Myths and Facts: Celiac Disease

More than one in 200 healthy individuals in the U.S. are diagnosed with celiac disease. The autoimmune disorder is triggered by dietary gluten that damages the villi (tiny finger-like projections that absorb nutrients from food) in the small intestine, leaving a smooth lining that can no longer absorb nutrients.^1,2

“Celiac” comes from the Greek word for “abdominal.”² Arataeus of Cappadocia was the first person to discover celiac disease in the second century, when he recorded a malabsorptive syndrome with chronic diarrhea, which he termed “coeliac affection.” His work gained attention when it was presented at the Sydenham Society in 1856 in which Arataeus described his “atrophied, pale, feeble and incapable-of-work” patient as having “stomach pain and diarrhea that manifested as loose stools that were white, malodorous and flatulent.” He believed it was an affliction of the old that more commonly affected women (and never affected children) due to a lack of heat in the stomach necessary to digest food and a reduced ability to distribute digestive products throughout the body.³

The link between wheat products and celiac disease wasn’t made until the 1940s by Dutch pediatrician Willem Dicke during the Dutch famine in 1944, when flour was sparse. Then, in 1954, the link between the gluten component of wheat was made, when British physician John W. Paulley was able to examine biopsies taken from patients during abdominal operations.³

Today, it is believed that many people have undiagnosed celiac disease as a result of misunderstandings on the part of physicians.¹ And, because this disease can cause serious complications if left undiagnosed, it is critical that the facts are separated from the myths about celiac disease so patients can be correctly and swiftly diagnosed and properly treated.

Separating Myth from Fact

MYTH: Celiac disease is merely a gastrointestinal (GI) disease that causes chronic diarrhea.

FACT: Celiac disease is not a GI disease. While classic symptoms include abdominal pain, abdominal distension, diarrhea and constipation, many patients with celiac disease lack any GI complications. Instead, they may experience many extraintestinal presentations, including dermatitis herpetiformis, permanent enamel hypoplasia, iron deficiency anemia that is resistant to oral iron therapy, short stature and/or delayed puberty, chronic hepatitis and hypertransaminasemia, primary biliary cirrhosis, arthritis, osteopenia/osteoporosis, epilepsy with occipital calcifications, primary ataxia, psychiatric disorders and infertility.¹

MYTH: Celiac disease is a childhood disease.

FACT: The condition affects both children and adults. In young children, celiac disease most commonly is detected typically months after cereals have been introduced to the diet. In older children and adults, the disease is frequently diagnosed following various challenges to the immune system such as infections, pregnancy and childbirth, and surgery.¹

MYTH: Celiac disease is genetic and, therefore, it can’t be prevented.

FACT: Celiac disease is an immune-mediated disease of the intestines that is triggered by the ingestion of gluten (the major protein component of wheat, rye and barley) in genetically susceptible individuals. Considerable progress has been made in identifying genes that play a role in celiac disease. It is now well known that celiac disease is strongly associated with specific HLA class II genes known as HLA-DQ2 and HLA-DQ8 located on chromosome 6p21.

Approximately 95 percent of celiac disease patients express HLA-DQ2, and the remaining patients are usually HLA-DQ8 positive. However, the HLA-DQ2 gene is common and is carried by approximately 30 percent of Caucasian individuals. Therefore, HLA-DQ2 or HLA-DQ8 is necessary for disease development, but not all people who have one of those genes will develop the disease; their estimated risk effect is only 36 percent to 53 percent.⁴

Some researchers believe that celiac disease may be triggered by the combination of having the gene(s) that make one susceptible, exposure to gluten and exposure to a toxin or an infection (such as a rotavirus). HLA tests for the HLA-DQ2 and HLA-DQ8 genes are commercially available from the following companies: Kimball Genetics (www.kimballgenetics.com), LabCorp (www.labcorp.com), Quest Diagnostics (www.quest diagnostics.com) and Specialty Laboratories (www.specialtylabs.com).⁴

Whether the disease can be prevented is an area of ongoing research. There is some evidence that introducing gluten while breastfeeding (and not before 4 months of age) may be helpful, and a rotavirus vaccine may help to prevent an infection that might trigger the disease. Because celiac disease has a genetic link, it is recommended that parents and siblings of individuals diagnosed with celiac disease be tested, regardless of whether they are showing any symptoms.²

MYTH: Celiac disease is rare.

