When Brian Bosworth, MD, was an internal medicine resident in the fall of 2002, he went in for a routine checkup with an internist. What he did not realize at the time was that the appointment would lead to a diagnosis of celiac disease. 

“I went in to see my internist for a regular checkup, and as part of the normal history and physical, she did some quote-un-quote routine labs, or screening labs, which included a blood count, a cholesterol level, looking at kidney function, electrolytes, liver tests  and some vitamins,” said Bosworth, now chief of medicine, NYU Langone Health Main Campus, Tisch Hospital. 

He shares that “everything was normal—my history and all of the lab work was pretty much normal, with the exception of two or three of my liver tests, [which] were slightly elevated.” Given his knowledge of medicine as an internal medicine resident, he found the elevated liver tests surprising. His liver tests were run again approximately three months later, and they remained elevated. Bosworth’s doctor referred him to a gastroenterologist to be evaluated.  

His evaluation included “an ultrasound of my liver, which was normal, as well as a number of tests for chronic liver diseases,” he shares. The GI also tested him for celiac disease since, as Bosworth notes, “celiac disease can sometimes cause abnormal liver tests in the pattern that I had, which were an elevated AST and ALT, which are transaminase enzymes that are made by the liver.” When the results came back, there was something unexpected.

“All of those liver-specific tests came back negative, but my celiac serologies were through the roof.” Bosworth had an endoscopy and biopsy, and was found to have subtotal villus atrophy and was diagnosed with celiac disease. Of note, he had already been accepted to a fellowship in gastroenterology at the time of his diagnosis. 

Blood draws tell a story 

Bosworth’s celiac disease diagnosis began with a regular checkup at the internist. It was his internist who spotted the elevation in the liver tests and referred him to a gastroenterologist for further investigation. 

His road to diagnosis demonstrates that there is no one path to a celiac disease diagnosis. It also serves as an example that, for some individuals, routine labs run at a checkup can provide important information that can lead to testing for celiac disease. While for him it was elevated liver tests, there are several values in bloodwork that might indicate a patient should be tested for celiac disease. 

“There are several common blood test abnormalities that might lead to a diagnosis of celiac disease, including anemia (which follow-up testing may reveal deficiencies in iron, folic acid, or vitamin B12), elevated liver enzymes or low HDL (‘good’) cholesterol,” explains Benjamin Lebwohl, MD, MS, director of clinical research, The Celiac Disease Center at Columbia University. “People with celiac disease can present with any of these abnormalities, and it is reasonable to test for celiac disease if these abnormalities are picked up on routine testing.” 

The question arises whether there are any statistics on how many patients are diagnosed because of routine bloodwork. “Statistics on this topic are hard to come by,” says Lebwohl. The inability to quantify patients diagnosed via routine blood draws is because of crisscrossing of symptoms and how they come to a physician’s attention.

For example, as Lebwohl notes, “some patients with iron deficiency may come to medical attention due to fatigue, while others may have the condition picked up on routine testing, but they may both be classified as having ‘non-classical’ celiac disease, which is a large category that encompasses both types of patients.” Additionally, “others may feel well but then be found to have iron deficiency, and then (after diagnosis of celiac disease) discover that in retrospect, they had significant fatigue. So categorization of such patients has been difficult.”

The role of an internist 

Given that an internist may be the first person to recognize abnormalities in blood tests, it’s important to consider the role they play in their patients’ healthcare.   

Sandy Balwan, MD, an internist at Northwell Health, refers to internists like herself as “the quarterback of all the services” since they get the ball rolling, so to speak. They are there for “the whole person” and to provide both a “physical as well as mental health check” for their patients. She notes that at a checkup, the questions asked are “universal,” meaning they are asked to all patients, providing the opportunity “to have an objective conversation with the patient without passing judgement.”

For internists, blood tests can tell an important story. Balwan explains that “bloods can reveal that something is happening” and provide “early signs before [a] patient is experiencing any symptoms,” and this offers, as she refers to it, the opportunity to conduct “surveillance.” 

When a physician has the results, they can “have an even more in-depth conversation” with the patient and, if necessary, discuss the next course of action. 

One of the very important roles an internist can play for their patient is as a navigator. Balwan refers to it as a partnership between the physician and patient.  “You need to partner with someone who can help you navigate the healthcare system,” she explains, whether it is for finding a specialist or explaining what takes place at an age-appropriate screening.

Perspective on diagnosis 

Bosworth’s diagnosis 17 years ago was a mixture of emotions. “It was definitely a surprise to me when the serologies came back,” and he notes that at that time “the awareness of celiac disease was much, much lower, and the concept of a gluten-free diet or gluten-free foods was quite uncommon.” Being an internal medicine resident at the time of his diagnosis also meant that he found “so many aspects” of his path to diagnosis “fascinating.” 

