Let’s say you’re in a populated area, like a shopping mall. Populated with 133 people, to be specific. One of those people is fighting an invisible disease, and chances are that person has no idea. According the National Institutes of Health, about two million Americans have celiac disease, a disease whose cure relies on cutting gluten out of one’s diet, and only about 60,000 people know they have it. So, the question is, how does one become diagnosed with celiac disease, if at all, and what does it mean?
Here are some quick facts about celiac disease, taken from the Celiac Disease Foundation: it’s an autoimmune disease, meaning that it creates an overactive immune system that fights good bacteria. Specifically in celiac patients, the immune system attacks in the small intestine when exposed to gluten, or wheat products, and prevents the
patients from absorbing the nutrients in their food. Continuing to eat gluten leads to malnourishment, exacerbation of pre-existing symptoms (discussed below), and a risk for developing other autoimmune diseases. Research from the University of Chicago Celiac Disease Center says that 97 percent of celiac sufferers are undiagnosed, and according Wheat Free, Worry Free, a self-help guide by renowned celiac expert Danna Korn, women are three times more likely to suffer from autoimmune diseases overall.
So why are the rates of undiagnosed celiac sufferers so high? The American Autoimmune Related Diseases Association (AARDA) explains that autoimmune diseases are frequently misdiagnosed, if ever diagnosed at all. Almost half of patients with serious autoimmune diseases are not given proper treatment and are instead considered to be chronic complainers. Today, this shouldn’t be an issue anymore, as celiac disease is now one of the most prevalent genetic disorders in the world. Even people that don’t demonstrate classic celiac symptoms could have it, and it could develop at any age. Why does diagnosis remain so difficult to attain?
I have celiac disease and was misdiagnosed for years. My misdiagnosis story probably isn’t unique, but it does explain my exasperation over the scores of individuals that don’t know why they feel sick. I’m twenty years old and have had symptoms of celiac disease since I was a teenager. However, because I didn’t have enough of the classic symptoms and I wasn’t diagnosed as a child, celiac disease was never considered as the reason for my illness until my family and I figured it out without doctor assistance.
Classic Symptoms (in adults)
- Gastrointestinal distress
- Gastroesophageal reflux (GERD)
- Dyspepsia (indigestion)
- Anemia or other nutritional deficiencies
- Poor muscle bulk, short stature, weight loss/gain
- Associated autoimmune disorders
For me, my headaches, fatigue, and nausea, commonly called atypical symptoms because they don’t deal as much with intestinal issues, also pointed to hypoglycemia, or a glucose (blood sugar) deficiency. Starting around twelve or thirteen years old, if I ever went to a doctor for a checkup, they’d hear my symptoms and tell me it was hypoglycemia, but never test me for it. I’ve still never been fully tested for it, but I know now that I don’t need to be.
I’ve talked with Dr. Ginette Archinal, who works in a family practice in Burlington, NC, about celiac disease, and she was surprised to hear that my doctor had almost flat out refused to give me a blood test for celiac disease. I honestly had to beg for one. Dr. Archinal studied medicine in Australia before recompleting her residency in the United States and she’s noticed a few differences in diagnosis practices, not only for celiac disease.
According to Dr. Archinal, in Australia and Europe, in medical training there’s a strong emphasis on taking a patient’s medical history and being able to diagnose as soon as the history is complete. This could be the reason why, as researched in Danna Korn’s book, “in Europe… the time between onset of symptoms and diagnosis… is four to eight weeks. In the United States, it’s an average of 10 to 13 years.” Based on Dr. Archinal’s experience, in the U.S. medical assistants are the ones that take histories and the doctor then reviews it, oftentimes without going through everything and just checking off a list instead.
Dr. Laura Hays Nye, who is currently completing a medical residency, argues Dr. Archinal’s point, saying that doctors learn to rule out the serious, life-threatening conditions first, which doesn’t often include outpatient primary care conditions like celiac disease. “I think in the first several years of medical school when we are learning about all the different medical conditions we probably learn just as much about celiac disease as
any other, but because after that we don’t see it in our clinical years of medical school or during residency we forget it in our differential diagnosis and forget how to treat it,” Dr. Hayes Nye said. If doctors don’t have much experience with conditions like celiac disease until they are placed in a family practice, that provides one reason why sufferers are slipping through the cracks of the diagnosis system.
The other problem found in diagnosis is self-diagnosis. According to Korn, “one out of three people either says they have a food allergy or modifies the family’s diet because they suspect that a family member has an allergy, yet only about 6 to 8 percent of infants and
toddlers have clinically proven allergic reactions to food.” And even then, the children that do have allergic reactions usually outgrow them by age three, which drops the pervasiveness of adult food allergies to about one percent of the population. With this in mind, it would seem practical for a doctor to ask more probing questions about a patient’s supposed food allergies when taking a history. But sometimes, it’s hard for a doctor to know that he or she should be asking, especially when there are larger issues at hand.
Patients, especially in the U.S., don’t often go to the doctor until it’s really necessary because of health care costs. Usually, there’s no reason to check for celiac disease, and it’s hardest to diagnose a disease that a doctor isn’t thinking about or looking for. “We’re not computers!” said Dr. Archinal. This is a valid point, and it circles back to the issue of history-taking; it’s difficult for a doctor to know everything going on in a patient’s body and environment and that makes it even more difficult to begin making diagnostic assumptions.
But besides the healthcare costs the keep patients from seeing a doctor, up until as recently as 15 years ago, being diagnosed as celiac was a very invasive and excessive practice. According to celiac.com, from the 1960s to 1990, the method most used by doctors was a series of small bowel biopsies. It was a lengthy and unnecessary process that started with a biopsy to determine the amount of damage done to the intestines, another biopsy to see if there had been any improvement to the intestines after a gluten-free diet, and a third biopsy after being put back on a gluten diet. By 1990, it was decided that most celiac sufferers could be diagnosed after only one biopsy. Still, many patients continued to go without diagnosis because they were already feeling better without eating gluten and their doctors didn’t even consider putting them through the series of tests required.
Today, being tested for celiac disease is as easy as a simple blood test. And in my experience, it is a huge relief to know what is wrong and how to begin to feel better. The idea of completely cutting gluten out of one’s diet can be overwhelming, though, as many people take eating for granted. Then there are statistics that tell us that gluten-free foods are 242 percent more expensive than similar non-gluten-free foods. However, a gluten-free diet is actually healthier because it involves less processed, preserved foods and relies on fresh fruits, vegetables, and proteins. “And if you think about it in those terms, more about what is there and how healthy it is and less about what you can’t eat, you’d be amazed how much easier it is,” said Dr. Archinal. “It can actually make you more adventurous as an eater.”
Celiac disease can be managed once diagnosed, but as long as it remains undiagnosed, sufferers are more likely to develop other diseases. This is why celiac disease needs to be on every doctor’s mind as he or she is running through a list of symptoms. That one person out of 133 deserves the chance to fight their invisible disease and win.