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A twist in the celiac disease diagnosis tale

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Why correct reading of celiac disease biopsies can be a matter of life and death

By Amy Ratner, Medical and Science News Analysis

The New York Times Magazine recently featured a startling column about a woman who was incorrectly diagnosed with celiac disease. It details an unusual twist in the typical celiac disease diagnosis tale, which often is about patients who have celiac disease but are misdiagnosed, sometimes for years, with conditions like irritable bowel syndrome or Crohn’s disease.

In the case detailed by Times’ writer Lisa Sanders, M.D. in the Diagnosis column, a retired nurse was suffering from constant stomach pain, a dozen bouts of diarrhea a day and weight loss of 50 pounds in one year. These symptoms, triggered especially when the patient ate bread and pasta, are often the calling cards of celiac disease.  She assumed that was the case and put herself on the gluten-free diet. The fact that she did not have health care insurance prevented her from going to see a doctor.

GF diet didn’t help

When her symptoms worsened, the patient went to the emergency room and subsequently had a biopsy. It showed flat villi, evidence that usually leads to the diagnosis of celiac disease.  She shared her theory about having the condition with doctors, and they confirmed she had the genetic autoimmune disease, which affects about 3 million people in the United States. She was advised to continue the gluten-free diet.

Although she did  follow the diet scrupulously due to her debilitating symptoms, she did not get better. In fact, her health declined to near death, according to the Times’ story.  Her doctors assumed she was not really following the diet as she claimed and that being “non-compliant” was leading to her demise.

When the patient was taken to a second hospital in dire condition, a physician there ordered the blood tests that would show antibodies to gluten if the woman was, in fact, cheating on the diet. When none were found, the doctor’s suspicion that the patient did not have celiac disease was confirmed.

That meant her biopsy results were incorrectly interpreted.

Workable guidelines

The story holds special interest for Marie Robert, M.D., Beyond Celiac chief scientific officer and a pathologist who reads biopsies in her role at Yale University. Robert recently published a study that attempts to improve biopsy diagnosis by describing the best practices in the use of the endoscopy and biopsy for patients with suspected celiac disease. The study lays out workable guidelines that can be used in daily practice.

“The case described in the Diagnosis column is a great example of bad medical practice and why patients and physicians must be aware of the constellation of laboratory and pathology data that must come together for a correct diagnosis of celiac disease,” Robert said.  

She added that anyone who thinks they might have celiac disease should see an experienced gastroenterologist. “Finally, the patient should insist on duodenal biopsies and also ask their gastroenterologist about the pathologist evaluating that tissue,” Robert said.

She noted that a gastroenterologist should do the biopsy when celiac disease is suspected, something the story seemed to indicate did not happen in the nurse’s case. “That was the first mistake made by physicians,” Robert said.

Doctors’ dialogue is crucial

Her study recommends that several samples be taken during a biopsy and that physicians share information about patients with pathologists, including symptoms, medications taken by the patient, patient and family medical history, status of the gluten-free diet and blood and genetic test results. Meanwhile, pathologists are advised to describe the damage to the intestinal villi to treating physicians when there is a suspicion of celiac disease.

Read more: How biopsies should be done and interpreted

 

The study also notes that pathologists and physicians can avoid over- and under-diagnosis of celiac disease by being aware of the variety of causes of inflammatory changes seen in biopsies and correlating biopsy findings with patient demographics, symptoms, infections and blood and genetic tests.

“The diagnosis of celiac disease requires close cooperation between clinical, endoscopic and laboratory practices,” the study concludes. “Informed dialogue between the specialties is crucial.”

The nurse’s case demonstrates just how crucial.

Ultimately, she was diagnosed with Whipple’s disease, a disorder in which bacteria usually fended off by the immune system disrupts the body’s defenses and causes the nutrient malabsorption and flattened villi that also signal celiac disease. In a biopsy, the disease is marked by the presence of bacteria-filled cells that don’t belong there.

Robert says that although pathologists are routinely asked to exclude Whipple’s disease, it is a very rare condition. She has only seen one case in her entire career.

You can read the New York Times column here.


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