Are there legal implications for missed opportunities for the diagnosis of Celiac disease?

Does failing to make a timely diagnosis of Celiac disease constitute a form of medical malpractice? It is now generally well known that Celiac disease, and for that matter, non-celiac gluten sensitivity or gluten intolerance, are not rare conditions. It was once estimated that Celiac disease only affected about one in 5000 to 6000 individuals, mostly in Europe, and almost exclusively children. Now it is well established the prevalence of Celiac disease is between 1/100 to 1/250 individuals worldwide, though it is still believed that most of those individuals are either not yet diagnosed or misdiagnosed. As a gastroenterologist who sees a lot of patients who have not been diagnosed or misdiagnosed, it is maddening to me to still see patients who have already undergone an upper endoscopy or esophagogastroduodenoscopy (EGD) for gastrointestinal symptoms yet either no duodenal biopsy was performed or an inadequate number of duodenal biopsies were obtained (<4). This is despite several publications and guidelines in the gastroenterology literature and community emphasizing the recommendation that the duodenum should be biopsied in patients in whom Celiac disease would be in the differential diagnosis for cause of the symptoms the patient presenting for endoscopy for evaluation of, and that would be essentially all upper digestive symptoms and diarrhea. Furthermore, the recommendations are prominent that 4 or more biopsies should be performed to improve the yield for diagnosis of Celiac disease to over 95% and lowering the miss rate. In a 2013 article from Peter Green et al. they report on this phenomenon in patients who were confirmed to have Celiac disease. They report a 5% having had a prior EGD and in these patients almost 60% had not had duodenal biopsies done and of those who did only 29% had four or more biopsies done of the duodenum. With various reports of delays of diagnosis of Celiac disease in adults ranging from an average of 7-11 years to decades, it is unfathomable that now that we have simple blood tests, genetic testing for celiac risk and many patients undergoing diagnostic upper endoscopy yet there are still both delays in diagnosis and missed diagnosis of Celiac disease. Is it time for the standard of care to be thrust upon the gastroenterology community through legal claims of missed and delayed diagnosis? Unfortunately, it is often the threat of legal action or risk of malpractice allegation or claim that is required to get physicians to change patterns of practice, albeit sometimes for the worse, but also for the better. In 2014, there should be no valid excuse for physicians, especially gastroenterologists for not thinking about Celiac disease in patients with classic upper digestive symptoms that justify upper endoscopic evaluation. Nor should there be any valid reason for not doing biopsies of the duodenum during upper endoscopy in patients with those types of symptoms. It is the opinion of this gastroenterologist that everyone undergoing an initial diagnostic upper endoscopy for unexplained upper digestive symptoms should have four or more duodenal biopsies. This would lessen the chance of unnecessarily missing or delaying the diagnosis of Celiac disease and the need for patients needing to undergo a second upper endoscopy when biopsies are not done or inadequate number are obtained. Reference: Prior endoscopy in patients with newly diagnosed celiac disease: a missed opportunity? Dig. Dis. Sci. 2013 (5):1293-8 Benjamin Lebwohl, Govind Bhagat, Sarah Markoff, Suzanne K Lewis, Scott Smukalla, Alfred I Neugut, Peter H R Green http://www.ncbi.nlm.nih.gov/m/pubmed/23361572/

What do mast cells look like under the microscope in mastocytic enterocolitis?

Mast cells are normally present in the lining of the intestinal tract (and in other tissues throughout the body) where they provide defense against infection. Mast cells contain a variety of chemical mediators for infection fighting that include histamine, leukotrienes, interleukin, eosinophilic chemotactic factor and many others. These are released in response to a threat. For example should you contract food poisoning eating potato salad at the church picnic, swallow lake or stream water containing giardia parasite, or get exposed to the norovirus on your vacation cruise, mast cells residing in your digestive tract lining respond by releasing a variety of chemical mediators to kill the infectious organism and purge you body of it as well. The results are symptoms of acute nausea, vomiting and diarrhea. However, in some individuals, especially women who have been diagnosed with diarrhea predominant irritable bowel syndrome (IBS), excess numbers of mast cells migrate to and stay just under the surface lining of the digestive tract. Once there they can be triggered by stress, mechanical processes of digestion and/or ingestion of variety of foods and food additives to release their mediators resulting in digestive symptoms. However, knowing that there are increased numbers of mast cells in your intestinal lining requires 1) you have biopsies done of the intestine during upper and/or lower scope procedures (EGD and/or colonoscopy) and 2) the pathologist perform special stains (mast cell immunohistochemistry tryptase) stains on the biopies. If both are done the pathologist will be able to see mast cells and count them. If they number 20 or more per high power field then that meets criteria for a condition called mastocytic enterocolitis or mastocytic inflammatory bowel disease. See the photo that shows what mast cells look like on biopsies where special mast cells stains were performed though visually the surface of the bowel looked normal on scope procedure and standard biopsy stains were also normal. .

What Happens When A Celiac Goes Off A Gluten Free Diet

What Happens When A Celiac Goes Off A Gluten Free Diet? For those with Celiac disease lifelong strict gluten free diet is currently the only available treatment. There are medications being investigated to treat Celiac disease but they are not yet available. Compliance with a gluten free diet can be difficult for some especially those who had minimal symptoms (though they may have complications of malabsorption such as iron and/or vitamin D deficiency), those who are in denial about the seriousness of the condition, adolescents, children residing in homes where one parent or other family member doesn't accept the diagnosis and in those who are trying to be compliant but inadvertently are getting exposed to hidden sources of gluten or cross contaminated. Common sources of hidden gluten can include medications, supplements and personal hygiene products like toothpaste and make-up. Intentional and unintentional gluten exposure to gluten can result in return of intestinal injury or failed healing. This can result in malabsorption as well as an increase in cancer. If you have Celiac disease you should be followed by a physician familiar with the myriad of signs and symptoms of Celiac disease and gluten exposure as well as sources of hidden gluten and cross contamination. You should also have regular, at least annual follow up exam and labs to ensure you are in remission.