Bosworth feels very fortunate that his bloods were run. “I’m very glad that they were sent and that I was diagnosed when I was because after diagnosis and meeting with a nutritionist and going on a gluten-free diet, I also had a bone density scan done, a DEXA scan.” The results showed that his bone density was “essentially 4.7 standard deviations below that of a healthy 30-year-old male.” This meant he was in the osteoporosis zone and was at risk for serious bone issues.

His diagnosis also provided a unique perspective as a physician. “Certainly being on the patient side of things gives you a different awareness and sensitivity to challenges that patients face,” he shares. “I think that being able to give good insight into a gluten-free diet for patients…is important and really strengthens that therapeutic alliance that I form with patients who have celiac disease or gluten intolerance.”

Thinking about celiac disease

Given that there is no single symptom or path to a celiac disease diagnosis, it’s important to consider how individuals who are screened  because of values from routine blood draws fit in to how we think about celiac disease. 

“Individuals who are tested and diagnosed with celiac disease based on abnormal lab values may not have obvious symptoms of celiac disease but these findings are signs of celiac disease and the damage that is occurring in the body,” explains Maureen Leonard, MD, MMSc, Clinical Director, Center for Celiac Research and Treatment. 

For these individuals, the lab values actually might not have been there only symptom. “Often these patients, once properly diagnosed with celiac disease, find that once on a gluten free diet, symptoms they did not notice like reflux, abdominal pain, fatigue, peripheral neuropathy, and joint pains may improve.” 

As far as the role of an internist, Leonard notes that they are “a strong ally in celiac awareness and diagnosis” as are many others in the healthcare field. “As gastrointestinal doctors we must also do our best to help educate our patients and our colleagues including those who are internists, rheumatologists, OB-GYN, endocrinologists and  the list goes on. Since celiac disease is systemic and can affect any part of the body, it is important that physicians in all specialties are aware of the symptoms and signs of celiac disease.”

Susan Cohen is a New York freelance writer and a regular contributor to Gluten-Free Living.

Headache, short stature, bone and joint issues, mood changes and other
non-gastrointestinal problems could be signs of celiac

Years ago, celiac in children was associated with malabsorption, watery diarrhea and loss of both weight and muscle. However, these symptoms are less likely today. In fact, when this set of symptoms presents itself, explains Alessio Fasano, MD, director of the Center for Celiac Research and Treatment at Massachusetts General Hospital, “we call students—you know residents, fellows—and say, take a picture here, you’re not going to see this anymore.”

While gastrointestinal symptoms still occur in children with celiac, the presentation has shifted. “We see kids with stomachache, or vomiting, or even constipation [with] no diarrhea that have celiac disease. They’re still classified as GI [gastrointestinal] symptoms, but they are so vague that they can be labeled as IBS [irritable bowel syndrome], they can be labeled as chronic constipation,” says Fasano. The symptoms are “not as straightforward [as] the typical malabsorption presentation with…watery diarrhea, weight loss, muscle wasting, and so on and so forth.”

Coupled with a change in the gastrointestinal presentation, another change is afoot for children with celiac. “In the past, the GI symptoms were the most frequent way that celiac disease [presented] in pediatrics. Not anymore,” notes Fasano. Presently, “it’s not unusual—actually it’s more frequent than before—that kids may present with extraintestinal symptoms, and the top of the list,” he notes “is anemia and, with that, chronic fatigue.” Those are just two of a longer list of extraintestinal symptoms, which afflict parts of the body other than the digestive system. The increase in rates of extraintestinal symptoms in children warrants a deeper look.

A deeper look

The term extraintestinal might be a new one, even for those who received their celiac diagnosis years ago. Rather, you may be more familiar with the phrases “typical” versus “atypical” in regard to presentation of celiac.

Fasano notes that symptoms closely associated with malabsorption were considered “typical” because the diarrhea, weight loss and a big belly were the classic signs of celiac. “That nomenclature has been abandoned,” he says, “[and] now we talk about intestinal/extraintestinal symptoms and the reason why…the GI presentation of celiac disease is not typical anymore.”

According to Fasano, roughly 60 percent of children with celiac exhibit intestinal indications while 40 percent experience extraintestinal symptoms. There is, he notes, a “gray area” in that some children will present with both gastrointestinal and extraintestinal symptoms.

In children, bone issues can indicate celiac. “Certainly patients with recurrent fractures or bone fragility [are] worth…screening for celiac disease,” says Norelle Rizkalla Reilly, MD, assistant professor of pediatrics at Columbia University Irving Medical Center and director of pediatric celiac disease at the Celiac Disease Center at Columbia University.

Related to fracture and bone health, children can experience “joint issues—joint complaints with swelling or without swelling—that seem to materialize and increase over time concerning the difficulties to do their sport and physical activities that they used to.”

Growth in general, and as it pertains to puberty, is another area of concern. Children “can present with issues dealing with failure to thrive so they’re short or…girls can have late menarche, so they start their periods much later than they’re supposed to,” says Fasano.

