DR. ALESSIO FASANO ON CELIAC DISEASE

In the aftermath of Digestive Disease Week (DDW), here are some highlights of Dr. Alessio Fasano's Medscape report, "Celiac Disease in the Clinical Spotlight -- What's New and What's the Path Forward?"

The general perception that celiac disease is rare in some countries, such as the United States, was unsubstantiated by any large epidemiologic study.... This controversy has been put to rest by a series of recent reports suggesting that this disorder is as frequent in the United States (prevalence in the general population of 1:133) as in Europe. This observation has been expanded to other regional areas, including North Africa, Asia, Oceania, and South America, where celiac disease is now recognized as a frequent condition affecting approximately 0.5% to 1% of the general population. Furthermore, the total prevalence of celiac disease seems to also be on the rise, as suggested by a study from Finland in which the prevalence of the disease doubled during the last 2 decades, a trend similar to that observed for other autoimmune diseases...

Given the low level of suspicion among healthcare professionals, particularly when the disease presents in an atypical manner, many cases of celiac disease remain undiagnosed and carry the risk for long-term complications, including osteoporosis, infertility, psychiatric and behavioral disorders, or cancer. One controversial topic addressed by 2 studies during this year's DDW meeting concerned the association between celiac disease and irritable bowel syndrome (IBS). A prospective multicenter study conducted in the United States suggested that more than 7% of IBS subjects enrolled tested positive for celiac disease antibodies. Whether all of these patients were indeed affected by celiac disease remains to be established, as only a small number had the diagnosis confirmed by upper endoscopy. Conversely, a prospective observational study performed in The Netherlands established that screening patients with IBS for celiac disease is not cost-effective....

Currently, total and lifelong abstinence from gluten ingestion remains the cornerstone of treatment for the disease. This diet requires an ongoing education of patients and their families, by both physicians and dieticians....

The article goes on to identify the usual assortment of serological tests as playing a "definitive role in the diagnostic process" and calls the upper endoscopy the "mainstay for establishing the diagnosis of celiac disease." It says that positive genetic testing for the DQ2 and/or DQ8 haplotypes is not diagnostic, and it doesn't mention any stool tests. This is consistent with the conventional wisdom that diagnosis involves two basic types of testing: a panel of blood tests (during a period when the patient is still ingesting gluten) and an endoscopic biopsy of the upper intestine.

Fasano wraps up by noting research into the possibility that a gene involving intestinal permeability may be directly linked to celiac disease. I believe that both Fasano and the doctor behind this new genetic research will offer presentations at November's International Celiac Symposium in New York City.