Thursday, March 20, 2014

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

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