When then 15-year-old Sam Frolichstein-Appel’s family went to the University of Chicago Celiac Disease Center in 2011 for a family screening, there were no indications that he might have celiac. His uncle, Michael Frolichstein, host of “The Celiac Project Podcast,” had been diagnosed with celiac after what Frolichstein-Appel describes as “a lifetime of symptoms that doctors couldn’t place.” But it was one of Sam’s brothers, Abe, who was experiencing “some gastrointestinal issues,” Sam explains, and the family was “wondering if he could also have celiac.” At the Celiac Disease Center, Sam and Abe, along with their brother and 2-year-old cousin, were screened for celiac.
Several days later, Sam’s parents called him downstairs to share the results. “My response, without even thinking, was to immediately blurt, ‘It’s Abe, right?’” Even though his brother had been experiencing gastrointestinal symptoms, it was Sam’s blood work—not Abe’s—that had come back positive for celiac. The news was so unexpected for him, and in that moment, he says, his parents “just looked at me until I realized that I had been called downstairs for a reason, and not Abe.”
Sam had every reason to be surprised by the screening’s results. “I had never fathomed that I could have it, as I was always fairly healthy and had never had problems with eating or my diet,” he says. “There was no indication that I wasn’t absorbing nutrients until my endoscopy showed that my villi were entirely worn down.”
What is asymptomatic celiac disease?
Celiac disease has symptoms that range from gastrointestinal to neurological to dermatological and beyond. While many individuals who are diagnosed exhibit symptoms, not everyone does. In fact, just like with Sam, a diagnosis of celiac does not necessitate the presentation of symptoms. These individuals go about their lives without anything feeling wrong. That, however, does not mean that gluten is not causing problems.
“Asymptomatic celiac disease is [found in] an individual that, despite positive antibodies, despite the damage in [the small] intestine as showed by endoscopy, you will not experience any signs or symptoms,” explains Alessio Fasano, MD, director of the Center for Celiac Research and Treatment at MassGeneral Hospital for Children and professor of pediatrics at Harvard Medical School.
The question arises, why do some people present as highly symptomatic and some without any signs at all? Presently, this is not yet understood, says Fasano: “There is still a lack of understanding why some people, despite the inflammation there, they don’t have symptoms.” Right now, he explains, “the general wisdom that probably will be correct is that the [small] intestine is a long tube; in an adult, it’s an average [of] 20 feet long, and when we do the endoscopy, we look at only the first few inches. So it’s intuitive that if your damage is only at the very beginning and the rest of the intestine is spared, you may be more in the asymptomatic group.”
When it comes to asymptomatic celiac disease, the true absence of symptoms can be put into question because everyone has a different perspective on how they feel. Due to this, Fasano says, “It’s hard to say, because the definition of symptoms or lack of symptoms, it’s a threshold that is very subjective, and people have a different way to perceive if they’re healthy or not.” He says “this line is not black and white;” rather, “it’s very finicky” and leads to trying to figure out if someone is truly asymptomatic. He will, as he explains, “dig into details if really this individual is asymptomatic by asking, ‘Do you have some extra gas? Are you tired more than often? Do you have issues with bloating on and off?’ And I can go through the list.”
Are you truly asymptomatic?
Fasano finds some patients diagnosed as asymptomatic will feel differently after they begin the gluten-free diet. “They come back and say ‘Oh boy, I didn’t realize I was so tired. I thought because I had kids to deal with and I wake up at 6 o’clock in the morning’” and this was the source of their fatigue. Other patients have told him, “You know, that extra gas, I thought everybody had this kind of gas. Now I feel less bloated and less gas, less stomachache and so on and so forth.”
The reality is that “it’s very, very difficult, particularly when we talk about subjective symptoms, to establish who is truly asymptomatic,” Fasano explains. However, he notes, “such an entity exists. We are aware about that because of this screening in family members that are higher risk with celiac disease,” which leads to the diagnosis of a family member. Since celiac runs in families, it’s important for family members to be tested. When it comes to screening for celiac, the “top priority would be first-degree relatives,” says Fasano. “So mom, dad, brother, sister. There is also a slight increase with second-degree relatives, so uncles, aunts, cousins, niece, nephew, grandparents, they also need to be screened.”
