Snapshot A 7-year-old girl is brought in by her parents for poor weight gain and recurrent diarrhea. They have tried eliminating dairy from her diet with no improvement in symptoms. She reports 3-5 loose stools per day for the last 6 months. The condition improves when she fasts and is usually worse when she eats fast food like pizza. On exam, you notice several excoriated areas on the girls arms which she states are very itchy. Introduction Overview chronic autoimmune disorder triggered by an environmental agent (gliadin component of gluten) in genetically predisposed individuals often found in wheat and other grains such as barley and rye often develops in childhood but may develop at any age Epidemiology demographics occurs primarily in Caucasians of northern European ancestry > 1:5,000 in North America Pathogenesis upon exposure to gluten, an abnormal immune response leads to the production of several different autoantibodies that affects different organs leads to the formation of an immune complex in the intestinal mucosa (primarily at the small intestine) presence of the immune complex promotes the aggregation of killer lymphocytes, which cause mucosal damage leads to the loss of villi lining (villous atrophy) and proliferation of crypt cells damage of the villi lining leads to dysfunction in nutrient absorption, leading to malabsorption and anemia Genetics no single genetic marker exists majority of patients have the variant HLA-DQ2 or HLA-DQ8 allele these predisposing HLA risk alleles are necessary but not sufficient to develop celiac disease Associated conditions other autoimmune diseases (e.g., diabetes mellitus type 1) Presentation Symptoms steatorrhea can lead to fat soluble vitamin deficiencies abdominal pain bloating flatulence weight loss/failure to gain weight fatigue some patients are asymptomatic repeated infections (if IgA deficient, common in celiac patients) anaphylaxis if transfused by IgA containing blood products Physical exam abdominal distension pallor mouth ulcers short stature dermatitis herpetiformis pruritic, red, papulo-vesicular lesion commonly on shoulders, elbows, and knees due to IgA deposits in the upper dermis Imaging Dual energy X-ray absorptiometry (DEXA) to identify risk of fracture and need for bone protection medication Studies Serum labs serological antibody testing best initial test anti-tissue transglutaminase (tTg)-IgA antibody anti-endomysial-IgA antibody tests for IgA antibodies, will be negative in those with IgA deficiency for patients with IgA deficiency, deamidated gliadin peptide (DGP) IgG testing is available positive serology requires small bowel biopsy for confirmation of diagnosis CBC, iron studies, folic acid, vitamin B12 to evaluate level of malnutrition/malabsorption HLA testing only useful in ruling out celiac disease Invasive studies upper endoscopy with small bowel biopsy best confirmatory test at least 4 duodenal biopsies are recommended endoscopic features including loss of folds, visible fissures, nodularity, scalloping, and prominent submucosal vascularity histologic features include increased intraepithelial lymphocytes and plasma cells atrophic mucosa with loss of villi enhanced epithelial apoptosis crypt hyperplasia Differential Tropical sprue distinguishing factors responds to antibiotics and associated with travel to the tropics Inflammatory bowel disease distinguishing factors different histological appearance on biopsy Irritable bowel syndrome distinguishing factors will have negative biopsy results Treatment Lifestyle modifications gluten-free diet allows healing of the intestinal mucosa and resolution of all symptoms eliminates the heighted risk of osteoporosis and intestinal cancer dietary supplements Medical treatment steroids or immunosuppressant (e.g., azathioprine) consider in patients with refractory disease dapsone treatment of dermatitis herpetiformis Complications Iron deficiency anemia Osteoporosis Infertility Neurological problems (secondary to malabsorption) Intestinal lymphoma develops in 10-15% of patients
QUESTIONS 1 of 8 1 2 3 4 5 6 7 8 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (M1.GI.15.44) A 35-year-old Caucasian female presents with anemia, malaise, bloating, and diarrhea. Past genetic testing revealed that this patient carries the HLA-DQ2 allele. The physician suspects that the patient's presentation is dietary in cause. Which of the following findings would definitively confirm this diagnosis? QID: 101101 Type & Select Correct Answer 1 CT scan showing inflammation of the small bowel wall 5% (9/164) 2 Biopsy of the duodenum showing atrophy and blunting of villi 90% (147/164) 3 Biopsy of the colon showing epithelial cell apoptosis 1% (2/164) 4 Liver biopsy showing apoptosis of hepatocytes 1% (1/164) 5 Esophageal endoscopy showing lower esophageal metaplasia 1% (1/164) M 2 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 2 Review Tested Concept Review Full Topic (M1.GI.14.5) A 17-year-old male presents to his primary doctor complaining about an extremely itchy rash on his elbows and other extensor surfaces. This rash is shown in Figure A. Given the clinical associations of this rash, what other disease must be considered in this patient? QID: 103798 FIGURES: A Type & Select Correct Answer 1 Crohn disease 8% (14/167) 2 Ulcerative colitis 5% (8/167) 3 Celiac disease 81% (136/167) 4 Juvenile rheumatoid arthritis 1% (2/167) 5 Systemic lupus erythematosis 4% (6/167) M 2 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 3 Review Tested Concept Review Full Topic Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (M1.GI.13.77) A 30-year-old Caucasian female presents with weight loss, pallor, and periodic abdominal discomfort. Physical exam reveals pruritic, red lesions on the patient’s shoulders, elbows, and knees. An endoscopic duodenal biopsy is taken and shown in Figure A. Which of the following diseases is associated with the patient’s condition? QID: 101134 FIGURES: A Type & Select Correct Answer 1 Zollinger-Ellison syndrome 19% (68/352) 2 Hirschsprung’s disease 4% (14/352) 3 Peutz-Jehger’s polyposis 21% (73/352) 4 Hashimoto’s thyroiditis 44% (156/352) 5 Helicobacter pylori infection 9% (33/352) M 4 Question Complexity E Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 4 Review Tested Concept Review Full Topic (M1.GI.13.26) A 22-year-old woman presents to her primary care physician complaining of a red, itchy rash on her elbows and shoulders for 2 months. She has no history of medical problems, and review of systems is positive only for occasional loose stools. She is appropriately prescribed dapsone, which relieves the rash within hours. What is the diagnosis? QID: 104237 Type & Select Correct Answer 1 Candida intertrigo 3% (9/305) 2 Porphyria cutanea tarda 10% (32/305) 3 Systemic lupus erythematousus 5% (16/305) 4 Dermatitis herpetiformis 60% (184/305) 5 Leprosy 15% (47/305) M 2 Question Complexity C Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 4 Review Tested Concept Review Full Topic
All Videos (0) Gastrointestinal | Celiac Disease Gastrointestinal - Celiac Disease Listen Now 19:47 min 5/31/2021 102 plays 4.5 (4)