Reilly adds, “Just realizing that your child’s shoe size hasn’t increased” or he or she “hasn’t gone up a size in clothes [when expected]” could indicate a problem with growth.

Additionally, children can present with a rash that can be “very painful to deal with,” says Fasano. “The skin manifestation can be the classical dermatitis herpetiformis [DH, the most common skin symptom of celiac]…[but it could also be] a form of skin reaction [that is] not necessarily DH…more in the eczema category,” he explains.

Often-overlooked symptoms

“Probably the most intriguing—and now ramping up—way that the disease presents itself is with behavioral or neurological symptoms,” says Fasano.

Both Fasano and Reilly mention headaches. “[There is] probably under-recognition of the possibility of celiac disease in somebody with recurrent headaches,” notes Reilly.

With changes in behavior, “some kids…have more than normal mood swings. Others…show clear signs of anxiety and depression,” Fasano reports. “It’s not unusual for us to have kids …come to our clinic [who have] been worked out by…a psychiatrist [or] psychologist and put on the typical medication,” but the symptoms do not go away. When this happens, “eventually, either the family or the health-care provider starts to think about the possibility of something unusual, and they question the possibility of celiac disease.”

For children in this zone, it’s almost a process of elimination to determine the root cause of the problem. Fasano says, “If [a child is] depressed or anxious, you start by [asking whether] anybody else in the family [deals] with the same problem. [Did] anything happen in the family? Did something happen at school—is the [child] being bullied?” As he points out, if there is not “a clear…reason why this kid [is starting] to have changing…moods, you need to open your eyes to the possibilities and…go to the second tier of possibilities,” which can entail screening for celiac.

The relationship between the gut and the brain will likely receive more attention going forward. “The gut-brain axis is such a hot topic nowadays,” says Fasano. “And celiac disease is a good paradigm of how this cross-off between the gut and the brain is not one-way, as we believed before, that the brain influences the gut function—it can be the other way around. The gut can influence brain functions.”

Pinpointing extraintestinal symptoms 

With extraintestinal presentations covering such a wide range of signs, it can be hard to pinpoint when a symptom is connected to celiac. How is celiac, as opposed to another condition, determined as the cause?

“That’s the major challenge that we face on a daily basis when we deal with the diagnosis of celiac disease,” says Fasano. “It is very, very challenging. You need to have your level awareness,” which means that “celiac disease [is] in your radar screen, otherwise you usually miss it,” which is “the reason why we always advocate that low threshold to screen for celiac disease.”

When it comes to figuring out whether a child’s symptom is connected to celiac, Fasano explains that “the proper way to approach [a] problem in medicine is to think in terms of hierarchy of possibilities, from the most frequent to the most severe.”

This type of approach is warranted when evaluating concerns about “deceleration in weight gain or growth,” says Reilly. For example, if parents think that their child “may not be growing as expected, it’s always worth a check-in to make sure that [his or her rate of growth is] OK, especially as kids get closer to puberty or for kids that are very young.”

It remains unknown whether delayed puberty is directly linked to celiac “because in some cases delayed puberty can be hereditary,” Reilly says. However, when such a delay occurs in an adolescent with celiac, “we view it as a good thing [because he or she] still has some growth potential,” she explains. “We have [an] opportunity for recovery [following a diagnosis] in that sense.”

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.

Additional issues

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.”

Post-diagnosis perspective

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.

What happens when an individual with diagnosed celiac experiences gastrointestinal (GI) symptoms? GI issues such as bloating, constipation and diarrhea are common celiac symptoms, so an individual may assume such discomfort is the result of inadvertently consumed gluten or cross-contamination. While this certainly could—and for some individuals, will—be the case, gluten may not be the cause of these symptoms for others.

“Though the majority of patients with celiac disease have a marked improvement or resolution of symptoms after starting a gluten-free diet, about a quarter to a fifth of patients at any given time report that they have either persistent symptoms (i.e., the symptoms did not entirely go away) or recurrent symptoms (i.e., the symptoms initially improved and then came back),” explains Benjamin Lebwohl, MD, MS, director of clinical research at the Celiac Disease Center at Columbia University. “This is one of the most common reasons people seek evaluation at a celiac disease center. The most common cause of these symptoms is gluten exposure, but there are a number of other causes.”

Something feels “off”

Not every GI symptom is cause for concern. Individuals with diagnosed celiac can experience GI episodes like anyone else. “It is common for patients with celiac disease to assume that an episode of gastrointestinal distress is due to gluten exposure, but they are prone to the same kinds of episodes of food poisoning or gastroenteritis as everyone else,” says Lebwohl.

One’s dietary choices, for example, can lead to GI upset. As Laura Manning, MPH, RD, CDN, clinical nutrition coordinator at The Mount Sinai Hospital, points outs, certain items in larger quantities—such as alcohol, sugar or even too much coconut oil—can cause diarrhea in some individuals. Manning also notes that choices within the gluten-free diet can lead to constipation.

