Celiac Disease
By:Lianne Beck, MD
Assistant Professor
Emory Family Medicine
Celiac disease
* Autoimmune disorder with a prevalence of approximately 0.5 to 1 percent in the United States. (1 in every 100-200 persons)
* Inappropriate immune response to the dietary protein gluten, which is found in rye, wheat, and barley.
* After absorption in the small intestine these proteins interact with the antigen-presenting cells in the lamina propria causing an inflammatory reaction that targets the mucosa of the small intestine.
* Manifestations range from no symptoms to overt malabsorption with involvement of multiple organ systems and an increased risk of some malignancies.
* Most all patients with celiac disease express human leukocyte antigen (HLA)-DQ2 or HLA-DQ8, which facilitate the immune response against gluten proteins
* Concordance rates of 70 to 75 % among monozygotic twins and 5 to 22 % among first-degree relatives.
Risk Factors for Celiac Disease
Dermatitis Herpetiformis
Signs and Symptoms
* Common
o Diarrhea
o Fatigue
o Borborygmus
o Abdominal pain
o Weight loss
o Abdominal distention
o Flatulence
* Uncommon
o Osteopenia/ osteoporosis
o Abnormal liver function
o Vomiting
o Iron-deficiency anemia
o Neurologic dysfunction
o Constipation
o Nausea
Differential Diagnosis of Celiac Disease
* Anorexia nervosa
* Autoimmune enteropathy
* Bacterial overgrowth
* Collagenous sprue
* Crohn's disease
* Giardiasis
* Human immunodeficiency
virus enteropathy
* Hypogammaglobulinemia
* Infective gastroenteritis
* Intestinal lymphoma
* Irritable bowel syndrome
* Ischemic enteritis
* Lactose intolerance
* Pancreatic insufficiency
* Soy protein intolerance
* Tropical sprue
* Tuberculosis
* Whipple's disease
* Zollinger-Ellison syndrome
* Consider testing in symptomatic patients at high risk for celiac disease with any of the following conditions:
o Autoimmune hepatitis
o Down syndrome
o Premature onset of osteoporosis
o Primary biliary cirrhosis
o Unexplained elevations in liver transaminase levels
o Unexplained iron deficiency anemia
Test selectively as part of the medical evaluation when symptoms could be secondary to celiac disease:
o Autoimmune thyroid disease
o Cerebellar ataxia
o First- or second-degree relative with celiac disease
o Irritable bowel syndrome
o Peripheral neuropathy
o Recurrent migraine
o Selective immunoglobulin A deficiency
o Short stature (in children)
o Sjögren's syndrome
o Turner's syndrome
o Type 1 diabetes mellitus
o Unexplained delayed puberty
o Unexplained recurrent fetal loss
SEROLOGY
* Serum immunoglobulin A (IgA) endomysial antibodies and IgA tissue transglutaminase (tTG) antibodies. Sensitivity and specificity > 95%.
* Testing for gliadin antibodies is no longer recommended because of the low sensitivity and specificity for celiac disease.
* The tTG antibody test is less costly because it uses an enzyme-linked immunosorbent assay; it is the recommended single serologic test for celiac disease screening in the primary care setting.
* When the prevalence is low, as in the general U.S. population, the risk of a false-positive result is high even with an accurate test . PPV 49.7%, NPV 99.9%
* Confirmatory testing, including small bowel biopsy, is advised.
SMALL BOWEL BIOPSY
Normal small intestine
Villous atrophy
Normal villi
Patient presents with symptoms of celiac disease
Perform serologic IgA tTG antibody testing
High clinical suspicion?
Low probability of celiac
Evaluation for Celiac Disease
Treatment
COMORBIDITIES
Follow-up
Screening
SORT: KEY RECOMMENDATIONS FOR PRACTICE
Key clinical recommendation Evidence rating
Quiz
Reference
Celiac Disease.ppt
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