When should we test for celiac disease?

May marks Celiac Disease Awareness Month, with the goals of raising awareness of the disease and its potential health complications, and also to help elucidate which patients warrant diagnostic testing for the disease.

A few days ago on Twitter, I noticed that #glutenfree was trending (again). It is fascinating to observe how gluten-free businesses are beyond booming as diseases and conditions such as celiac disease, wheat allergy, and non-celiac gluten intolerance are becoming increasingly recognized and afforded their deserved attention. But, as many, including the national organization, The Celiac Disease Foundation, attest on Twitter, #glutenfreeisnotatrend for those who suffer from one of the above ailments, and particularly for celiacs, for whom treatment requires a strict gluten-free diet.

Knowing the many clinical implications of non-adherence to a gluten-free diet that celiacs may suffer from, including but not limited to premature osteoporosis, chronic iron deficiency and anemia, infertility, weight loss and malabsorption, and enteropathy-associated T-cell lymphoma, in whom should we have a high suspicion to consider celiac disease as a possible diagnosis? An understanding of the classic symptoms that patients endorse that ought to raise a red flag is well-outlined in a 2013 review article from the American Journal of Gastroenterology. Additionally, though this list is certainly not exhaustive, there are also certainly groups of patients in which particular conditions or clinical signs occur in significantly higher incidence in those who are eventually found to have celiac disease.

1. IBS-M (irritable bowel syndrome, mixed-type) and IBS-D (diarrhea-type).  Patients who carry a diagnosis of these IBS subsets should be screened, as celiac disease is found more commonly in such populations.

2. Certain autoimmune diseases. One autoimmune disease begets another, and celiac disease is no different. Comorbid diseases in particular that patients with celiac disease share include microscopic colitis, type I diabetes mellitus, Sjogren’s, Hashimoto’s thyroiditis, autoimmune liver diseases, and inflammatory bowel disease, to name just a few.

3. Unexplained iron deficiency with or without anemia in premenopausal women.  Though it is not uncommon for menstruating female patients to suffer from low iron stores, and even anemia, celiac serologies should be obtained to rule out iron malabsorption secondary to the duodenal villous atrophy that celiac disease creates.

4. Family history of celiac disease in a 1st degree relative. Celiac disease has been shown to run in families, so patients, particularly those with digestive symptoms, should also undergo screening.

Finally, what are the best screening tests? If we could choose one, a tissue transglutaminase IgA antibody (tTGA) is the best test, given its high sensitivity and specificity. The caveat, though, is that close to 10% of celiacs are IgA deficient, so it would be prudent to check for an IgA level along with the tTGA.

Celiac disease affects close to 1% of the US population, which is not an insignificant number. Interestingly, population studies are finding that celiac does not discriminate – it affects all ages, races, and ethnicities. As we learn more about the disease, we find that its clinical presentation is becoming more varied, more nuanced, and can even manifest without gastrointestinal symptoms. The sooner we diagnose our patients with celiac disease and prescribe to them a strict gluten-free diet, the higher likelihood we have in potentially avoiding the morbidities that come along with the disease. So, here’s to Celiac Awareness Month.

Sophie M. Balzora is a gastroenterologist and can be reached on Twitter @SophieBalzoraMD.

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