“Very often, someone will embrace the gluten-free diet/lifestyle and then purchase a lot of foods that are packaged—gluten-free cookies and breads and so forth”—and these products contain refined flour as opposed to whole-grain ingredients, Manning says. While these items taste good, splurging on them “can also lead to constipation.”

For these patients, Manning will review their dietary habits and suggest healthier alternatives. “I probably can identify that they have a lot more processed gluten-free products in their diet and will have them switch over to whole grains in their most wholesome form, as opposed to milling down the flours,” she says. She recommends that patients focus on including whole grains such as quinoa and brown rice, fruits and vegetables, and also increase their hydration.

Accidental gluten ingestion might not explain recurring GI distress in someone with celiac. “When these [symptoms] occur frequently, gluten exposure is a possibility, but it is important to consider other causes beyond celiac disease,” says Lebwohl. “This should be done with the guidance of a clinician experienced in the management of celiac disease.”

Is gluten the culprit?

The first step in determining whether frequent GI symptoms are caused by gluten exposure is visiting a physician.

First and foremost, explains Rupa Mukherjee, MD, attending gastroenterologist at Beth Israel Deaconess Medical Center in Boston, it is “important to make sure that the diagnosis [of celiac] has been confirmed, since there are other causes for villus atrophy, or inflammation of the small bowel, that can overlap with celiac.”

Following a confirmed celiac diagnosis, “The first step would be making sure through a meticulous dietary evaluation that there isn’t gluten exposure from some source that the patient is not aware of,” she says. To obtain this dietary history, Mukherjee says that “it’s often helpful to do this under the guidance of a celiac dietitian—someone trained and experienced in celiac-related dietary issues.”

“I generally ask every patient of mine with celiac disease what their gluten reaction is—if they even have one, since not everyone does,” says Mukherjee. “Some patients can be asymptomatic, and for them, that’s very frustrating because they don’t know if and when they have been exposed to gluten.”

Those patients who do experience symptoms “have a good sense of what their gluten reaction is, so they can tell soon after eating out if they were exposed to gluten or not.” She also points out that “the symptoms that characterize a patient’s gluten reaction can change with time.”

A patient should share every symptom with his or her physician, and disclosing new symptoms is especially crucial. “But it’s important to put it into perspective that if a patient develops a new symptom, such as constipation, that this is not necessarily due to having celiac disease or getting exposed to gluten,” Mukherjee says. “In these cases, it’s important that the patient discusses new symptom onset with their physician or gastroenterologist.”

Once it has been determined that a patient with confirmed celiac is not being exposed to gluten yet is still experiencing GI distress, Mukherjee says, “there are other etiologies/conditions for ongoing symptoms that need to be considered and evaluated for.”

Two possible causes

A patient with diagnosed celiac who is strictly adhering to the diet but experiencing diarrhea and abdominal cramps could have microscopic colitis. The condition, Lebwohl explains, occurs when “the colon (large intestine) becomes inflamed on a microscopic level—the naked-eye appearance of the colon is normal (or sometimes slightly red) on colonoscopy, but biopsies show injury.”

The cause of this condition varies, “but in some patients medications such as anti-inflammatory medicines such as ibuprofen can be a trigger,” says Lebwohl. However, gluten could still play a role. “In people with celiac disease, gluten exposure can sometimes be a trigger [of microscopic colitis].

“There are several medications that are used to treat microscopic colitis, including bismuth (i.e., Pepto-Bismol), and, in some cases, medications that decrease inflammation in the intestine such as budesonide,” says Lebwohl. For individuals with microscopic colitis caused by taking anti-inflammatory medicines, “simply stopping the medication is often sufficient to result in improvement.”

Another possible condition, small intentional bacterial overgrowth (SIBO), occurs when there are excessive bacteria in the small intestine.

“Small intestinal bacterial overgrowth occurs when the quantity of bacteria that live in the small intestine increases,” Lebwohl explains. “In the normal state of affairs, bacteria are most abundant at the end of the small intestine (the ileum), but in SIBO, bacterial quantities increase closer to the middle of the small intestine (jejunum).” As a result, a person can experience “difficulty digesting fats and impaired absorption of certain nutrients, such as vitamin B12.”

Diagnosis and treatment of SIBO are relatively straightforward. According to Lebwohl, “this condition is most commonly diagnosed via a breath test that measures bacterial quantities after ingesting a sugar compound (glucose or lactulose), and can be treated with a course of antibiotics.”

Irritable bowel syndrome

Individuals with diagnosed celiac could also have irritable bowel syndrome (IBS). IBS is a functional bowel disorder, a condition “defined by the presence of typical symptoms [that] span everywhere from the mouth all the way to the anus,” explains William D. Chey, MD, FACG, AGAF, FACP, RFF, medical director of the Michigan Medicine Bowel Control Program.

