May 2014 Issue
Silent Celiac Disease
By Judith C. Thalheimer, RD, LDN
Vol. 16 No. 5 P. 22
Learn more about this serious condition characterized by atypical signs, symptoms, and presentations that often hinder proper diagnosis and treatment.
A seemingly healthy 14-year-old boy visits his primary care physician for a routine checkup and is diagnosed with iron-deficiency anemia. A 41-year-old woman presents with severe osteoporosis. Neither patient has gastrointestinal (GI) symptoms, but after undergoing diagnostic tests, both are diagnosed with celiac disease.1
Celiac disease, an autoimmune reaction to the protein gluten, typically is considered a GI condition. However, the classic GI manifestations represent only a fraction of the possible symptoms that can emerge. Studies suggest that for every case of celiac disease that’s diagnosed because of noticeable symptoms, another eight cases go undetected.2 Patients who present with signs of the disease, such as iron-deficiency anemia, but have no GI symptoms are said to have subclinical or silent celiac disease.3
Nutrition professionals are perfectly positioned to spot silent celiac disease and prevent the long-term consequences it can cause if left untreated.
Celiac Disease’s Many Faces
Once thought to be a rare condition, celiac disease now is known to affect about 1% of Americans, or nearly 3 million people.4
“The classic gastrointestinal signs and symptoms of celiac disease include diarrhea, constipation, abdominal pain, bloating, gassiness, weight loss or weight gain, cramping, heartburn, nausea and vomiting, and lactose intolerance,” says Alicia Calvo, MPH, RD, CDE, owner of Alicia Calvo & Associates/Medical Nutrition Network and a board member of the Celiac Disease Foundation. “But everybody experiences celiac disease differently.”
For example, diarrhea often is considered a key characteristic, but only 50% of adults diagnosed with celiac disease have this symptom.2 “It’s very important to realize that celiac really isn’t a gastrointestinal disease; it’s an autoimmune condition,” says Marlisa Brown, MS, RD, CDE, a private practitioner in Bay Shore, New York, and the author of Gluten-Free, Hassle Free. “Add to that the fact that it causes an inflammatory condition, and you end up with a long list of different possible symptoms. There are no typical symptoms of celiac disease.”
Celiac disease can involve any organ system, and knowing which patients to refer for testing will require recognizing patterns in seemingly unrelated problems.3 Since celiac disease damages the intestinal lining, signs of malnutrition are common. Anemia often is the first clue that a patient isn’t absorbing nutrients properly. Signs of vitamin D and calcium malabsorption, such as hypocalcemia and muscle spasms, or coagulopathies from vitamin K deficiency may be present as well. Dental enamel problems have been reported in 20% to 70% of patients, and canker sores are common.2 Long-term malabsorption can lead to infertility or osteoporosis.3
In addition to signs of malnutrition, celiac disease can manifest as an inflammatory condition. For example, arthritis that generally resolves when a patient stops eating gluten has been reported in as many as 25% of celiac disease patients. Neurological and psychiatric disorders such as depression, migraines, and nerve damage have been reported with higher frequency in people with celiac disease.2 Some patients have liver enzyme abnormalities or liver disease that improves when gluten is removed from the diet.3
Certain autoimmune conditions, such as rheumatoid arthritis, Addison’s disease, Sjögren’s syndrome, and autoimmune thyroid and liver diseases, occur more frequently in those with celiac disease than in the general population, and individuals with Turner syndrome and Down syndrome more frequently have celiac disease. Those who present with any of these conditions should be tested.2,5
One of the most studied associations with celiac disease is type 1 diabetes, and the American Diabetes Association recommends screening for celiac disease when type 1 diabetes is diagnosed.2 “Patients with type 1 diabetes have a risk of approximately 10% for positive tissue transglutaminase antibodies, a diagnostic indicator for celiac disease,” says Jennifer M. Barker, MD, an associate professor of pediatrics in the division of pediatric endocrinology at the Children’s Hospital of Colorado. “About half of those patients will have celiac disease on biopsy. These patients often are asymptomatic. Treatment of celiac disease in patients with type 1 diabetes can be very complicated because of the requirement to follow very specific diets for both.”
