Celiac Disease diagnosis takes 3.5 years in patients who have no GI Symptoms : JAMA

An estimated 1 percent of the population worldwide has celiac disease and as many as six out of seven people with the disease are not diagnosed. Dr. Mukund Venu and colleagues at Loyola Medicine study have found in a new study that it takes an average of 3.5 years to diagnose celiac disease in patients who do not report gastrointestinal symptoms whereas patients who reported gastrointestinal symptoms were diagnosed in an average of 2.3 months.The study has been published in the American Journal of Medicine.

In Celiac disease ingesting gluten triggers an immune response that damages the lining of the small intestine, preventing the proper absorption of some nutrients. The main treatment is avoiding gluten, a protein found in wheat, barley and rye.

Gastrointestinal symptoms of celiac disease include diarrhea, bloating, gas, abdominal pain, nausea, constipation, vomiting and weight loss. Non-gastrointestinal symptoms include anemia, thyroid dysfunction, osteoporosis, liver function test abnormalities and skin conditions such as dermatitis herpetiformis (itchy skin rash consisting of bumps and blisters).

Researchers reviewed the charts of 101 patients who had been diagnosed with celiac disease, confirmed by biopsy. Fifty-two presented with gastrointestinal symptoms and 49 had non-gastrointestinal complaints.

Among the findings:

• 43.2 percent of patients with non-gastrointestinal symptoms had abnormal thyroid-stimulating hormone, compared to 15.5 percent in the gastrointestinal symptom group


• 69.4 percent of the non-gastrointestinal symptom group had anemia, compared to 11.5 percent in the gastrointestinal symptom group


• 68 percent of the patients in the non-gastrointestinal symptom group had abnormal bone density scans, compared to 41 percent in the gastrointestinal group

The study excluded patients who were diagnosed with celiac disease but had not undergone a small intestine biopsy, the gold standard for diagnosing the disease. Also excluded were patients who had non-celiac gluten sensitivity (intolerance to gluten), which is managed differently.

Undiagnosed celiac disease can lead to osteoporotic fractures, infertility, unnecessary surgeries and cancer. Patients with thyroid abnormalities, anemia or bone mineral density loss should be screened for celiac disease to ensure that a possible underlying diagnosis of celiac disease is not overlooked for several years, researchers concluded.

Dr. Venu, the corresponding author, is director of clinical operations in Loyola Medicine's division of gastroenterology. His co-authors are former Loyola residents Marco Paez, MD, and Anna Maria Gramelspacher, MD, James Sinacore, PhD, of Loyola University Chicago's department of public health sciences and Laura Winterfield, MD, of the Medical University of South Carolina.

The study is titled, "Delay in Diagnosis of Celiac Disease in Patients Without Gastrointestinal Complaints."