“[Functional bowel disorders] are multifactorial in terms of their cause,” Chey says, meaning that determining the specific reason such conditions occur is often not possible. “It would be wonderful to be able to say to you, well, they’re all related to abnormalities in the ways the bowels contract and in motility, or they’re all related to problems with brain/gut interactions and a visceral sensation in the GI tract to any of a variety of different kind of stimuli to any kind of food or stress. But the reality is they’re more complex than that. So while those types of factors are important, a host of other factors likely also play a role.”

Functional bowel disorders are quite common. “Probably on the order of 30 to 40 percent of people in the general population have GI symptoms at some point in time over the course of the year,” says Chey. “Probably 20 to 30 percent will qualify for a formal diagnosis of one of those functional GI disorders.”

IBS is “defined by the presence of abdominal pain and altered bowel habits, and that can be either diarrhea, constipation or a combination of both,” Chey explains.

IBS is a tricky condition to diagnose. “I think what distinguishes IBS is the frequency and severity and burden of illness associated with a person’s GI symptoms,” Chey says. “IBS is defined by the presence of abdominal pain and altered bowel habits, and when patients are having those symptoms frequently, let’s say on a weekly basis, and they’re severe enough to be affecting a person’s quality of life, to me, that constitutes an illness burden that is consistent with the diagnosis of IBS.”

A hallmark of IBS is that illness burden. “Somebody that’s having fairly frequent symptoms [that are] affecting their ability to be able to carry out their activities, those patients…should get evaluated to make sure they have IBS,” Chey says, and not the “number of things that can mimic IBS but that are treated very, very differently than IBS.”

It is important to note that celiac can be misdiagnosed as IBS. “There is clearly a small subset of patients who are mistakenly diagnosed with conditions like IBS but are subsequently found to have celiac disease, and when they go on a gluten-free diet, they get complete resolution of their symptoms,” explains Chey.

As Lebwohl notes, “Irritable bowel syndrome is present in 10 to 15 percent of the population, far more common than celiac disease (which is present in a bit under 1 percent of the population), and so it’s quite common for people with celiac disease to also have irritable bowel syndrome.”

Mukherjee points to a study at the Beth Israel Deaconess Medical Center, which found “in our cohort of patients with celiac disease, that nearly 10 percent of patients had irritable bowel syndrome as a concurrent condition that was likely propagating their celiac symptoms.”

IBS can occur at any point in individuals with celiac. “It can predate the diagnosis of celiac disease or occur at a later time after the diagnosis of celiac disease,” explains Mukherjee. “Certainly a patient who has celiac disease for years and is symptom free on a gluten-free diet with normal lab results can develop a motility disorder as a separate condition….”

Currently, there is no one-size-fits-all treatment for IBS. Some individuals experience tremendous benefits on the FODMAP diet (see sidebar). FODMAPs are a group of “fermentable carbohydrates naturally occurring in foods that are essentially healthy for us, but for some reason certain people cannot tolerate them and they get extreme pain, gas, bloating, constipation and diarrhea when they’re eaten in such large quantities,” explains Manning.

“With FODMAPing, you can learn what your trigger foods are,” she says. “The FODMAP diet will eliminate all of those fermentable carbohydrates for a short period of time.” Manning advises that “it does have to be done with the guidance of a dietitian that has some expertise in it.” After elimination, “give yourself a chance to settle down, and then you work each fermentable group back in strategically to be able to figure out what those trigger foods are.”

The goal through this removal and reintroduction, Chey explains, is “to determine a person’s sensitivities to individual FODMAPs and then tailor a person’s diet based upon that reintroduction information to establish their maintenance diet. And that’s what they stay on. They don’t stay on the full elimination diet.”

The diet has been quite successful. “Probably almost 60 percent of patients with IBS get relief from their bloating and pain with low FODMAP,” says Chey. “That being said…a significant proportion of patients don’t get better with low FODMAP.”

Heartburn

Acid reflux, commonly known as heartburn, occurs when the stomach contents reflux, or back up, into the esophagus—the tube that spans from the mouth to the stomach—and sometimes into the mouth. When this condition persists, it is also called GERD (gastroesophageal reflux disease).

“Any patient with celiac disease that is under good control on a gluten-free diet can develop another GI condition like GERD with time that is not necessarily related to their celiac disease, in the same way that someone can develop a food sensitivity, such as lactose or soy, with time,” Mukherjee says. “I see this frequently in my GI clinic.”

For patients experiencing acid reflux, diet and lifestyle choices can play an important role. Manning offers heartburn patients a number of tips to reduce foods and drinks “that would irritate the stomach lining and/or cause more reflux,” including fried items, citrus fruits and large quantities of coffee and tea.