Dermatitis herpetiformis, an itchy, blistering rash usually seen on the elbows, knees, buttocks, trunk, and neck, is one condition commonly associated with celiac disease that often responds well to a gluten-free diet. Many people with dermatitis herpetiformis have no GI symptoms; only about 40% have positive blood tests for celiac disease, although biopsy results from most patients will show the intestinal damage associated with celiac disease.2,4
Currently, celiac disease can be diagnosed with a blood test to determine whether autoantibodies (antibodies that attack the body’s own tissues or cells) are present, such as antitissue transglutaminase (tTG) antibodies or antiendomysium antibodies (EMA). A biopsy of the small intestine often is performed to confirm the diagnosis.5
While diagnosing celiac disease has improved, many hurdles still remain. For example, the signs and symptoms of celiac disease mimic those of other conditions, including irritable bowel syndrome (IBS), inflammatory bowel disease, diverticulitis, intestinal infections, iron-deficiency anemia caused by menstrual blood loss, and chronic fatigue syndrome, so misdiagnoses are common.5
“Many health care providers don’t recognize the more subtle signs of celiac disease,” Brown explains. “They don’t realize, for example, that celiac disease can cause weight gain as well as weight loss, so they often don’t even consider referring overweight or obese patients for testing. Even when patients are referred, some won’t get expensive tests such as endoscopies if there’s a high out-of-pocket expense.”
Moreover, the tests themselves aren’t 100% foolproof. While both tTG and EMA tests are known to have high specificity and sensitivity, they both look for immunoglobulin A (IgA) antibodies. About 2% to 5% of patients with celiac disease have an IgA deficiency, which could account for false-negative reports.3 Brown has seen patients who’d had negative blood tests and negative biopsies but later tested positive.
RDs on the Front Lines
Dietitians and other nutrition professionals are poised to help identify and treat people with silent or atypical celiac disease. “We often have more time with patients than other health care providers, and we might be able to pick up on more information than other providers and put the pieces together,” Brown says.
“Have there been stool changes? Do they have a history of nutritional deficiencies or autoimmune disease? What is their family history? Do they have FODMAPs or other food intolerances? Ask very pointed questions. If we listen, we might pick up things that have been overlooked,” she says.
Calvo uses this line of questioning with her patients and says that dietitians should “be aware of the less typical signs and symptoms and look for patterns: A patient is diagnosed with IBS but is anemic and has fertility problems. Has she been tested for celiac disease?”
Since celiac disease is genetic, looking for familial patterns also can help. RDs should ask whether there’s anyone else in the family who has celiac disease. Are there any unusual autoimmune diseases in the family?
In the book Gluten-Free, Hassle Free, Brown created an extensive list of signs, symptoms, and conditions that can be related to celiac disease (see sidebar for an excerpt). If a client has three or more symptoms, she directs them to a gastroenterologist for an evaluation.
Brown strongly advises against removing gluten from a client’s diet before some form of testing is performed. “Gluten is difficult to digest, and for some it can be an irritant in a more serious condition. Even if going gluten free makes them feel better, patients should be tested to confirm celiac and rule out other diseases so they don’t delay diagnosis of a serious condition,” she explains.
Treating Asymptomatic Disease
Currently, celiac disease’s only treatment is a lifelong gluten-free diet. Most people notice improvement in symptoms within days of starting the diet, although it may take several years for the intestines to completely heal in adults.4 Plus, consuming even a small amount of gluten can damage the small intestine. “Getting physically sick when eating gluten is a huge incentive for sticking to a strict gluten-free diet,” says Rachel Begun, MS, RDN, a gluten-free lifestyle expert and the author of The Gluten Free RD blog. “The person that is asymptomatic doesn’t have that incentive.”
According to Calvo, “Many asymptomatic people feel better after they go gluten free. They just didn’t realize that they weren’t supposed to be so tired all the time. But it can be difficult to adhere to a strict diet if you don’t see the benefit in your day-to-day life.”
