 underwent prospective analysis of presenting symptoms and duodenal biopsy. Clinical presentations were defined as either Major (diarrhea, weight loss, iron deficiency, CD family history or positive celiac antibodies- Ab) or Minor Clinical Indicators (CI) to duodenal biopsy (atypical symptoms). Newly diagnosed CD patients had follow up celiac antibody testing. RESULTS: Thirty-five (1.4%) new cases of CD were identified in the 2,559 patients biopsied at upper endoscopy. Almost a quarter (23%) of cases presented with atypical symptoms. There was an inverse relationship between presentation with Major CI's and increasing age (<16, 16-59 and >60: 100%, 81% and 50% respectively, p = 0.03); 28% of newly diagnosed CD patients were aged over 60 years. Endoscopic appearance was a useful diagnostic tool in only 51% (18/35) of CD patients. Coeliac antibodies were positive in 34/35 CD patients (sensitivity 97%). CONCLUSIONS: Almost one quarter of new cases of CD presented with atypical symptoms and half of the new cases had unremarkable duodenal mucosa. At least 10% of new cases of celiac disease are likely to be undiagnosed at routine upper endoscopy, particularly patients over 60 years who more commonly present atypically. All new CD patients could be identified in this study by performing pre-operative celiac antibody testing on all patients presenting for OGD and proceeding to biopsy only positive antibody patients and those presenting with either Major CI or abnormal duodenal mucosa for an estimated cost of AUS$4,629 and AUS$3,710 respectively. CONCLUSIONS: • One quarter of new cases of CD presented with atypical symptoms • Half of the new cases had unremarkable duodenal mucosa • 10% of new cases of celiac disease are likely to be undiagnosed at routine upper endoscopy 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 76
  77. 77. J Pediatr Gastroenterol Nutr. 2014 Mar 31. Mucosal Healing in Children With Treated Celiac Disease. Ghazzawi Y1, Tapia AR, Murray JA, Absah I. J Pediatr Gastroenterol Nutr. 2014 Mar 31. [Epub ahead of print] Mucosal Healing in Children With Treated Celiac Disease. Ghazzawi Y1, Tapia AR, Murray JA, Absah I. Abstract OBJECTIVES:: Limited data suggest complete mucosal healing in treated children with celiac disease (CD), but recent data from adult endoscopic biopsies have shown substantial numbers with persistent mucosal injury. We aimed to assess the rate of mucosal healing and indications for repeat small-bowel (SB) biopsy in children with CD. METHODS:: We retrospectively reviewed records of children (age 1-18 years) with CD who underwent a second SB biopsy. All were seen at Mayo Clinic (Rochester, Minnesota) from January 1997 through June 2013. RESULTS:: Forty children were identified (14 male); average age at diagnosis was 8.5 years. Indications for second small bowel (SB) biopsy were abdominal pain (n = 20), diarrhea (n = 7), constipation (n = 5), non-celiac-related concern (n = 2), follow-up (n = 5), and persistent serology (n = 1). Average time between biopsies was 24 months (range, 4-120 months). Histology on the second biopsy showed complete healing (n = 25), intraepithelial lymphocytes (n = 9), and persistent villous atrophy (n = 6). Of these 3 patients with partial villous atrophy, and 3 with complete villous atrophy. Persistent villous atrophy was observed in 2/20 patients with abdominal pain and 1/7 with diarrhea. All patients with persistent constipation (n = 5) had complete resolution. CONCLUSION:: Mucosal healing in children with CD may not be complete as previously assumed. Abdominal pain was the most common indication for repeating the SB biopsy. Persistence of abdominal pain, diarrhea and constipation was poorly associated with persistence of mucosal injury. CONCLUSION: Persistence of abdominal pain ,diarrhea and constipation poorly associated with persistence of mucosal injury 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 77
  78. 78. Aliment Pharmacol Ther. 2014 Mar 24 The effects of oats on the function of gut microflora in children with coeliac disease. Tjellström B1, Stenhammar L, Sundqvist T, Fälth-Magnusson K, Hollén E, Magnusson KE, Norin E, Midtvedt T, Högberg L. Aliment Pharmacol Ther. 2014 Mar 24. doi: 10.1111/apt.12707. [Epub ahead of print] The effects of oats on the function of gut microflora in children with coeliac disease. Tjellström B1, Stenhammar L, Sundqvist T, Fälth-Magnusson K, Hollén E, Magnusson KE, Norin E, Midtvedt T, Högberg L. Abstract BACKGROUND: Faecal short chain fatty acids (SCFAs) are produced by the gut microflora. We have previously reported high faecal SCFA levels in children with coeliac disease (CD), indicating alteration in gut microfloral metabolism. Data accumulated over recent decades by us and others suggest that wheat-free oats can safely be included in a gluten-free diet (GFD). However, concerns have been raised with respect to the safety of oats in a subset of coeliacs. AIM: To describe faecal SCFA patterns in children with newly diagnosed CD treated for 1 year with a GFD with or without oats. METHODS: This report is part of a randomised, double-blind study on the effect of a GFD containing oats (GFD-oats) vs. a standard GFD (GFD-std). Faecal samples were received from 34 children in the GFD-oats group and 37 in the GFD-std group at initial diagnosis and/or after 1 year on a GFD. Faecal SCFAs were analysed. RESULTS: The GFD-std group had a significantly lower total faecal SCFA concentration at 12 months compared with 0 months (P < 0.05). In contrast, total SCFA in the GFD-oats group remained high after 1 year on the GFD. The children in the GFD-oats group had significantly higher acetic acid (P < 0.05), n-butyric acid (P < 0.05) and total SCFA concentration (P < 0.01) after 1-year diet treatment compared to the GFD-std group. CONCLUSIONS: Our results indicate that oats do affect the gut microflora function, and that some coeliac children receiving oats may develop gut mucosal inflammation, that may present a risk for future complications. Oats do affect the gut microflora function 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 78