When it comes to lifestyle, she also notes the importance of avoiding eating late at night as well as eating small, frequent meals instead of three large ones. Daily routine can also affect heartburn. “I ask people what they do for a living,” she says. Specifically, she asks, “Are you sitting at a desk in a bent-over position all day? Do you eat at your desk?” These are important aspects to cover, because food cannot pass through the GI tract nearly as easily as it would for someone who goes for a quick walk after eating. Even clothing can have an impact on symptoms. Manning asks patients, “Are your pants very tight? Do you wear a tight belt? Those are also really subtle, but they can make a huge difference.”

Patients with another type of heartburn, functional heartburn, “don’t necessarily have evidence of acid reflux,” says Chey. This means that they “have symptoms that for all the world look like acid reflux, but there’s no identifiable evidence of acid reflux.” These individuals, Chey says, “respond to behavioral techniques, so deep relaxation techniques or cognitive behavioral therapy seem to work just as well as any of the medications we have.”

Food intolerance and malabsorption

Food intolerance or malabsorption can also cause GI issues. In individuals with celiac, Manning notes that “a lot of patients also have a lactose intolerance. That’s super common.” For these individuals, “…the most common symptom of lactose intolerance is diarrhea, gas, bloating.” To determine whether lactose is causing the symptoms, “I’ll have to tease that out and see whether they are having copious amounts of lactose.”

Another possible cause of GI distress is malabsorption of fructose, a type of sugar. “Patients who suffer from fructose malabsorption cannot absorb fructose completely in their small intestine,” says Mukherjee. “This can be experienced as abdominal pain, cramping, gas, bloating, abdominal distension. Diarrhea can develop due to the undigested particles of fructose. “

When this malabsorption occurs, “the undigested or leftover fructose travels to the colon, where it is fermented by colonic bacteria. The bacteria produce gas, which causes the intestines to swell.” When it comes to treating this, she says that management hinges on “limiting high-fructose foods or, in other words, a low-fructose diet. It is often helpful to start a low-fructose diet, also called the FODMAP diet, with the help of a dietitian.”

If you’re experiencing frequent GI distress in spite of following a gluten-free diet, don’t assume hidden gluten is the culprit. Visit your doctor. Together, you can determine the cause of your symptoms—and effective treatments.

Susan Cohen is a New York freelance writer. She contributes regularly to Gluten-Free Living.

Celiac can manifest itself in many ways. For some individuals, their symptoms occur on the skin in a condition known as dermatitis herpetiformis (DH). In these instances, the path to a celiac diagnosis begins with the diagnosis of DH.

Dermatitis Herpetiformis Symptoms

DH has a specific set of symptoms. Patients will have “bumps or blisters…clustered together…[that] appear bilaterally on the forearms, elbows, knees, buttocks and hairline,” explains Robyn Gmyrek, M.D., board-certified dermatologist at Union Square Laser Dermatology in New York. The “bilateral” appearance she refers to means that a patient’s DH symptoms will develop, for example, on both knees.

According to Nicole Seminara, M.D., assistant professor in the Ronald O. Perelman Department of Dermatology at NYU Langone Medical Center, the bumps and blisters characteristic of DH are “intensely itchy [and] people usually scratch them off before they ever present to a doctor.” As a result, Seminara says, “It’s uncommon to see an intact blister with this disorder.”

Instead, patients’ skin will “look like [it has] been scratched to pieces,” notes Seminara. When no bumps or blisters are present, “it’s more the history of intense itch coupled with the distribution that leads us to the diagnosis [of DH]. The diagnosis is then confirmed with a biopsy.” Another important aspect of DH is age. It tends to develop in patients who are in their 30s or 40s.

The Celiac Link

The connection between DH and celiac is something dermatologists “are very aware of…and take very seriously,” says Seminara. “If I have a patient with DH,” she says, he or she is “always sent to [a gastroenterologist]” to be tested for celiac.

“The great majority of patients with DH have celiac disease as defined by duodenal biopsy showing villous atrophy,” explains Benjamin Lebwohl, M.D., M.S., director of clinical research at The Celiac Disease Center at Columbia University. “The remainder may have a normal- or near-normal-appearing duodenal biopsy but nevertheless have their DH triggered by dietary gluten, which is why DH is sometimes referred to as ‘celiac disease of the skin.'”

As is often the case with celiac symptoms, the potential for misdiagnosis is high. “This is because not all people with DH will have typical lesions, and the rash may come and go,” explains Gmyrek. The rash can be misidentified and “is commonly diagnosed as eczema or an allergic contact dermatitis by both patients and physicians.” She says that “if you have been diagnosed with eczema, have a lot of itching and you are not responsive to topical treatments…you should consider getting tested for celiac disease and biopsied to rule out DH.”

The Key to Relief

When it comes to healing DH, the gluten-free diet is key—as is patience. “[Patients] have to be very strictly gluten free, and [the healing is] a slow process,” says Seminara.

