References.

Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA; American College of Gastroenterology. ACG clinical guidelines: diagnosis and management of celiac disease. Am J Gastroenterol. 2013;108:656-676. Abstract

Celiac Disease in the Differential

1% US population, often under diagnosed .
Weight loss, malnutrition, metabolic deficiencies; associated with cancers.
Differential presentations
-Obvious: diarrhea, malabsorption
-Subtle: bloating,weight loss.low iron
Endocrine consequences; amenorrhea, infertility
Dermatitis herpetiformis
Family history of celiac disease, dyspepsia

Diagnostic testing

Preferred test: IgA anti TTG ( Anti endomyceal antibody)
-if IgA normal: 95% sensitive / specific
-Poor test if IgA -deficient, then check DGP( Deamidated Gluten Peptide or IgG TTG-Tissue Trans Glutaminase )
The HLA-DQ2 and DQ8 genotypes are abnormal in virtually all patients with Celiac disease.
Patients must not be on gluten free diet at the time of testing.

Confirmation

Duodenal biopsy–Crypt hyperplasia, interim epithelial lymphocytes, and villous atrophy.
Number of biopsy samples / sites
– 4 from second and third portions of duodenum
– 1-2 from duodenal bulb ( picks up an additional 9% -13%

Management

Refer toDietician
Vitamin & Micro nutrient deficiencies (Vit D,B12,Folate,Copper,Zinc,Canitine
Avoid classic gluten proteins-Wheat,Rye,Barley, oats if cross contaminated

Top 10 Take Home Messages

1 Antigliadin antibody testing no longer recommended.
2 IgA TTG ( Endomyceal) testing preferred
3 If IgA deficient perform DGP or IgG TTG testing
4 Test results misleading if patient is already on a gluten free diet.
5 Consider genetic testing for HLA-DQ2 & DQ8
6 Down syndrome and celiac disease 10% prevalence
7 Biopsy 2 from bulbar and 4 from post bulbar duodenum.
8 Lymphocytic infiltration on biosy alone may have other causes.
9 Celiac disease can have abnormal liver enzymes.
10 Refer to a dietician.