Diagnosis Dilemma: Eating Gluten Again to Test for Celiac Disease

To diagnose celiac disease, the only sure way to determine whether a person has it is with a blood test and biopsy. A definitive blood test and biopsy can only be performed when a patient is eating gluten. Test results for someone following a gluten-free diet for any length of time are rendered inaccurate.

Many people face a dilemma when they decide to go gluten-free diet first, before getting tested for celiac disease, and then feel better. Then, in order to be tested for celiac disease, they must start eating gluten all over again.

Getting sick to get tested

Some people are unwilling to make themselves sick in an attempt to distinguish between having celiac disease or benefitting from the gluten-free diet due to gluten sensitivity or for another reason. Social media is full of comments from people who say they will not risk their health or endure a return of symptoms to get that answer.

Experts at celiac disease centers routinely advise those who have symptoms or family members with celiac disease to be tested before starting a gluten-free diet. And celiac awareness organizations have been trying to spread that word, too.

Alessio Fasano, M.D., chief of the division of pediatric gastroenterology and nutrition at MassGeneral Hospital for Children in Boston and director of its Center for Celiac Research and Treatment, is outspoken about how serious it is to begin a gluten-free diet without testing. He has repeatedly drawn a comparison with the treatment for diabetes to make his point, saying no one would consider taking insulin because they have symptoms of the disease without first getting tested. 

The gold standard test for celiac disease is the anti-tissue transglutaminase (tTG-IgA) test. If this test is positive, it’s recommended that an upper endoscopy, in which six duodenal biopsies are taken, be done.

Accurate diagnosis provides real benefits for individuals and for the celiac disease population at large. Celiac disease involves complications that even gluten sensitivity does not, especially for those who cheat on the diet.

If someone knows they have celiac disease, they are often more motivated to keep to a strict form of the diet. And if the diagnosis rate for celiac disease, which currently stands at about 80 percent of those who actually have it, can be improved, money for research and interest in treatments and cures is likely to follow.

It’s just hard to see it that way when a return to a gluten-containing diet means weeks of facing returning symptoms that can be severe.

Recommendations vary on how long a patient must consume gluten, with the University of Chicago Celiac Disease Center advising 12 weeks of eating a half slice of bread or a cracker prior to blood tests and two weeks prior to a biopsy. The Celiac Center at Beth Israel Deaconess Medical Center says gluten should ideally be reintroduced for six to eight weeks. If the challenge is found to be intolerable, blood tests and a biopsy can be done earlier, but this can lead to a false negative result, according to the center.

These time frames can cause difficulties for patients. Cheryl Harris, a registered dietitian who specializes in celiac disease, says symptoms can develop early in the process.  

Why testing does not come first

One of the reasons people don’t get tested in the first place is that many frontline physicians seem unaware of the need and may recommend just trying the gluten-free diet, assuming it can’t hurt. 

The picture can be complicated further when a physician tests a patient for celiac disease when he or she is already following the diet, again unaware of the impact that has on diagnosis.

Jane Santucci, of Terre Haute, Indiana, knows this quandary well. After four years of stomach illness, her doctor told her she suffered from a common catch-all disease, irritable bowel syndrome. Santucci had already gone through a colonoscopy and upper endoscopy and says she was told her stomach lining was badly damaged and she should only eat low-fat foods.

When she heard a Super Bowl interview with NFL quarterback Drew Brees in which he talked about being gluten free, she wondered if gluten could be her problem, too. She decided to try the gluten-free diet.

Six months later her doctor tested her for celiac disease and the results were negative.  Santucci now has no intention of going back for more tests and is happy continuing to eat gluten free because she now feels fine. “I don’t have to feel self-conscious or rearrange my plans because of a crazy stomach,” says Santucci.  

While Santucci has no intention of consuming gluten again, celiac disease experts note that without a proper diagnosis patients put themselves at risk because they aren’t routinely screened for complications. They also don’t get proper nutritional support in the case of accidental ingestion, malabsorption issues or nutritional deficiencies.

