PHOENIX—Celiac disease and gluten intolerance, once thought to be rare and self-limiting digestive disorders, are finally being recognized for what they are: common and debilitating diseases that represent a major public health challenge, said Christine MacDonald Doherty, ND, at the annual meeting of the American Association of Naturopathic Physicians.
Most primary care physicians have a significant number of patients with celiac disease—they just don’t know it. That’s because very few patients present with the “classic” textbook form of the condition, characterized by diarrhea, weight loss, malabsorption, anorexia, failure to thrive, abdominal distention and irritability. Rather, they present with less well-defined symptoms.
“I’m constantly surprised by who is celiac in my practice,” said Dr. Doherty, herself a celiac disease patient. “We’re seeing a lot more of this than we realize.”
In June 2004, the National Institutes of Health held a consensus conference on celiac disease. By best estimates, 1 in 132 Americans has some form of the disorder. This translates into roughly 2.8 million people in the US, or 1% of the total population. The majority of cases, 60% or so, are atypical, and 90% go undiagnosed or misdiagnosed for 10 or more years.
Far from being a minor annoyance, celiac disease can have profound health effects. Patients often have other autoimmune diseases like lupus, Sjogren’s syndrome, rheumatoid arthritis, Graves’ or Hashimoto’s thyroid disease. Some have neurological conditions like white matter cerebral calcification, cerebellar ataxia, and peripheral neuropathy.
They are also at increased risk for small bowel lymphoma, adenocarcinoma, esophageal carcinoma, ulcerative jejunitis, and enteropathy-associated T-cell lymphoma. “By detecting silent cases of celiac disease, you may very well be saving peoples’ lives.”
A Chameleon Diagnosis
“This is, admittedly, a tricky diagnosis,” said Dr. Doherty. “It is a chameleon disease that can affect almost any system of the body, and can strike at any age. It is a pattern-recognition diagnosis.”
At its core, celiac disease is a genetic disorder. On a global level, it is the most common genetic disorder, affecting 1 in every 200 people on the planet.
Ninety percent of all celiac patients have distinct mutations of the HLA DQ2 gene, and the remainder have mutations of HLA DQ8; a small number have both. The mechanisms connecting the genotype to the phenotype are not clear, but these genes do code for proteins that regulate Th1 immune response. There is a 70% concordance for these genotypes in monozygotic twins, but only 40% in HLA-matched siblings, suggesting that other non-HLA genes are also involved.
Between 35% and 40% of the general population carry the HLA mutations, but only 1% develop the disease. This is because repeated exposure to triggers is necessary. Common triggers include viral infections such as herpes simplex, borellia (Lyme disease), rubella and various adenoviruses. Pregnancy, surgery or other trauma can sometimes be a trigger. But by far, the most common and troublesome trigger is gluten, often complicated by gut flora imbalances.
Symptoms and conditions connected with celiac disease are myriad: chronic diarrhea, weight loss, obesity, diabetes, ataxia, clumsiness, frequent infections, chronic sinusitis, bleeding gums, menorrhagia, polycystic ovaries, infertility, pale foul-smelling stools, anemia, gas, bone pain, behavior changes, reflux, gastritis, duodenal ulcers, eczema, Barrett’s esophagus, multiple food allergies, muscle cramps, fatigue and a host of others.
“You can look at this as the mother of all auto-immune diseases,” said Dr. Doherty. “It can affect the GI, central nervous and immune systems. Some patients show more GI symptoms, others are more neurological or immunological.” In general, any autoimmune symptoms of intense inflammation and localized tissue damage should raise suspicion of celiac disease.
Consider it whenever you see anemia, iron deficiency, B vitamin deficiency, elevated liver enzymes, decreased albumin, thrombocytosis, leukocytosis, or coagulopathies.
Four General Types of Celiac Disease
Dr. Doherty described four general presentation patterns of celiac disease:
The Classic Presentation: Characterized by diarrhea, weight loss, malabsorption, symptom flares associated with consumption of wheat and other gluten-containing grains, and improvement when gluten-free. Biopsy will show intestinal villous flattening, indicating destruction of the villi. These patients usually have positive serologies for IgA and IgG, but not IgE. If tested, most will be positive for the genes associated with celiac disease. The classic form is a relatively small segment of the overall celiac population, the tip of the proverbial iceberg.
The Silent Type: This category represents a large number of people. They are essentially asymptomatic, at least for many years, though they do have anemia and elevated liver enzymes. They are usually discovered when another member of the family is frankly symptomatic, and a physician wisely suggests testing first-degree relatives. These patients turn out to have positive serology, positive biopsy, and often, positive genetics. Why they remain asymptomatic is not clear.
The Atypical Type: This category represents the majority of celiac sufferers. They show a mixed bag of symptoms, consisting of just about anything on the list. They may or may not have positive serologies.
The Latent Type: In these cases, the patient shows positive serology, and carries the gene(s). However, they do not show villous changes or overt symptoms. Like the silent types, they are usually detected during family screenings. Just because these patients aren’t currently symptomatic doesn’t mean they will remain symptom-free; symptoms can emerge at any time.
Dr. Doherty urged physicians to keep celiac disease high in their differential diagnosis list when seeing new patients. Unfortunately, in the US, celiac patients spend an average of 11 years bouncing from doctor to doctor, often being told there’s nothing “objectively” wrong, before they are properly diagnosed. In Britain, by contrast, the average time to diagnosis is eight weeks.
Genetic Testing: Who Should Be Screened?
Genetic tests for celiac disease are well established, reliable, and not outrageously expensive. Several European countries have national screening; in Italy it is mandatory. The NIH consensus group considered wide US public screening during the 2004 conference, but ultimately opted against it. There are not yet any consensus guidelines for genetic testing.
