2011-02-25 21:32:18 UTC

The Vicious Cycle of Unrecognized Celiac Disease

Feb. 25, 2011

Daniel Leffler, MD, MS

Daniel Leffler, MD, MS

Director of Clinical Research, The Celiac Center at Beth Israel Deaconess Medical Center, Division of Gastroenterology, Boston, MA  


Celiac disease in its modern form of gluten-sensitive enteropathy was defined in 1950 when Willem-Karle Dicke, MD, published his doctoral thesis entitled, “Celiac disease: Investigation of the harmful effects of certain types of cereal on patients with celiac disease.” Dicke’s breakthrough solved a medical mystery more than 2,000 years old and triggered a cascade of scientific discoveries that made celiac disease arguably the best understood inflammatory disease. This relatively advanced knowledge of the pathophysiology of celiac disease has in turn greatly enhanced our diagnostic ability, and allowed for high-quality prevalence estimates in many regions.

Unfortunately, our success in elucidating the pathogenic and epidemiologic underpinnings of celiac disease has not been matched by similarly significant advances in patient care or by funding for much-needed translational and clinical research. In fact, nearly universally, celiac disease remains woefully under diagnosed. Of the estimated 1 percent of the general population spanning a wide part of the globe, from North and South America, across Europe, through the Middle East, North Africa and India, the proportion of people with celiac disease who are diagnosed ranges from a high in Finland of about 30 percent to 50 percent, to the U.S. where it is likely that no more than 5 percent to 10 percent of the celiac population is diagnosed.

This artificial paucity of celiac disease has multiple causes, including misconceptions of disease prevalence and risk factors, and uncertainty regarding indications for testing and diagnostic strategies. Barriers to celiac diagnosis have been well described elsewhere; however, the end result is regrettable on many levels. First and foremost, millions of individuals worldwide, and hundreds of thousands of individuals in the U.S. alone, continue to endure the many possible symptoms of celiac disease unnecessarily, and are needlessly placed at high risk for the known complications of celiac disease, including: skeletal fractures, fertility abnormalities, malignancies, and, in general, decreased quality of life and increased mortality.

In this era of increasing scrutiny of medical care, enthusiastic diagnosis and care of celiac disease is an opportunity we can no longer afford to ignore. At the same time, improving awareness and celiac disease diagnosis also presents an unusual challenge. Historically, physician awareness of emerging diseases and treatments has, for better or worse, been funded by industry groups with a vested interest in that area. Celiac disease, without a single FDA- or European Medicines Agency-approved therapy, is uniquely lacking in this common route of funding and support. Tragically, this has led to a vicious cycle where the lack of celiac awareness leads to a lack of diagnosis, which leads to a lack of interest from government and industry groups, which leads to lack of funding, which leads to a lack of celiac awareness and onward. While clinicians may be blissfully unaware of celiac disease, this lacuna does not go unrecognized by patients. Indeed, respondents to recent surveys from the U.S. and Canada reveal an average of six to 11 years of ongoing symptoms prior to diagnosis, and less than one-third of patients classified their physicians as knowledgeable about celiac diagnosis and treatment. These are troubling findings, especially considering this is in the minority of patients who actually finally get diagnosed.

The good news is that celiac disease is an easy disease to sell. Diagnosis is relatively straightforward. In most cases, an IgA tTG, followed by an esophagogastroduodenoscopy with duodenal biopsy (if positive), leads quickly to definitive diagnosis or exclusion of celiac disease. The IgA tTG test is also quite affordable, costing about the same as a lipid panel in most areas, and is cost effective in many populations, including IBS. Moreover, with proper support and nutritional guidance, treating physicians can also expect to see a marked improvement in signs and symptoms based on lifestyle changes alone. Indeed, it has been my experience that once a physician makes a few celiac diagnoses, IgA tTG moves quickly and appropriately into the list of commonly ordered tests.

As a profession, we must continue to adapt to changing disease epidemiology and patient needs. No place is this currently more apparent than in celiac disease. Beyond the obvious ramifications on individuals’ lives, we as gastroenterologists are also depriving ourselves of an important and very gratifying patient population who can greatly benefit from our expertise.

It is time that we embraced the opportunity to care for the millions of individuals with celiac disease walking amongst us. 


Dr. Leffler is one of the authors of “Real Life with Celiac Disease: Troubleshooting and Thriving Gluten Free,” published by AGA Press.


Author disclosure: Dr. Leffler received consulting fees from Alvine Pharmaceuticals, Inc.; Prometheus; and Shire. He also received unrestricted research support from Alvine Pharmaceuticals, Inc.

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