Taking the challenge

Megan Stetzel of upstate New York did go through a gluten challenge and get tested even though she had originally put herself on the gluten-free diet after doctors couldn’t figure out what was wrong with her.

When Stetzel was 21 she started having severe digestive problems. She saw a primary care doctor, gastroenterologist and psychologist as she attempted to determine what was causing her to have diarrhea, heartburn, acid reflux, extreme weight loss, canker sores and loss of her fingernails. Eventually, she turned to the gluten-free diet.

Later her doctor recommended she consume gluten again to get a diagnosis, which she did for two weeks, during which she experienced numerous symptoms. “I felt awful,” she says. “It was very difficult to [eat gluten] thinking it was the issue…It was very mentally taxing.”

Her endoscopy and biopsy showed “irrefutable” evidence of celiac disease.

But sometimes patients who try to resume a gluten-containing diet and get properly diagnosed give up.

Kelly Thomas of Bogart, Georgia, originally went gluten free when her son was diagnosed with celiac disease about 5 years ago. Though blood work done at the time was negative, genetic testing showed she had the genes for celiac disease. Other family members, including her daughter, brother and niece, subsequently tested positive for celiac disease.

Thomas decided to go off the gluten-free diet in order to determine whether she, too, had the condition. She knew from her own research that she should eat gluten for 12 weeks, but her symptoms returned in half that time, and she had the blood tests done. The results were negative. Still Thomas is certain she has celiac disease, and she continues on the gluten-free diet. “I wish I had had the fortitude to continue for the recommended 12 weeks, ” she says.

Genetic testing        

Genetic testing is one option for those who are already gluten free and struggling with the thought of eating gluten again. Daniel Leffler, M.D., director of research at the Beth Israel celiac center, says the center routinely recommends genetic testing as a step toward deciding whether to move forward and go off the gluten-free diet to get an accurate celiac disease diagnosis.

Those who have celiac disease virtually always have the DQ2 and DQ8 genes, and genes are not affected by the diet. If you don’t have the genes, it’s nearly certain you don’t have celiac disease. If you do have the genes, it does not mean you do have celiac disease, only that the potential exits.

If the genes are present, the patient might seriously consider going off the gluten-free diet and getting further testing, Leffler says. But if the genes are not present, the patient might see less of a need. 

Overall those with a family history of celiac disease do have a greater chance of being screened early, sometimes before they are symptomatic and often before they have started a gluten-free diet.

Gluten sensitivity

Celiac disease experts are seeking celiac disease tests that would be accurate even if a patient is already on the gluten-free diet. Researchers are also looking for bio-markers to accurately diagnose gluten sensitivity.

Click here to learn more about gluten sensitivity.

Currently gluten sensitivity is a diagnosis of omission, coming after celiac disease and a wheat allergy have been ruled out through testing. The diagnosis is made after a gluten-free diet is initiated and symptoms improve. This process should take place under the direction of a physician.

Awareness is key

Diet is the only treatment for celiac disease and gluten sensitivity. That means it’s in the hands of patients more than doctors and drug companies. So perhaps it follows that patients, many frustrated by the ongoing symptoms and lack of answers, take diagnosis into their own hands, too.

It’s estimated that it still takes six to 10 years to get a celiac disease diagnosis. Patients and physicians, from family practitioners to gastroenterologists, all need to be aware of the importance of quick, accurate celiac disease testing in all cases that warrant it before the gluten-free diet comes into the picture.

Are Bacteria to Blame?

The possible role of bacteria in inflammation
resulting from gluten ingestion

By Kyrsten Bean

Groundbreaking research has been making headway, speaking to the possible influence of gut bacteria on celiac disease. In my own experience as a person with celiac disease, my health can be tipped completely off balance by ingesting gluten. But I’ve also noticed that when I eat gluten by accident, my mouth tastes different, my stomach bloats, digestion slows, and I feel sluggish and tired—all symptoms of bacterial overgrowth, according to the journal Gastroenterology and Hepatology.