Individuals with asymptomatic celiac disease can also be detected when “somebody has comorbidity that we know to be associated with celiac disease, let’s say somebody with Hashimoto’s, type 1 diabetes, Down syndrome,” Fasano explains. As a result, these individuals will be screened for celiac whether or not they have symptoms.
Just as symptomatic celiac can be diagnosed at any age, so, too, can asymptomatic celiac disease. “Children can be as asymptomatic as adults, but the risk of starting puberty with active celiac disease (even without symptoms) with the subsequent impact on their final growth is a concern that deserves even more attention to properly identify asymptomatic subjects among them,” explains Fasano.
Starting the diet after diagnosis
According to Fasano, “The real question that everybody that’s been diagnosed with celiac disease with no symptoms is: ‘What is my investment for going on a gluten-free diet? Why should I do that? I feel well. I don’t want to go on a diet,’” he says. The answer has to do with the consequences of long-term inflammation and therefore, “you try to do interactive intervention…to prevent the consequences of a chronic inflammatory autoimmune process [that left] ongoing will eventually lead to.”
This is a conversation Fasano often has with teenage patients who have been diagnosed with asymptomatic celiac disease. When they ask why him why they should follow the diet, he tells them frankly, “You can have diarrhea, you can lose weight or you can develop diabetes, or you can have Hashimoto’s, or you can have the bones that will break, or, worst-case scenario, very rare but possible, you can develop cancer.”
Individuals diagnosed with asymptomatic celiac disease need to begin the gluten-free diet to prevent further damage. “So, if you are already in a situation in which you have a condition that is creating an autoimmune issue to your gut, it’s obvious that it’s only a question of time that this will eventually, sooner or later, result in signs or symptoms that can affect your lifestyle,” Fasano explains. Due to this, “you will be much better to prevent what can happen down the road by going on a gluten-free diet rather than to wait until the storm comes to your doorstep.” In other words, “It’s much more complicated to fix something that is already broken.” So, he notes, “there is a strong incentive” to following the gluten-free diet “because you have return on [your] investment.”
The question arises whether someone diagnosed with asymptomatic celiac disease should approach the gluten-free diet differently than someone who has been symptomatic. “Those with and without symptoms need to consider the same nutritional principles—balance, variety and, most of all, staying 100 percent gluten free,” explains Amy Keller, MS, RDN, LD.
She notes that a lack of symptoms can add extra issues. “I think those with asymptomatic celiac disease do face an additional challenge, however, in terms of staying motivated to be compliant. If you don’t have immediate negative feedback from consuming gluten—you don’t have an upset stomach or diarrhea—it can be easier to say ‘one bite won’t hurt.’”
To help adjust to the gluten-free diet, she recommends finding a few new favorites and indulgences. “It’s important to look at substitutions that may make life a little easier or happier. If you enjoy pretzels at lunch, find gluten-free ones that you enjoy,” she says. However, Keller notes, “don’t let the gluten-free diet be a license to have a ‘junky’ diet if you didn’t have one before. Keep half your plate fruits and vegetables, add in lean protein, dairy if you tolerate it and gluten-free whole grains.”
Sam noticed some changes following his diagnosis. “Even though I didn’t exhibit symptoms,” he says, “I felt better after removing gluten from my diet.” Once on the diet, “I had a noticeable increase in energy and felt generally healthier.” But he also wonders if there might also be “a placebo effect.” Either way, he is now a healthy and busy college student who has a great deal of perspective on his diagnosis and the ways it has enriched his life.
While the diet took some adjustment, he finds that it has empowered him. He says, “Celiac has forced me to advocate for myself in a unique way that I wouldn’t have achieved if I hadn’t been forced to. This advocacy extends beyond dining and into other aspects of my life, and has been surprisingly beneficial.”
Susan Cohen is a New York freelance writer. She contributes regularly to Gluten-Free Living.