During two decades as a pediatric gastroenterologist in Italy, Stefano Guandalini saw 700 or 800 patients with celiac disease, an inherited disease of the digestive system in which consuming gluten causes an autoimmune reaction. But when he joined the University of Chicago’s pediatrics department in 1996, he encountered almost no children with celiac disease.

For Guandalini, now chief of pediatric gastronenterology, hepatology, and nutrition at Comer Children’s Hospital, the dearth of celiac patients was alarming rather than reassuring. He reasoned that because the disease was well documented in Europe, affecting an estimated one percent of the population, it should also be prevalent in the United States, where the majority of the population claims at least some European ancestry. But American medical references at the time gave short shrift to the illness, which manifests itself in a range of maladies from abdominal discomfort to liver problems. Doctors didn’t know to look for it. 

In patients with celiac disease, the consumption of gluten, a protein found in wheat, barley, and rye, triggers antibodies that attack the small intestine. The attacking cells destroy villi, fingerlike protrusions in the small intestine that perform the essential task of absorbing nutrients for use in the bloodstream.

The loss of villi can also lead to symptoms that include fatigue, joint pain, headaches, and unexplained elevation of liver enzymes. Celiac disease has been linked to osteoporosis, infertility, and neurological conditions.

Diagnosis requires a blood test for the associated antibodies. If the test is positive, patients must then undergo an intestinal biopsy to show damage because not all people who test positive for the antibodies have celiac disease.

Once it’s diagnosed, a gluten-free diet is the most effective treatment. “Patients improve dramatically in the vast majority of cases,” says Guandalini. “And if they stay on the diet, that improvement is consolidated for life.” But the diet is not always easy to maintain, and traveling and eating out can lead to inadvertent gluten consumption. “So research is important to find alternative treatments.”

In 2001, with start-up funding from a couple whose child had been diagnosed with celiac disease, Guandalini created the University of Chicago Celiac Disease Center in the hopes of raising the disease’s profile.

A decade later the disease is still underdiagnosed in this country, and Guandalini and his team of researchers, clinicians, and administrators often find themselves straddling the worlds of science, patient care, and advocacy. Funding for celiac research from the National Institutes of Health is hard to come by, says Guandalini; much of the center’s funding comes from private individuals and corporations including Thermo Fisher Scientific, a manufacturer of blood tests used to diagnose celiac disease. “I think celiac disease suffers from having been seen for decades in this continent as a minor problem,” Guandalini says, “mostly involving people in Europe and not in the US.”

Each year the center conducts more than 500 free celiac screenings for people known to be at risk for the condition: those with a family history, European ancestry, or certain other autoimmune disorders. About 5 percent test positive. Meanwhile, lead researcher Bana Jabri is working to reproduce the disease in mice, to study the pathology and to develop vaccines and treatments. In a 2011 Nature study, Jabri and her research team identified a protein called IL-15 that may play a role in gluten intolerance.

Guandalini, who sees patients regularly, sets aside two hours every Monday to answer questions about celiac disease that arrive through the center’s Facebook page. He has crisscrossed the country giving talks two to three times a month, and he has advocated for a new FDA rule that would require products labeled gluten-free to have less than 20 parts per million of gluten, a minuscule amount.

Every December the center brings in 20 physicians, nurses, and dietitians for a two-day “full immersion,” as Guandlini calls it. The participants visit patients, present their own cases in interactive sessions, view biopsies in pathology, and listen to dietitians discuss real-life stuff like the challenges of sticking to a gluten-free diet. When it’s all over, they return to their own clinics and offices “on fire” to increase diagnoses and do “the right thing for celiac,” enthuses Guandalini, who’s feeling a little less the lone wolf these days.

With 300,000 Americans diagnosed with celiac disease but an estimated 3 million who have it, Guandalini encounters patients “on a weekly basis” who have suffered  for a long time.

Doctors often miss the disease because they look for only the classical gastrointestinal presentation, not realizing that in the 1980s researchers found that it could manifest in a variety of symptoms, including mouth sores, fatigue, depression, and stunted growth in children.

Parents with celiac disease often bring their children to Guandalini, “and they very often report a history of … being minimized by their doctors who never run the right tests,” he says. “They become very vocal advocates for their children. They want the tests to be run, and many times, they are right.”

Things are changing, Guandalini adds. Much more celiac-disease research is  done in the United States than just five years ago, not only at Chicago but at the University of Maryland and the University of California, San Diego. “I think I can say immodestly that due in part to our own efforts, the situation is much improved .”