A June 2016 study published in Gastroenterology speaks directly to this possibility. Researchers at McMaster University discovered that bacteria can metabolize gluten. More specifically, scientists from the Family Digestive Health Research Institute discovered that mice with the bacterium Pseudomonas aeruginosa (Psa for short), which is found in the gut of those with celiac disease, metabolize gluten differently than those treated with lactobacillus. They found that lactobacillus detoxified gluten while Psa caused inflammation. Could this cause the symptoms that I and many other celiac patients have experienced firsthand?

Bacteria“We know that up to 40 percent of most populations have a genetic disposition to celiac disease,” says Dr. Elena Verdu, senior author of this recent study and an associate professor of medicine for the Michael G. DeGroote School of Medicine at McMaster, “but only a minority develop the autoimmune condition when exposed to gluten, suggesting there could be other environmental factors that affect celiac risk.”

Previous research by Verdu, published in the American Journal of Pathology in 2015, directly correlated intestinal microbiota changes to increased celiac disease risk in mice. Although it’s too early to jump to conclusions, this exciting news will hopefully lead to breakthroughs in the world of celiac disease and gluten sensitivity. “The results may help us develop strategies to prevent these disorders, but more research is needed,” says Verdu.

According to Verdu’s most recent paper, “When we analyzed the chemistry of gluten metabolism by Psa and lactobacillus, we found that Psa produced gluten sequences that stimulated inflammation in celiac patients, while lactobacillus were able to detoxify gluten.” However, says Verdu, the results have to be considered in the greater context of what is currently known of celiac disease pathogenesis. Gluten exposure causes celiac disease in those who are genetically predisposed, but bacteria in the gut could tip the balance between some people developing the disease and others staying healthy.

Repopulating your gut bacteria

Jennifer Finke, a certified holistic health and nutrition coach in Englewood, Colorado, has had personal experience with bacterial overgrowth due to gut bacteria. Diagnosed with celiac disease, Finke didn’t improve on a gluten-free diet alone. “I decided to turn my diet around. I realized that I had candida, or yeast and bacteria, built up in my gut. I repopulated my gut with beneficial bacteria via probiotics, limited my sugar intake [sugar feeds bad bacteria and yeast], and started eating clean, healthy foods like organic veggies and organic meats,” says Finke. After just a few days of taking probiotics and limiting sugar, she started to feel better than she had when merely quitting gluten alone. Although it’s difficult to scientifically corroborate these results as of today, anecdotal stories such as Finke’s abound.

A diagnosis of small intestinal bacterial overgrowth (SIBO), a disorder of excessive bacterial growth in the small intestine, has been reached more frequently in recent years. Unlike the colon, which is rich with bacteria, the small bowel usually has fewer than 10,000 organisms per milliliter. Patients with bacterial overgrowth typically develop symptoms including nausea, bloating, vomiting, diarrhea, malnutrition, weight loss and malabsorption.

Margaret Romero, a board-certified nurse practitioner with an integrative medical practice in New York, treats individuals with SIBO, which she has suffered from herself. She suspects that many individuals have bloating from unsuspected SIBO as well as undiagnosed celiac or gluten sensitivity. “Probiotics along with [herbal or prescription] treatment is necessary. Eradicating the bacteria and not feeding [them] gluten, among other things, is the key to optimal recovery,” says Romero.

Weakened intestinal barrier

A 2016 study in Gut looked into the correlation between a weakened intestinal barrier in those with celiac disease and the ability of microbes to enter the body. Armin Alaedini, an assistant professor of medicine at Columbia University in New York City and the main researcher behind this study, had previously found strong evidence of a weakened intestinal barrier in those with gluten sensitivity, with results published in Gut in 2014.

