Celiac Disease Diagnosis and Management
SUMMARY:
Celiac disease (CD) is an immune-mediated multisystem disorder that affects roughly 1% of the American population and is the result of an abnormal response to gluten present in wheat, barley and rye. CD, also known as gluten-sensitive enteropathy, often begins as an inflammatory response to gluten in the small intestine. The incidence of CD has been rising in the past few decades due to increased awareness and screening. Despite this, patient symptoms and presentation can be vague and wide-ranging, often leading to a delay in diagnosis and appropriate treatment. The cornerstone of treatment for CD is a gluten free diet (GFD) which helps most patients achieve disease remission when continued indefinitely.
Presentation
- Celiac disease can develop at any age, including in both pediatric and geriatric populations
- Most patients develop CD as children (e.g., before the age of 10)
- Geriatric cases are likely due to de novo development of gluten sensitivity
- Incidence is higher in: Women | Patients with DM1 | Patients with Down syndrome/Turner syndrome | Non-Hispanic White patients | Patients with a family history of CD
- Epidemiology studies are limited by: Underdiagnosis | Asymptomatic and minimally symptomatic patients
- Signs and symptoms include
- Diarrhea | Bloating | Weight loss | Abdominal pain | Malabsorptive symptoms (e.g., Anemia | Vitamin deficiencies | Steatorrhea)
- Unexplained lab abnormalities (e.g., Elevated ALT | Iron deficiency anemia)
- Extraintestinal symptoms: Dermatitis Herpetiformis | Fatigue | Reduced fertility | Premature osteoporosis | Persistent aphthous stomatitis | Epilepsy | Ataxia | Recurrent headaches/migraines | “Brain fog” | Recurrent pancreatitis
- Differential Diagnosis
- Lactose intolerance | IBD | IBS | Small bowel bacterial overgrowth | Eosinophilic enteritis | Microscopic colitis | Food intolerances
- Other enteropathies: CVID | Tropical Sprue | Autoimmune enteropathy | Olmesartan-induced enteropathy
Diagnosis
Serologic antibody testing
- Used as the initial screening for patients presenting with symptoms concerning for CD
- Consider serologic screening in asymptomatic patients who have a 1st degree relative who has confirmed CD diagnosis
- Tissue transglutaminase (TTG)-IgA antibody (TTG)
- First line serologic test
- Should be done while patient is on a gluten containing diet
- Check IgA levels concurrently
- If TTG is elevated, patient should proceed with EGD + duodenal biopsy for pathologic confirmation
- Negative TTG AND normal IgA levels adequately rules out CD in patients with low to moderate pretest probability
- In patients with high a pretest probability, negative TTG does not rule out CD, and they should proceed with EGD and biopsies
- Endomysial antibody (EMA)
- Can be used in combination with TTG to diagnose symptomatic adults with CD if they are unwilling or unable to undergo EGD
- Positive EMA and TTG testing > 10x upper limit of normal can reliably diagnosis CD
- CD-compatible human leukocyte antigen (HLA) haplotype (HLA DQ2/DQ8)
- Useful in patients who have already started a gluten free diet
- If negative effectively rules out CD
- If positive, patients should undergo a gluten challenge, with follow up TTG serologic testing if gluten intake is poorly tolerated
Endoscopy
- EGD with duodenal biopsy is required for confirmatory diagnosis of CD
- Multiple duodenal biopsies needed (e.g, 1 to 2 from bulb | ≥ 4 from distal duodenum)
- Pathologic abnormalities due to CD can be patchy and lead to missed diagnosis if < 4 biopsies are taken during EGD
- Pathology demonstrating lymphocytic infiltration (≥ 25 intraepithelial lymphocytes per 100 epithelial cells) is not specific to CD and should prompt further work up
- Other disorders that demonstrate lymphocytic duodenitis include: H pylori infection | NSAID use | Small bowel bacterial overgrowth | non-celiac gluten sensitivity
Treatment
- Gluten Free Diet (GFD)
- The ONLY effective therapy for CD
- Includes the avoidance of all wheat, barley and rye intake
- Oats are generally well tolerated in patients with CD, but may be immunogenic in a subset of patients
- Patients should notice an improvement in symptoms within days of changing their diets
- At time of diagnosis patient should also be referred to a dietitian and given information for CD support groups
- Continued follow up with a dietitian may be helpful to reinforce GFD adherence
- Providers should set a treatment goal with patients based on individual discussions
- ACG recommends a goal of intestinal healing to reduce: Long term mortality | Cancer risk | Osteoporosis development
- Intestinal healing does not correlate with serology or symptoms (i.e., asymptomatic patients may have persistent lymphocytic infiltration on biopsy)
- In one study, the median time from the onset of GFD to mucosal healing was 3 years
- There is insufficient evidence to recommend for or against the use of probiotics in CD though studies are ongoing
Refractory CD (RCD)
- Makes up less than 1% of cases and requires GI referral
- Diagnosed in patients with ongoing symptoms and intestinal villous atrophy despite strict adherence to GFD for ≥ 12 months
- Treatment options include: Budesonide | Prednisone | Biologics | Immunomodulators | Mesalamine | Stem cell transplantation (for a specific and rare RCD subtype)
Follow Up
- Initial follow up should occur within 3 to 6 months of diagnosis
- Review symptoms and diet adherence
- Repeat serologic testing
- Monitor individualized labs (e.g., CBC | ALT/AST | Vitamins A | Vitamin D | Vitamin D | Vitamin B12 | Copper | Zinc | Ferritin | Iron | Folic acid)
- Consider testing of 1st degree family members
- Administer appropriate vaccinations (e.g., pneumococcal vaccination when indicated)
- Follow up after the initial follow up visit can be spaced out to every 6 to 12 months
- For patients non-responsive to a GFD
- Refer to dietitian to ensure good adherence to GFD
- Confirm accuracy of the initial CD diagnosis
- If adherence is confirmed, then consider work up for other causes of non-responsive CD (see differential diagnosis above)
- Gluten detection technologies are not currently recommended to monitor for adherence to a GFD
- Endoscopy with biopsies
- Can be used for monitoring in patients who lack clinical improvement or have symptomatic relapse while on GFD
- Should be done to assess mucosal healing in asymptomatic adults 2 years after starting a GFD
KEY POINTS:
- Celiac disease is a common immune-mediate systemic disorder that develops as an abnormal inflammatory response to gluten found in wheat, barley and rye
- The diagnosis of CD depends on serologic antibody testing and duodenal biopsies
- Treatment for CD depends on the lifelong avoidance of gluten, which when successful, can achieve disease remission in most patients with CD
- EGD should be repeated 2 years after initiation of a GFD to evaluate for disease remission and intestinal healing
Learn More – Primary Sources
American College of Gastroenterology Guidelines: Diagnosis and Management of Celiac Disease
AGA: Epidemiology, Presentation, and Diagnosis of Celiac Disease
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