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Signs/sx/labs suggesting malabsorption or CD (chronic diarrhea, wt ↓, steatorrhea, postprandial abdo pain/bloat, IBS, T1DM w/ GI sx, ↑ liver enzymes, Fe-deficiency, premature osteoporosis, dermatitis herpetiformis, thyroid dz, etc) In pts w/ s/sx/labs suggestive of malabsorption or CD,1,2 detection of CD-specific antibodies useful for initial screening; intestinal bx required in most pts to confirm dx. - EGD w/ multiple duodenal biopsies3 is recommended for confirming dx in children and adults w/ suspicion of CD [S/M].
- In children or symptomatic adults unwilling/unable to undergo endoscopy, a combo of high-level TTG-IgA2 (>10x ULN) w/ positive EMA4 in 2nd blood sample is suggested as a reliable test for CD dx [C/M]. Serology should be performed while pt is on a regular (gluten-containing) diet.
- In children <2 yo who aren’t IgA deficient, anti–TTGA-IgA4 is the preferred single test for CD detection [S/M].
- In children w/ IgA deficiency, testing w/ IgG-based antibodies (DGP-IgG or TTG-IgG) is recommended [S/M].
Case finding vs. mass screening for CD detection? - Case finding is recommended to incr CD detection in the community [S/L].5
- Mass screening isn’t recommended [S/L].
Footnotes 1 Common conditions to consider testing for CD: malabsorption, diarrhea w/ wt↓, chronic diarrhea w/ or w/o abd pain, chronic Fe deficiency and unexplained anemia, metabolic bone dz/premature osteoporosis, postprandial bloat/gas, unexplained wt↓, ↑liver enzymes, incidental villous atrophy, dermatitis herpetiformis, peripheral neuropathy, oral aphthous ulcers, growth failure, discolored teeth/developmentally synchronous enamel loss, thyroid dz, IBS, Down/Turner syndrome, unexplained recurrent pancreatitis.
2 Less common (but treatable) conditions to consider testing for CD: pulmonary hemosiderosis, infertility, dyspepsia, amenorrhea, chronic fatigue, apparent malabsorption of thyroid meds, epilepsy, ataxia, constipation, recurrent abd pain, chronic arthralgia, “brain fog,” recurrent headache/migraine.
3 EGD/duodenal bx:
• Multiple duodenal biopsies (1 or 2 from bulb and 4 from distal duodenum) are necessary for CD dx.
• EGD and duodenal biopsies can aid the DDx of other malabsorptive disorders or enteropathies.
• Lymphocytic duodenosis (≥25 intraepithelial lymphocytes/100 epithelial cells) in absence of villous atrophy isn’t specific to CD; consider other causes.
4 TTG, EMA, DGP testing:
• TTG-IgA and EMA-IgA are reported to be less accurate in children <2 yo.
• Current guidelines recommend both TTG-IgA and DGP-IgG in children <2 yo.
5 Case finding:
• Test for CD in pts w/ s/sx/labs suggestive of malabsorption (e.g., chronic diarrhea w/ wt↓, steatorrhea, abd pain, bloating).
• Consider testing for CD in pts w/ s/sx or lab evidence for which CD is a treatable cause.
• Pts w/ a 1st-degree relative who has confirmed CD should be tested whether they show possible s/sx or lab evidence of CD.
• Consider testing of asymptomatic relatives w/ a 1st-degree family member who has confirmed CD.
No signs/sx/labs suggesting malabsorption/CD manifestations If pt w/o signs/sx/labs suggestive of CD:10,11 consider testing if a relative has confirmed CD - Pts w/ a 1st-degree relative who has confirmed CD should be tested whether they show possible s/sx or lab evidence of CD.
- Consider testing of asymptomatic relatives w/ a 1st-degree family member who has confirmed CD.
Footnotes 10 Conditions occurring more frequently in CD vs gen population: malabsorption, diarrhea w/ weight↓, chronic diarrhea w/ or w/o abdo pain, chronic Fe-def anemia, metabolic bone dz/premature osteoporosis, postprandial bloat/gas, unexplained wt loss, ↑liver enzymes, incidental villous atrophy, dermatitis herpetiformis, peripheral neuropathy, oral aphthous ulcers, growth failure, discolored teeth/developmentally synchronous enamel loss, thyroid dz, IBS, Down/Turner syndrome.
11 Conditions for which CD may be a treatable cause: pulmonary hemosiderosis, unexplained infertility, dyspepsia, amenorrhea, chronic fatigue, apparent malabsorption of thyroid medication, epilepsy, ataxia, constipation, recurrent abdo pain.
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Confirmed CD by serology + bx Adhere to gluten-free diet for life - Strict avoidance of all wheat/barley/rye [S/H]. Pure oats tolerated by most, but introduce w/ caution; monitor rxn [S/M]
- Refer to knowledgeable registered dietician [S/M]
- If newly dx, test/tx nutritional deficiencies: Fe profile, folate, vit D/B12, etc [C/L]; other tests may include CBC, ALT, vit A/E, Cu, Zn, carotene, ferritin, DXA
Monitor regularly for sx, diet adherence, complications [S/M] at 3 to 6 mo and at 1 yr; then annually is reasonable - Monitor diet via hx + serology:12 TTG-IgA or DGP-IgA/IgG [S/M]
- If gluten contamination suspected: consult dietician [S/M]
- Verify normalization of any lab abnormalities [S/M]
- If asymptomatic w/ (-) serology: follow-up bx reasonable in adults after 2 yrs of GFD, as mucosal healing may not occur despite (-) serology/sx
- If sx relapse/lack of response despite GFD: endoscopy w/ bx [S/M]
- If nonresponsive/refractory:13 measure serology and involve dietician [S/H]. Refractory13 pts warrant close monitoring, aggressive nutritional support [S/H]; adjunctive medication should be considered [C/M]
Footnotes 12 Serology expected to decrease from baseline w/in months of strict GFD. If lack of decrease/persistently positive serology @ 1 yr after GFD: consider gluten contamination.
13 Nonresponsive CD = persistent s/sx/labs typical of CD despite 6 to 12 mo gluten avoidance. Refractory CD = persistent/recurrent malabsorptive s/sx with small-intestinal villous atrophy despite strict GFD for >12 mo in absence of other disorders. Small intestinal villous atrophy from other causes (sprue, eosinophilic enteritis, CVID, Crohn, etc) may be misdiagnosed as CD. Refractory CD should be differentiated by presence (Type II) or absence (Type I) of abnormal/clonal intestinal T lymphocytes for management/prognosis purposes [S/M].
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