“The take-home message of our study’s findings is that there are objective biological changes in a significant number of individuals who report sensitivity to wheat without having celiac disease, including markers of intestinal cell damage and systemic immune activation,” says Alaedini. “Our findings should help with the recognition that there may be a biological basis for the symptoms experienced by patients who complain of wheat sensitivity, even in the absence of celiac disease and wheat allergy.” Currently, the only way to diagnose non-celiac wheat sensitivity is through thorough clinical examination involving food restriction and a food challenge. Alaedini’s work shows that affected patients experience clear biological changes. These changes are associated with certain biomarkers and therefore, he says, a blood test may become available in the future for diagnosing patients. “As we learn more about the potential mechanisms involved in non-celiac wheat sensitivity, we will also hopefully be able to identify and evaluate
effective new treatment strategies,” says Alaedini.

According to Alaedini, more research is needed, and future work will need to focus on investigating the underlying mechanism and triggers responsible for the breach of the intestinal barrier, such as the involvement of specific wheat protein sequences, genetic susceptibility and the role of the gut flora. “Considering the number of people believed to be affected by this condition and the significant impact on patients’ health, this is an important area of research
that deserves significantly greater attention and funding,”
says Alaedini.GF

Kyrsten Bean is a freelance writer and musician based in Oakland,
California. Her stories have appeared in Paleo Magazine, Oakland
Magazine and others.

Diagnosis Dilemma

Ten years ago Jeff Carlson, an orthopedic surgeon in Newport News, Virginia, was 38 years old and sicker than he’d ever been.

For seemingly no reason, his throat closed off in reaction to ulcers that caused his tonsils to swell. The first attack was so severe he had to receive IV fluids in the recovery room of the hospital in order to continue working. Surrounded by experts in every conceivable type of illness, he sought solutions to no avail.

After two years of the throat problems and batteries of tests, he still hadn’t found an answer to his frequent flare-ups. He began to worry that he had contracted hepatitis or AIDS from routine handling of sick patients with traumatic bloody bone injuries.

But every test came back completely normal despite frequent flare-ups, and he eliminated entire food groups in an attempt to stop the ulcers, to no avail. Physicians and colleagues were stumped.

Desperate, he ended up following the advice of yet another doctor friend, a gastroenterologist, who suggested he go on the gluten-free diet. When he gave up gluten, the symptoms vanished completely. But every time he accidently ingested gluten, the symptoms came back with vengeance.

Meanwhile Carlson’s doctors were encouraging him to get an official celiac disease diagnosis. He has resisted, however, based on a loophole specific to celiac disease.

A definitive blood test and biopsy can only be performed when a patient is eating gluten.

Test results for someone following a gluten-free diet for any length of time are rendered inaccurate.

Carlson faces a dilemma common to those who decide to go on the gluten-free diet first, before getting tested for celiac disease. “Why [would] I want to have throat pain and a horrible week, when I know the problem? Stay away from gluten,” Carlson says.

Getting sick to get tested

He’s not alone in being unwilling to make himself sick in an attempt to distinguish between having celiac disease or benefitting from the gluten-free diet due to gluten sensitivity or for another reason. Social media is full of comments from people who say they will not risk their health or endure a return of symptoms to get that answer.

Experts at celiac disease centers routinely advise those who have symptoms or family members with celiac disease to be tested before starting a gluten-free diet. And celiac awareness organizations have been trying to spread that word, too.

Alessio Fasano, M.D., chief of the division of pediatric gastroenterology and nutrition at MassGeneral Hospital for Children in Boston and director of its Center for Celiac Research and Treatment, is outspoken about how serious it is to begin a gluten-free diet without testing. He has repeatedly drawn a comparison with the treatment for diabetes to make his point, saying no one would consider taking insulin because they have symptoms of the disease without first getting tested.

The gold standard test for celiac disease is the anti-tissue transglutaminase (tTG-IgA) test. If this test is positive, it’s recommended that an upper endoscopy, in which six duodenal biopsies are taken, be done.

Accurate diagnosis provides real benefits for individuals and for the celiac disease population at large. Celiac disease involves complications that even gluten sensitivity does not, especially for those who cheat on the diet.

If someone knows they have celiac disease, they are often more motivated to keep to a strict form of the diet. And if the diagnosis rate for celiac disease, which currently stands at about 80 percent of those who actually have it, can be improved, money for research and interest in treatments and cures is likely to follow.