Gmyrek also emphasizes the importance of patients being aware of the healing timetable. “Patients need to know this because they expect that within a week or two of being gluten free, the rash will be gone or they will stop getting new lesions,” explains Gmyrek. That expectation can cause problems because when the lesions have not gone away soon after starting the diet, patients think “that they must somehow be getting gluten in their diet because the rash is not gone yet.” In fact, Gmyrek says, “It can take one to two years even with a strictly gluten-free diet for the skin rash to totally resolve.”

The drug Dapsone can help ease discomfort caused by the rash. “[Dapsone] decreases the body’s immune response and therefore the rash,” says Gmyrek. “Patients feel relief within 48 to 72 hours of taking this medication.” However, the drug does not replace a gluten-free diet. “Taking Dapsone does not cure DH [because] only a gluten-free diet forever will rid the patient of DH,” says Gmyrek.

Even when strictly adhering to the diet, skin lesions may still appear. Gmyrek points out that iodine, which is important to normal thyroid health, “will often cause skin lesions in patients with DH.” She emphasizes that “iodine does not adversely affect patients with celiac disease who do not have DH and should not be eliminated in those patients.” For those with DH, Gmyrek recommends that “patients use non-iodized table salt or sea salt, which has less iodine than iodized table salt, until their DH has resolved.”

Many women wonder about issues regarding celiac and pregnancy. When it came to trying to get pregnant, Brynne Cramer had some worries. “Because I have celiac disease, I was initially very concerned about my ability to conceive and carry a healthy baby to full-term,” says Cramer, who runs the blog Gluten-Free Hungry Gal.

Symptoms of undiagnosed celiac disease include infertility and recurrent miscarriage. Cramer was diagnosed four years prior to trying to conceive. But she was still anxious over the impact celiac might have on her fertility and a pregnancy. “I was very nervous,” she explains. “It’s part of the reason we decided to start trying for a baby at a younger age [26].”

Given infertility and miscarriage are symptoms of undiagnosed celiac disease, it’s logical to question whether they could extend into diagnosed celiac. Would these issues continue once diagnosed and adhering to a gluten-free diet? Expanding upon that initial thought, a larger question arises about whether diagnosed celiac fits into pregnancy: Do celiac disease and the gluten-free diet affect pregnancy?

Undiagnosed vs. diagnosed

The risks associated with pregnancy are different before after a celiac diagnosis. “Most of the issues that have been described regarding pregnancy outcomes in celiac disease have been found in undiagnosed celiac disease,” explains Benjamin Lebwohl, M.D., M.S., director of clinical research at The Celiac Disease Center at Columbia University, by email. “That is to say, patients with undiagnosed [and therefore untreated] celiac disease appear to have an increased risk of outcomes such as miscarriages or difficulty conceiving.”

As Lebwohl notes, “The cause of infertility and pregnancy complications in people with undiagnosed celiac disease is not certain, but there are a number of explanations.” Current knowledge centers around how celiac affects the body. “Chronic inflammation and/our malnourishment in the mother may be poorly conducive to successful pregnancy. In addition, laboratory studies have shown that the antibody in celiac disease [tissue transglutaminase] may bind to placenta cells and cause harm”

Following diagnosis, the risk changes. “In those with diagnosed celiac disease who have already started the gluten-free diet, the risk largely goes away,” Lebwohl says. The good news, he explains, is that once diagnosed, “much of the worrisome information out there about fertility and birth outcomes is thankfully no longer relevant.”

Even with such a marked reduction in risk, could length of time from diagnosis factor into conception or pregnancy? For example, will a pregnant woman who was diagnosed a number of years ago and has already done a great deal of gut healing on the gluten-free diet have fewer complications than a pregnant woman who was only recently diagnosed and whose gut is still healing?

“A few years ago, we [The Celiac Disease Center at Columbia University] published an analysis of Swedish patients, comparing women whose intestines had healed to those who had persistent intestinal damage [possibly due to occasional gluten exposure], and found no differences in birth outcomes,” explains Lebwohl. “In both groups, the rates of miscarriage or premature birth were quite low, actually. This underscores the idea that the main time of increased risk is before a celiac disease diagnosis.”

The key to a pregnancy with celiac—and is the key to the disease in general—is adherence to the gluten-free diet and consistent follow-up care. “It is important to stick to a strict gluten-free diet prior to and during pregnancy, and to be up to date with routine celiac antibody and nutrient checks,” advises Lebwohl.

The gluten-free diet and pregnancy

Depending on factors such as ingredients and the absence or presence of nutrients, gluten-free products can be less nutritious than their gluten equivalents. This raises the question of whether a woman with diagnosed celiac needs to approach her prenatal care differently because she is on a gluten-free diet.

“Though the gluten-free diet can sometimes be a vitamin-deficient diet, and folic acid is a particular concern with regard to the developing fetus, the recommendation is the same for celiac patients as non-celiac patients: take a daily prenatal multivitamin,” says Lebwohl.