FACT: An estimated 1 percent of the U.S. population (three million Americans) has celiac disease. Yet, because 20 percent to 30 percent of the world’s population has been found to carry the HLA-DQ2 or HLA-DQ8 gene associated with a genetic susceptibility to celiac disease, it is believed that 95 percent of celiacs still go undiagnosed.⁵

MYTH: Celiac disease has obvious symptoms.

FACT: Symptoms of the disease vary from person to person. Some exhibit no symptoms at all, while others suffer chronic symptoms. In children under 3 years old, the classic symptoms include abdominal pain and/or cramps, abdominal distension (bloating), diarrhea, constipation, nausea, vomiting, decreased appetite, increased fatigue, weight loss or poor weight gain, short stature or poor growth, and frequent mouth ulcers. Older children and adults often experience different symptoms, including delayed puberty, behavioral problems, iron deficiency, osteopenia/osteoporosis, hepatitis, arthritis, infertility, migraines, seizures and neuropathy.²

MYTH: Physicians are very aware of the symptoms of celiac disease and how to diagnose it.

FACT: In a survey conducted in 2005, researchers sought to determine physician awareness of celiac disease. Surveys completed by 2,440 (47 percent) of 5,191 patients in a support group were analyzed for frequency of diagnosis by physician specialties. In addition, questionnaires sent to 132 primary care physicians in a Southern California county were assessed to determine their knowledge of celiac disease. In patient surveys, only 11 percent were diagnosed by primary care physicians (PCPs — internists and family physicians) versus 65 percent by gastroenterologists. Physician surveys (70 percent response) showed that only 35 percent of PCPs had ever diagnosed celiac disease. Almost all physicians (95 percent) knew of wheat intolerance, but few (32 percent) knew that onset of symptoms of celiac disease in adulthood is common. Physicians were well aware (90 percent) of diarrhea as a symptom, but fewer knew of common symptoms of irritable bowel syndrome (71 percent), chronic abdominal pain (67 percent), fatigue (54 percent), depression and irritability (24 percent) or of associations with diabetes (13 percent), anemia (45 percent) or osteoporosis (45 percent), or of diagnosis by endomysial antibody tests (44 percent). The researchers’ conclusion: Lack of physician awareness of adult onset symptoms, associated disorders and use of serology testing may contribute to the underdiagnosis of celiac disease.⁷

MYTH: Celiac disease can be diagnosed with a blood test.

FACT: The diagnosis of celiac disease starts with blood screening, including antiendomysial antibody (EMA) or antitissue transglutaminase (tTG) and the determination of total serum IgA level. The EMA and tTG tests are two different methods to measure the presence of the same antibody. However, if the total serum IgA level is normal, these tests have a very high negative predictive value for patients ages 2 through 50. Therefore, a positive test result must be made through an intestinal biopsy, the only definitive means of diagnosing celiac disease. The gold standard for diagnosing the disease is an esophagogastroduodenoscopy (EGD) with multiple biopsies of the duodenum and jejunum. In the early 1990s, a select panel of experts from the European Society for Pediatric Gastroenterology and Nutrition formulated diagnostic guidelines for celiac disease that are currently accepted worldwide. These guidelines stipulate that obtaining an intestinal biopsy is mandatory for the final diagnosis of the disease.^1,6

MYTH: Undiagnosed celiac disease is not serious.

FACT: There are many complications that can occur when celiac disease goes undiagnosed. In both children and adults, celiac disease can result in malnutrition. The damage to the small intestine means it can’t absorb enough nutrients, which can lead to anemia and weight loss, and in children, it may cause stunted growth and delayed development. Malabsorption of calcium and vitamin D also can lead to softening of the bone (osteomalacia, or rickets) in children, a loss of bone density (osteoporosis) in adults, and can contribute to reproductive issues such as infertility and miscarriage. Small intestine damage also may cause people to experience abdominal pain and diarrhea after eating lactose-containing dairy products. And, people with celiac disease who don’t maintain a gluten-free diet have a greater risk of developing several forms of cancer, including intestinal lymphoma and small bowel cancer.