It’s just hard to see it that way when a return to a gluten-containing diet means weeks of facing returning symptoms that can be severe.

Recommendations vary on how long a patient must consume gluten, with the University of Chicago Celiac Disease Center advising 12 weeks of eating a half slice of bread or a cracker prior to blood tests and two weeks prior to a biopsy. The Celiac Center at Beth Israel Deaconess Medical Center says gluten should ideally be reintroduced for six to eight weeks. If the challenge is found to be intolerable, blood tests and a biopsy can be done earlier, but this can lead to a false negative result, according to the center.

These time frames can cause difficulties for patients. Cheryl Harris, a registered dietitian who specializes in celiac disease, says symptoms can develop early in the process. “Symptoms often show up in an hour or a few days; a significant anti-body response may take weeks,” she notes.

Why testing does not
come first

One of the reasons people don’t get tested in the first place is that many frontline physicians seem unaware of the need and may recommend just trying the gluten-free diet, assuming it can’t hurt.

“People are continuously hearing from the media, friends and even health professionals that the tests are inaccurate and that it’s better to simply go gluten-free,” Harris says. “Often once they feel better, it’s an extremely hard-sell to go back to eating gluten.”

The picture can be complicated further when a physician tests a patient for celiac disease when he or she is already following the diet, again unaware of the impact that has on diagnosis.

Jane Santucci, of Terre Haute, Indiana, knows this quandary well. After four years of stomach illness, her doctor told her she suffered from a common catch-all disease, irritable bowel syndrome. Santucci had already gone through a colonoscopy and upper endoscopy and says she was told her stomach lining was badly damaged and she should only eat low-fat foods.

When she heard a Super Bowl interview with NFL quarterback Drew Brees in which he talked about being gluten free, she wondered if gluten could be her problem, too. She decided to try the gluten-free diet.

Six months later her doctor tested her for celiac disease and the results were negative. Santucci now has no intention of going back for more tests and is happy continuing to eat gluten free because she now feels fine. “I don’t have to feel self-conscious or rearrange my plans because of a crazy stomach,” says Santucci.

Anne Sarkisian, 73, of New London, New Hampshire, originally went gluten free in support of her grandson when he was diagnosed with celiac disease.

She felt better than she had in her 40s, even dropping a significant amount of weight. When she learned that celiac disease is genetic, she was curious to know who else in her family had the condition. But all of the members of her family who had the blood test got negative results.

Sarkisian sought additional testing for herself, but her doctor never asked about the gluten-free diet. Since she had been following it, she realized her results may have been a false negative and decided to go off the diet and re-test.

However, after two months, a return of symptoms and weight gain caused her to go back to the gluten-free diet. Her tTG test was negative, but she tested positive on the anti-gliadin antibodies (AGA) test. “The doctor left me a message that this was consistent with celiac [disease],” Sarkisian says. “The numbers must have been quite high.”

According to the University of Chicago’s celiac disease center the AGA test cannot be relied on to diagnose celiac disease, as patients with non-celiac gluten sensitivity, patients with IBS and no gluten sensitivity and individuals who are in completely good health may all turn up with a positive (or negative) AGA.

Still Sarkisian’s doctor officially diagnosed her with celiac disease. Since returning to the gluten-free diet, Sarkisian’s symptoms have again gone away. Her experience has made her suspicious of traditional testing and prompted her to research and write about the topic. “At 73 I am in much better health than when I was in my 40s. I am never sick and have great energy,” she says.

While Santucci, Carlson and Sarkisian say they have no intention of consuming gluten again, celiac disease experts note that without a proper diagnosis patients put themselves at risk because they aren’t routinely screened for complications. They also don’t get proper nutritional support in the case of accidental ingestion, malabsorption issues or nutritional deficiencies.

Taking the challenge

Megan Stetzel of upstate New York did go through a gluten challenge and get tested even though she had originally put herself on the gluten-free diet after doctors couldn’t figure out what was wrong with her.