  79. 79. Dig Dis Sci. 2014 Apr 6. Clinical Utility of Celiac Disease-Associated HLA Testing. Pallav K1, Kabbani T, Tariq S, Vanga R, Kelly CP, Leffler DA. Dig Dis Sci. 2014 Apr 6. Clinical Utility of Celiac Disease-Associated HLA Testing. Pallav K1, Kabbani T, Tariq S, Vanga R, Kelly CP, Leffler DA. Abstract BACKGROUND: Negative predictive value (NPV) of celiac disease (CD)-related human leukocyte antigens (HLA) DQ2 and DQ8 approaches 100 % in individual patients. However, studies evaluating its exclusionary utility in patient groups are lacking. AIM: We aim to assess the performance of HLA testing when applied to patient groups with varying characteristics and propose evidence-based recommendations for its clinical use. METHODS: Demographic and clinical information was recorded in patients undergoing HLA testing. Using predetermined criteria, patients were classified as CD, non-CD, or indeterminate. Diagnostic yield of HLA testing was defined as the percentage of patients in whom CD could be excluded based on negative HLA test. RESULTS: Two hundred and fifty-six patients underwent testing for CD-related HLA DQ2 and DQ8. 102 (100 non-CD, 2 CD) patients tested HLA negative for a 98 % NPV and 39 % diagnostic yield. Diagnostic yield was highest (60 %) in patients with intraepithelial lymphocytosis plus normal IgA tissue transglutaminase antibody (IgA-tTG) and lowest in patients with positive IgA-tTG plus villous atrophy (0 %). CD was diagnosed in two HLA-negative patients, who carried half of DQ2.5 trans genotype. CONCLUSIONS: Diagnostic yield of CD-related HLA testing varies widely depending on clinical indication. HLA testing is a practical and valuable test for most patients in whom initial evaluation for CD is inconclusive. A negative HLA result usually obviates the need for further celiac testing including endoscopy and gluten challenge. Rarely, in patients reported as HLA negative, half of HLA DQ2.5 (cis or trans) is sufficient for development of CD. CONCLUSIONS: A negative HLA result usually obviates the need for further celiac testing including endoscopy and gluten challenge 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 79
  80. 80. Pediatr Neurol. 2014 May;50(5):479-81. Prevalence of celiac disease in children with idiopathic epilepsy in southeast Turkey. Işıkay S1, Kocamaz H2. Pediatr Neurol. 2014 May;50(5):479-81. doi: 10.1016/j.pediatrneurol.2014.01.021. Epub 2014 Jan 11. Prevalence of celiac disease in children with idiopathic epilepsy in southeast Turkey. Işıkay S1, Kocamaz H2. Abstract BACKGROUND: We examined the prevalence of celiac disease in children with idiopathic epilepsy. METHODS: Patients were screened for celiac disease using the immunoglobulin A anti-tissue transglutaminase antibody. Upper gastrointestinal endoscopy and small intestinal biopsy were offered to all antibody-positive patients. The control group consisted of 400 healthy children. RESULTS: A total of 600 patients (332 boys, 268 girls; 8 months-15 years; 9.40 ± 4.09 years) were studied. In 38 patients, the diagnosis was childhood partial epilepsy with occipital paroxysms. Six of the 38 patients with childhood partial epilepsy with occipital paroxysms (15.7%) had positive immunoglobulin A anti-tissue transglutaminase antibody. The frequency of biopsy-proven celiac disease was 15.7% (6/38) among children with childhood partial epilepsy with occipital paroxysms. None of the control patients had positive immunoglobulin A anti-tissue transglutaminase antibody results. CONCLUSIONS: These findings suggest that the prevalence of celiac disease in children with partial epilepsy with occipital paroxysms may be higher than with other types of epilepsies. It may be reasonable to screen individuals with this type of epilepsy for celiac disease. CONCLUSIONS: Prevalence of celiac disease in children with partial epilepsy with occipital paroxysms may be higher than with other types of epilepsies To screen individuals with this type of epilepsy for celiac disease. 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 80
  81. 81. Conclusion Ratio between patients with diagnosed and with undiagnosed disease may be as high as 1 : 7 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 81
  82. 82. Case finding by liberal use of anti- endomysium or anti-TTG2 antibodies, followed by confirmatory jejunal biopsy, is more cost effective in primary care than mass screening . 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 82
  83. 83. The diagnosis of celiac disease involves: 1. Serologic testing (generally for IgA anti–tissue transglutaminase antibodies) 2. Upper endoscopy with biopsy for confirmation in most patients 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 83
  84. 84. Patients with celiac disease should follow a lifelong, strict gluten-free diet. 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 84
  85. 85. Monitoring with periodic visits for assessment of : - Symptoms - Growth - Physical examination - Adherence to the gluten-free diet. 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 85
  86. 86. Q1.Gluten is A. An additive to many foods B. A preservative C. A protein found naturally in certain foods D. A flavoring http://www.webmd.com/digestive-disorders/rm-quiz-live-gluten-free Pretest 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 86
  87. 87. Q2.Which is a symptom of gluten intolerance? A. Poor circulation B. Sore throat C. Diarrhea D. Ringing in the ears http://www.webmd.com/digestive-disorders/rm-quiz-live-gluten-free 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 87
  88. 88. 5/20/2014 A Glance on Celiac Disease Prof.Dr. Saad S Al Ani 88

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