As many as 15 percent of people have nonresponsive celiac disease often due to contamination of the diet with gluten. And these individuals often have additional conditions such as bacteria in the small intestine, colitis, poor pancreas function or irritable bowel syndrome. In rare instances, the injury to the intestine continues even though a gluten-free diet is adhered to.⁸

Individuals with celiac disease also develop genetic and autoimmune conditions. Common genetic disorders consist of Down syndrome, Turner syndrome and Williams syndrome. Common autoimmune diseases include type 1 diabetes, hyperthyroidism, hypothyroidism, Sjogren’s syndrome and other connective-tissue diseases, and primary biliary cirrhosis.^1,2

A study conducted at the University of Trieste in Italy found that the prevalence of autoimmune disorders in those with celiac disease is related to the duration of exposure to gluten. Over a six-month period, 909 patients with celiac disease grouped according to age at diagnosis (group one: less than 2 years; group two: 2 years to 10 years; and group three: older than 10 years), 1,268 healthy controls and 163 patients with Crohn’s disease were evaluated for the presence of autoimmune disorders. The prevalence of autoimmune disorders among celiac disease patients was significantly higher than in healthy controls, but it was not higher than in Crohn’s disease patients. However, in celiac disease patients older than 10 years of age, the prevalence of autoimmune disorders was significantly higher than in those with Crohn’s disease. Therefore, it was determined that age at diagnosis (hence, exposure to gluten) was the only significant predictor variable of the odds of developing an autoimmune disorder.⁹

MYTH: There are many different types of treatment for celiac disease.

FACT: A strict, zero-tolerance gluten-free diet is the only treatment for celiac disease, and it is a lifelong treatment.¹ Even celiac disease patients who may seem to tolerate gluten are still causing damage to the intestinal lining when only a small amount of dietary gluten is consumed once in a while.⁶

MYTH: A gluten-free diet means that only wheat and wheat byproducts need to be avoided.

FACT: Celiacs must avoid all wheat products, including kamut, semolina, durum, spelt, faro and einkorn. But, they must also avoid rye, barley and oats.⁵

MYTH: It’s not easy to find information about how to prepare meals on a gluten-free diet.

FACT: A number of websites are dedicated to educating diners and providing menu information for gluten-free options. For instance, glutenfreemenus.net lists chain restaurants such as PF Chang’s and Bonefish Grill that offer gluten-free options on their menus. And, glutenfreerestaurants.com lists restaurants participating in the Gluten-Free Restaurant Awareness Program. There also is a magazine titled Gluten-Free Living that offers recipes, substitutions, advice from doctors and other helpful tools for living with celiac disease.⁵

MYTH: Those with celiac disease can’t consume beer.

FACT: While celiacs have always been able to drink wine and hard alcohol, until recently, most beers were off limits. Now, however, many companies have started producing gluten-free brews made from rice, buckwheat, corn and other safe-to-consume grains. The most common varieties today are Redbridge Beer produced by Anheuser-Busch and Bard’s Tale Beer, which is made from sorghum and widely found at Whole Foods. Celiac patients are urged to be cautious, though, of international gluten-free beers because standards vary by country, and many of these beers may still contain remnants of the protein.⁵

MYTH: Once diagnosed with celiac disease, an individual does not need further medical or dietary supervision.

FACT: Celiac disease is diagnosed after damage has occurred to the intestine. As a result, celiacs need continued medical and dietary supervision to prevent and treat anemia, osteoporosis and other nutritional deficiencies. Supervision also is important for early recognition and therapy of associated diseases such as diabetes and thyroid disease. And, to ensure a strict gluten-free diet, it’s recommended that patients follow up with a dietitian to keep up to date with gluten-free dietary changes and to consult with pharmacists to help identify which drugs may contain gluten.⁵

Dispelling the Myths Now

It is believed that only a fraction of the suspected number of individuals who have celiac disease have been diagnosed. However, once diagnosed, celiacs must adhere to a lifelong gluten-free diet that often can be confusing and, in some cases, costly. Nutritional labels have improved, but the law requires only eight of the most common allergens to be listed on food labels (this includes wheat, but not barley or rye). And, the term “gluten-free” is generally used to indicate a supposedly harmless level of gluten, rather than a complete absence. For standardization, the U.S. Food and Drug Administration is considering a legal definition for gluten-free. In the next year or two, it’s possible that gluten-free will mean an infinitesimal amount of gluten, perhaps along the lines of 20 parts per million. What’s more, there is a significant lobby to make gluten-free foods covered by health insurance.²

As awareness continues to grow about celiac disease, it is hoped that more people will be correctly diagnosed, the number of other complications stemming from this disease will decrease, and a gluten-free diet will be easier to follow.