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Celiac sprue (nontropical sprue)                        See Celiac Disease 2007  | celilacdisease2007.pdf

A disorder with gluten sensitive enteropathy.

Symptoms: weight loss, chronic diarrhea, malabsorption, abdominal distention, bloating, fatigue, anemia, usually of megaloblastic type, intermittent diarrhea, etc.

DX:
Current guideliness suggeset that anyone with chronic diarrhea, malabsorption (abnormal xylose absorption test, 72 hr stool fat test), weight loss, & persistent abdominal distention should be tested.

All lab testing must be done while the patient is on a gluten-containing diet.

• Tissue transglutaminase antibodies
• Serum Endomysial antibodies
• The antigliadin antibody test is no longer recommended due to its low sensitivity & specificity.
• Duodenal endoscopy, biopsy if positive serlogic tests or if you still strongly suspect celiac disease even though the serologic tests were nondiagnostic.
• Genetic testing for HLA-DQ2 & HLA-DQ8 alleles.

RX:

1. Removal of gluten from the diet (as wheat, barley, oats, rye in the bread & flours, also in beer, vodka, whiskey, ale, etc.)
2. A trial of prednisone 20 40 mg or ACTH 20 40 units/d may be given in pts refractory to diet Rx alone.

         2007

Prevalence of Celiac Disease among Children in Finland
Conclusions:  The presence of serum tissue transglutaminase and endomysial autoantibodies is predictive of small-bowel abnormalities indicative of celiac disease. There is a good correlation between autoantibody positivity and specific HLA haplotypes. We estimate that the prevalence of celiac disease among Finnish schoolchildren is at least 1 case in 99 children.  N Engl J Med  June 19, 2003, 348: 2517  

Accuracy of Serologic Tests and HLA-DQ Typing for Diagnosing Celiac Disease   |  See  Editorial
Annals of Int Med 4 September 2007 | Volume 147 Issue 5 | Pages 294-302

Results: Sixteen of 463 participants had celiac disease (prevalence, 3.46% [95% CI, 1.99% to 5.55%]). A positive result on both TGA and EMA testing had a sensitivity of 81% (CI, 54% to 95.9%), specificity of 99.3% (CI, 98.0% to 99.9%), and negative predictive value of 99.3% (CI, 98.0% to 99.9%).
Testing positive for either HLA-DQ type maximized sensitivity (100% [CI, 79% to 100%]) and negative predictive value (100% [CI, 98.6% to 100%]), whereas testing negative for both minimized the negative likelihood ratio (0.00 [CI, 0.00 to 0.40]) and posttest probability (0% [CI, 0% to 1.4%]). The addition of HLA-DQ typing to TGA and EMA testing, and the addition of serologic testing to HLA-DQ typing, did not change test performance compared with either testing strategy alone.

Conclusions: In a patient population referred for symptoms and signs of celiac disease with a prevalence of celiac disease of 3.46%, antitransglutaminase antibodies [TGA] and antiendomysium antibodies [EMA] testing were the most sensitive serum antibody tests and a negative HLA-DQ type excluded the diagnosis. However, the addition of HLA-DQ typing to TGA and EMA testing, and the addition of serologic testing to HLA-DQ typing, provided the same measures of test performance as either testing strategy alone.