When Molly McDonough was diagnosed with celiac disease two years ago, she thought she finally had the solution to years of health problems.
She’d suffered with constant diarrhea and fainting during her periods; there were skin rashes, bloating and bleeding gums. The issue with her gums led to her being scheduled for not one or two, but four root canals in her early 20s.
“You’ve got an autoimmune condition in which you can’t tolerate protein in wheat, barley and rye products called gluten,” her doctor told her in a phone call after reviewing the results of her blood tests and endoscopy. The doctor said the symptoms she’d been experiencing, “no matter how different they seem,” were her body’s responses to gluten.
He said: “There is no cure right now but as long as you remain gluten-free, you’ll be fine.”
Knowing what was wrong was a relief. Although McDonough knew she faced a steep learning curve, she was determined that not a molecule of gluten would find its way into her digestive system again. To better control her environment, she moved out of the apartment she shared with roommates and into her own space.
She learned to shop with an app that helped her identify gluten-containing ingredients, and became an advocate for herself in restaurants and bars.
Two years later, it can sometimes seem all her effort was for naught. McDonough, who lives in Whitman, Massachusetts, eats like a ‘bodybuilder,’ starting out with at least six eggs for breakfast. But she still has diarrhea so severe, she can’t keep weight on.
“It’s disheartening, to say the least,” says the children’s behavioral specialist.
High Rates of Celiac Persisting
The 25-year-old is far from alone. In a study published in the journal Gastroenterology, even on the gluten-free diet, more than half of celiac patients remained symptomatic up to five years after being diagnosed. Indeed, many still had the same symptoms that prompted them to seek a diagnosis in the first place.
The 2022 study was a joint effort by researchers with the University of Washington, Harvard University, and the Mayo Clinic. It analyzed the medical charts of 212 patients with celiac disease (confirmed by biopsy) who were seen at the Mayo Clinic between 2012 and 2018. In those years, the patients – who were mostly women and all on the gluten-free diet – had follow-up biopsies.
After one year, no less than 75 per cent of the participants had the same symptoms that led to their initial diagnosis. That percentage dropped to 60 per cent in the second year, and 50 percent through the third to fifth years.
Interestingly, men and participants of both sexes who were diagnosed with celiac disease when they were older were had a lower risk of persistent symptoms.
Dr. Daniel Leffler, a gastroenterologist at Boston’s Beth Israel Deaconess Medical Center, attributes this phenomenon partly to the behaviors of men, who go to doctors less and are less likely than women to report their symptoms.
As well, he sees challenges in general with getting a celiac diagnosis. “The less ‘classic’ your symptoms are with celiac disease, the less likely it is that you will be tested, and it can take longer to get diagnosed,” he says.
Expert Hears: What Am I Doing Wrong?
The study’s results highlight several problems when it comes to how physicians treat the disease, notes Leffler, who also teaches at Harvard University.
“It’s a misnomer to call it a ‘gluten-free diet,’ and to treat it as the one all-seeing, no-fail answer to celiac disease,” he says. “Realistically, we should call it a ‘gluten-restricted diet’. And for physicians to tell their patients that if they stick to such a diet, they’ll get better for sure, is misleading.”
A growing body of research shows that the persistence of celiac symptoms is more common than previously known. For instance, a 2023 analysis of the disease in adult patients focuses on the importance of long-term medical follow-up. It finds that persistent symptoms and issues with mucosal healing occur in 20 to 40 percent of adult celiac patients following a gluten-free diet.
A 2022 Finnish study found that, in adults who had been diagnosed with celiac as children, one-fifth reported persistent symptoms despite a strict gluten-free diet.
Leffler notes that when patients continue to experience symptoms after embarking of a gluten-free diet, this can give rise to feelings of failure.
“I hear all the time: ‘Why won’t these symptoms go away?’ Or, ‘What am I doing wrong?’” he says. “I tell them – ‘it’s not you.’ Then I explain that no patient is the same, and that there is a need for us to develop adjunct therapies to complement their diet.”
It’s estimated that one in every 100 people in North America has celiac disease. With the condition, the villi – small, finger-like projections that line the small intestine – are damaged when they encounter gluten. The villi are vital since they serve as gatekeepers for nutrients to pass through to the rest of the body.
The Trouble with ‘Gluten-Free’
In a world filled with products that contain gluten, Leffler says, “honestly, there is no way to be fully gluten-free.”
He points to a Columbia University study that chillingly found more one-third of items listed as gluten-free in U.S. restaurants actually contained low levels of the protein. (This analysis found supposedly safe pastas were the most likely to test above the gluten-free standard of 20 parts per million.)
He adds that in North America, at least, some manufacturers may adhere only loosely to the related concepts ‘gluten-free’ and ‘cross-contact.’
The gastroenterologist notes that in celiac disease, the level of intolerance to gluten will vary. “While one patient may be symptom-free after embarking on what is considered a gluten-free diet, others may not be.”
In addition, Leffler stresses the importance of recognizing there may be other medical issues associated with a patient’s celiac disease. “Once you have one autoimmune disease, you are susceptible to others. One of the more common of which, microscopic colitis, causes diarrhea,” he says. “Other possibilities could be another type of bacterial overgrowth in the small intestine, or thyroid disease.”
So, better for the physician to treat the symptoms as a mystery or a challenge rather than a patient failure. Then you can work toward what is, and what is not, the cause.
“If people are having ongoing symptoms after diagnosis,” he continues, it’s important that we have a broad list of causes to consider. It can be an exercise filled with trial and error, and we need to be patient.”
Options for Celiac Symptoms
Leffler cites the quote from the World Health Organization that “health is a state of complete physical, mental and social well-being, and not merely the absence of disease or infirmity.” He suggests patients should not expect perfection but rather, try with the help of their doctors and scientific advances, to work on having the best quality of life possible.
McDonough first saw Leffler as a patient earlier this year. She feels reassured to know that she has support in the search to find out why she is still symptomatic. Plus, there are some additional treatment options available to help set her immune system on the right track. (Currently, the physician has prescribed a steroid in the hopes it will help intestinal healing so she can better absorb nutrients.)
“I know now this is a long-term journey, not a short one,” she says. “I’m tough. I’ve been through the thick of it. As I try other therapies, I can handle that it is going to take time.”
When Celiac is Not All in the Gut
Non-Classic Symptoms of Celiac Disease on the Rise
Beyond Celiac: When Celiac is Persistent vs. Refractory