Many patients and physicians have been inquiring about gluten intolerance and Celiac Disease (CD). While there is not a universally accepted definition of gluten intolerance, CD is very well defined and there is a standard for treatment. CD is present in one of every 100 in genetically susceptible populations and less than 10-15% of current cases have been diagnosed in the US. It is now 4 times more prevalent than 50 years ago even accounting for increased testing. Traditional presentations have now changed so that patients may be overweight and the average diagnosis is in the 5th decade. Patients may exhibit the following: autoimmune conditions (thyroid, adrenal, diabetes, RA, SLE), obstetrical problems (9 fold increase miscarriages), anemia associated with iron or folate deficiency, neuropsychiatric problems (peripheral neuropathy or ataxia), hepatobiliary conditions (elevated AST and ALT) and osteopenic bone disease.
Diagnosis is made by intestinal biopsies which may be supported by clinical symptoms, serologic tests (tTG IgA or EMA IgA) or capsule endoscopy, and response to a gluten free diet. If a skin biopsy is diagnostic for dermatatitis herpetiformis, intestinal biopsies are not needed. Genetic testing for HLA haplotypes DR3-DQ2, DR5/7-DQ2, DR4-DQ8 is available to assess for susceptibility of the disease. These haplotypes may be present in the absence of active disease (asymptomatic CD). Patients with diarrhea predominate IBS should be tested for active CD (4 fold increase).
The treatment of CD is a gluten free diet (avoidance of wheat, rye, barley). Presently new FDA guidelines suggest 20ppm or 10mg/day may be safe. Most patients have clinical improvement in 2 weeks and have serological improvement in 4-6 weeks. Histological improvement may take more than 2 years. Some benefits for treatment include reduction in cancer risk (4 fold risk), improve infertility/pregnancy, correction of osteoporosis, and correction of iron deficiency. Future therapies may include immunotherapies to block tTG, HLA DQ2 (DQ8), or T cells.