Calvo offers the following tips for improving patient adherence to a gluten-free diet in asymptomatic and symptomatic disease: “Make the diet as well balanced and reasonable as possible so they feel satisfied. Find substitutes for carbohydrates, like amaranth, noncontaminated buckwheat, garbanzo bean flour, and wild rice. These high-fiber foods are satisfying, help with regulation, and provide the whole grain nutrition patients need. There are also more and more gluten-free products out there that you can incorporate. Knowing the grains that are gluten free and incorporating them into a well-balanced and wholesome diet can really make the diet doable.”
Still, there are special challenges involved in treating silent celiac disease. “If accidently ingesting gluten doesn’t cause someone any noticeable problems, it can be difficult for them to know if they’re eating something with hidden gluten or if their food has been cross-contaminated,” Brown says. Knowing the unusual places where gluten can hide, such as in medications, communion wafers, bouillon cubes, brown rice syrup, imitation crabmeat, and self-basting turkeys, and avoiding these foods is imperative for silent celiac disease patients.
Begun recommends that patients join a local celiac disease support group and sometimes introduces them to a gluten-free mentor. “Sometimes meeting another person who has experienced a secondary condition can be an incentive for the person that doesn’t experience symptoms,” she says.
The importance of identifying clients and patients with silent celiac disease and helping them learn to live gluten free can’t be overstated. “The long-term consequences to noncompliance can be quite serious,” Begun says. “Just because a person with celiac disease doesn’t experience outward symptoms when eating gluten doesn’t mean they’re out of harm’s way. Their intestines are undergoing the same damage when eating gluten as the person who does experience symptoms.”
Left untreated, celiac disease can lead to severe complications and nutritional deficiencies. Infertility, miscarriages, or intrauterine growth retardation all have been reported.3 Long-term nutritional deficiencies can lead to rickets, osteopenia, osteoporosis, and bone fractures. There’s even the risk of serious liver disease and GI cancers.2-4
However, by watching for patterns and asking the right questions, nutrition professionals can help bring these hidden cases out into the open and make a dramatic difference in the lives and futures of those living with silent celiac disease.
— Judith C. Thalheimer, RD, LDN, is a freelance nutrition writer, a community educator, and the principle of JTRD Nutrition Education Services.
Celiac Disease Symptoms
Bloating, gas, or abdominal pain
Bones that break easily
Bone or joint pain
Delayed growth as a child
Dental enamel problems
Depression or irritability
Diarrhea or constipation
Discolored teeth or enamel problems
Edema (swelling, especially found in hands and feet)
Failure to thrive (in children)
Frequent bowel movements
Inability to lose weight
Mouth sores and ulcers (canker sores)
Nutritional deficiencies (such as iron, calcium, or vitamins A, D, E, and K)
Skin problems and rashes
Tingling or numbness in hands and feet
Unexplained weight gain
Unexplained weight loss
— Reprinted with permission from Gluten-Free, Hassle Free, Second Edition by Marlisa Brown, MS, RD, CDE
1. Waldo RT. Iron-deficiency anemia due to silent celiac sprue. Proc (Bayl Univ Med Cent). 2002;15(1):16-17.
2. Barker JM, Liu E. Celiac disease: pathophysiology, clinical manifestations, and associated autoimmune conditions. Adv Pediatr. 2008;55:349-365.
3. Wakim-Fleming J. Celiac disease and malabsorptive disorders. Cleveland Clinic Center for Continuing Education website. http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/gastroenterology/celiac-disease-malabsorptive-disorders. Updated October 2012. Accessed February 27, 2014.
4. Overview of celiac disease. The University of Chicago Celiac Disease Center website. http://www.cureceliacdisease.org/wp-content/uploads/2011/09/CDCFactSheets1_Overview.pdf. Accessed February 24, 2014.
5. Celiac disease. National Digestive Diseases Information Clearinghouse website. http://digestive.niddk.nih.gov/ddiseases/pubs/celiac. Updated January 27, 2012. Accessed February 28, 2014.