When Stetzel was 21 she started having severe digestive problems. She saw a primary care doctor, gastroenterologist and psychologist as she attempted to determine what was causing her to have diarrhea, heartburn, acid reflux, extreme weight loss, canker sores and loss of her fingernails. Eventually, she turned to the gluten-free diet.

Later her doctor recommended she consume gluten again to get a diagnosis, which she did for two weeks, during which she experienced numerous symptoms. “I felt awful,” she says. “It was very difficult to [eat gluten] thinking it was the issue…It was very mentally taxing.”

Her endoscopy and biopsy showed “irrefutable” evidence of celiac disease, and Stetzel has now been gluten free for seven years.

But sometimes patients who try to resume a gluten-containing diet and get properly diagnosed give up.

Kelly Thomas of Bogart, Georgia, originally went gluten free when her son was diagnosed with celiac disease about 5 years ago. Though blood work done at the time was negative, genetic testing showed she had the genes for celiac disease. Other family members, including her daughter, brother and niece, subsequently tested positive for celiac disease.

About a year ago Thomas decided to go off the gluten-free diet in order to determine whether she, too, had the condition. She knew from her own research that she should eat gluten for 12 weeks, but her symptoms returned in half that time, and she had the blood tests done. The results were negative. Still Thomas is certain she has celiac disease, and she continues on the gluten-free diet. “I wish I had had the fortitude to continue for the recommended 12 weeks,” she says.

    

Genetic testing         

Genetic testing is one option for those who are already gluten free and struggling with the thought of eating gluten again. Daniel Leffler, M.D., director of research at the Beth Israel celiac center, says the center routinely recommends genetic testing as a step toward deciding whether to move forward and go off the gluten-free diet to get an accurate celiac disease diagnosis.

Those who have celiac disease virtually always have the DQ2 and DQ8 genes, and genes are not affected by the diet. If you don’t have the genes, it’s nearly certain you don’t have celiac disease. If you do have the genes, it does not mean you do have celiac disease, only that the potential exits.

If the genes are present, the patient might seriously consider going off the gluten-free diet and getting further testing, Leffler says. But if the genes are not present, the patient might see less of a need.

Overall those with a family history of celiac disease do have a greater chance of being screened early, sometimes before they are symptomatic and often before they have started a gluten-free diet.

Gluten sensitivity

Celiac disease experts are seeking celiac disease tests that would be accurate even if a patient is already on the gluten-free diet. A new blood test that has the potential to be highly accurate even for people who have gone on a gluten-free diet will likely be available in two to three years, according to some estimates. The test identifies gluten-reactive T cells rather than antibodies. The research is being done at the University of Oslo, where a large-scale clinical trial is now underway.

Researchers are also looking for bio-markers to accurately diagnose gluten sensitivity.

Gluten sensitivity began as a catch-all description used by those who put themselves on a gluten-free diet and felt better. Once disregarded by the medical community, it has been accepted as a true medical condition, though some controversy remains over whether the problem is gluten or FODMAPS (fermentable oligo-, di-, monosaccharides and polyols).

Currently gluten sensitivity is a diagnosis of omission, coming after celiac disease and a wheat allergy have been ruled out through testing. The diagnosis is made after a gluten-free diet is initiated and symptoms improve. This process should take place under the direction of a physician.

Awareness is key

Diet is the only treatment for celiac disease and gluten sensitivity. That means it’s in the hands of patients more than doctors and drug companies. So perhaps it follows that patients, many frustrated by the ongoing symptoms and lack of answers, take diagnosis into their own hands, too.

It’s estimated that it still takes six to 10 years to get a celiac disease diagnosis. Patients and physicians, from family practitioners to gastroenterologists, all need to be aware of the importance of quick, accurate celiac disease testing in all cases that warrant it before the gluten-free diet comes into the picture. GF

Kyrsten Bean is a freelance writer and musician based in Oakland,
California. Her stories have appeared in
Paleo Magazine, Oakland
Magazine and others.