Folic acid, found in fortified foods such as cereal and in vegetables such as leafy dark greens, is crucial in general, and especially during pregnancy. As the Centers for Disease Control and Prevention (CDC) states on its website, “Folic acid is a B vitamin. Our bodies use it to make new cells. Everyone needs folic acid.” When it comes to pregnancy, the CDC explains, “Folic acid is very important because it can help prevent some major birth defects of the baby’s brain and spine (anencephaly and spina bifida).”

The nutritional focus during pregnancy is the same regardless of whether one needs to eat gluten free. “All women need to be conscious of their nutrition when they are pregnant,” explains Amy Jones, M.S., R.D., L.D. “Ideally, getting your nutrition in order before you get pregnant is best.” For someone with celiac, this would mean “being well controlled on the gluten-free diet” as this “can go a long way in helping to ensure a healthy pregnancy.” Should a woman have any nutritional deficiencies, Jones says to “work with your physician and dietitian to get those corrected, ideally, before you conceive.”

Regardless of celiac, pregnant women often experience constipation in their second or third trimester. For alleviating constipation, Jones points out that “the higher fiber of whole grains may be beneficial.” When eating gluten-free whole grains, Jones says, “be sure to drink enough fluid when you are consuming high-fiber foods.” The benefits of gluten-free whole grains extend beyond fiber. “For example, teff has a lot of calcium, and quinoa has a lot of iron and protein,” Jones notes.

The calcium found in teff and dairy products is an important nutrient during pregnancy. Jones mentions that “for pregnant women who have celiac disease who may be lactose intolerant, it’s important to find a good source of calcium and vitamin D.” For those who can tolerate some lactose, she points to yogurt and cheese, which are both low in lactose. “Supplementation of calcium and vitamin D may be necessary as well,” she says.

Welcome news

Cramer learned firsthand that her diagnosed celiac did not prevent her from getting pregnant or carrying a baby to term. “To my surprise, we got pregnant very quickly,” says Cramer. “I was anxious at every appointment,
but things kept checking out wonderfully.”

Throughout her pregnancy, Cramer found herself feeling like “a typical pregnant woman.” This included enjoying random indulgences—buffalo sauce and chocolate milk. She recommends that pregnant women with celiac “find what gluten-free foods hit the spot and indulge every once in a while. We give up so much already as celiacs—depriving yourself during pregnancy seems silly.”

Cramer and her husband welcomed a beautiful and healthy baby girl last summer.

Susan Cohen is a New York freelance writer. She contributes regularly to Gluten-Free Living.

Photos: SYDA Productions / Shutterstock; Africa Studio / Shutterstock

The list of symptoms related to celiac disease covers the entire body. While gastrointestinal symptoms are often at the forefront, the nervous system can also be affected by the disease.

But many patients with neurological symptoms and their doctors don’t make the connection.

“There is a lack of general awareness of the neurological manifestations of celiac disease among patients as well as physicians,” explains Norman Latov, M.D., Ph.D., a professor of neurology and neuroscience and the director of the Peripheral Neuropathy Clinical and Research Center at Weill Cornell Medical College.

“Adult patients often present with neurologic symptoms in the absence of gastrointestinal symptoms, so celiac disease may not come to mind,” according to Latov, who has a clinical and research interest in peripheral neuropathy and has done celiac disease research.

Small fiber neuropathy is the common symptom involving the nervous system. “It typically presents with numbness, tingling or painful burning, stinging or electric-shock like sensations, usually in the arms or legs, but sometimes [in] the torso or face,” Latov says. Small fiber neuropathy can also cause dizziness or feeling faint when standing up, sexual dysfunction, abnormal sweating, bladder symptoms, hair loss or skin changes.

General lack of familiarity with small fiber neuropathy complicates the picture for patients with undiagnosed celiac disease. Their symptoms are often dismissed or misdiagnosed as fibromyalgia, so the association with celiac disease may be missed, according to Latov.

And small fiber neuropathy is only one of the neurological symptoms of celiac disease. “Less-common neurological conditions include cerebellar ataxia with unsteadiness or incoordination, seizures or neuropsychiatric disorders,” he says. Headaches are another potential symptom, but their prevalence adds a layer of complexity when it comes to diagnosis. “Headaches are common in the general population, however, so that it’s difficult to know whether gluten is the cause or only an aggravating factor,” Latov says.

The presence of neurological symptoms raises questions about whether there is a connection between the brain and the gut.

 “As in the gut, the neurological manifestations are also thought to also be due to inflammation,” Latov notes. Currently there are two theories on why neurological symptoms develop. In both, Latov says, “stimulation of the immune system by gluten in the diet would increase the inflammation in both the gut and nervous system.”

The good news is neurologists are beginning to become more aware of this brain-gut connection. “It is improving but very slowly,” Latov says, noting education of both patients and doctors is important. “Perhaps with greater awareness, neurologists will play a larger role in the diagnosis of celiac disease.”

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