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
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 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.
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.