This leaves physicians to rely on their own judgment. Dr. Doherty recommended genetic testing for anyone with a known or suspected sensitivity to gluten-containing grains; first-degree and symptomatic second-degree relatives of people with clear symptoms of celiac; patients with related autoimmune diseases; infertile women or those with repeated miscarriages; patients with irritable bowel syndrome (11% of whom are clearly celiac); Type 1 diabetics (roughly 20% of whom are celiac); patients with chronic fatigue or anemia; patients with IgG and IgA serology suggestive of celiac disease.
When testing family members of frank celiac patients, she recommended doing both genetics and serology. “If the genetic tests are negative, you never have to repeat the serology. If the genetics are positive, you may need to periodically retest the serology, especially if symptoms start to develop or they are exposed to known triggers like Lyme disease or other infections.”
A number of diagnostic labs provide genetic and/or serologic testing for celiac disease. Dr. Doherty recommended Prometheus Labs (www.prometheuslabs.com), which gives both genetic and serologic data on a single report. The cost for this panel is approximately $700.
Great Smokies Diagnostic Labs (www.gsdl.com) offers comprehensive serologic testing, though not genetic screening. There are three essential components to the serologic studies: anti-endomysial IgA, tissue transglutaminase IgA, and anti-gliaden IgG. Dr. Doherty said many gastroenterologists are dropping the anti-gliaden component, but she feels this test is extremely valuable for picking up the cases in which the disorder presents primarily as neurologic problems.
Villous biopsy is obviously not a pleasant procedure for patients, and should be done judiciously. In general, if the genetics, serology and symptom patterns say “Celiac disease,” it is very reasonable to go ahead with a gluten-free program.
Going Gluten-Free
For patients with celiac disease, there’s really no way around the need to eliminate gluten. Currently, there are no medical therapies—pharmaceutical, botanical, nutritional or otherwise—that control this condition.
“Patients need to understand this is a lifelong autoimmune disease and gluten is the common trigger. There’s no alternative to going gluten-free. One eighth of a (wheat flour) cracker daily will maintain full-blown villous atrophy. They need to understand the seriousness of this. Celiac patients who are not gluten-free have doubled lifetime all-cause mortality. It will eventually kill you.”
It has gotten easier in recent years to live a gluten-free life—thanks in large part to innovative food companies responding to the needs of this population (see resource list at the end of the story). But it is still a big challenge for most people.
While wheat is the obvious culprit, other common grains are high in gluten, including spelt, triticale, barley, rye, and any type of malted grain. While oats are technically gluten-free, farmers often grow oats in rotation with wheat, and food processors and packagers use the same equipment to make oat and wheat based products. “Finding uncontaminated oats is basically impossible.”
According to Dr. Doherty, we live in a sea of glutens. “Roughly 90% of all foods in the US contain some level of gluten.” Cosmetics, shampoos, toothpaste, various kinds of glue, Play-Doh, medications and dietary supplements also contain gluten. Though the Food & Drug Administration has begun setting standards for gluten labeling, this has not yet been implemented. Even diligent label-readers can have a hard time determining if a mainstream product is safe for them.
In addition to making the dietary changes, patients who go gluten-free should thoroughly clean or even replace toasters, cutting boards, and wooden utensils that they used in the past for gluten-containing foods. Traces of gluten residue can be enough to trigger symptoms in sensitive individuals.
The Challenges and Benefits of Gluten-Free Living
When helping patients on a gluten-free diet, it is essential to make them aware that they will likely feel worse for two or three weeks before they feel better. Symptoms may flare, and anxiety or depression may get worse. This, said Dr. Doherty, is a typical detoxification reaction. If a patient has been subjecting his or her system to loads of gluten for years, a sudden change will require profound physiological, metabolic and immunologic adjustments.
This can be very discouraging, and occasionally dangerous, so monitor these patients very closely and provide as much encouragement as possible.
Finding time to cook wholesome meals is a challenge even for healthy families. Gluten-free cooking may seem overwhelming for many patients. Hiring a personal/family chef is an excellent solution. “It is not as expensive as you might think,” said Dr. Doherty, who hired a chef for her own family. “It costs us around $100 per week. We have great nutritious gluten-free meals, and it cuts down on our eating out, so we end up saving a lot of money.”
Gluten-free diets do present nutritional challenges. For one, many gluten-free replacement foods are highly refined, with low nutrient density. “There’s a lot of gluten-free junk foods out there, and they don’t really help.” Monitor a patient’s nutritional status carefully, since many of these patients are deficient in fat-soluble vitamins, essential fatty acids, iron, calcium, magnesium, and especially B-vitamins.
A gluten-free diet also predisposes people to deficiencies of pyridoxine and selenium, and it makes sense to monitor nutritional status. Spectracell Laboratories (www.spectracell.com) specialises in intracellular nutritional testing, providing information about the degree to which cells are receiving the nutrients they need.
Dr. Doherty advises her celiac patients to take a comprehensive gluten-free multivitamin, preferably in chewable or liquid form, as well as iron and B-vitamins. Those who have severe depression or anxiety should also take SAM-e or L-theanine. Many will benefit from omega-3 fatty acids. Probiotics and digestive enzyme supplements will also help, especially for those patients with extremely disordered digestive/absorptive function.
On the positive side, once they get through the initial phase, most patients feel remarkably better on a gluten-free diet. Longstanding digestive symptoms resolve spontaneously, they feel greater energy and usually experience a sense of well being they’ve not had before. In addition, many associated autoimmune conditions also resolve.
“I’ve seen six cases of lupus resolve completely once the patients went gluten-free,” Dr. Doherty said. She added that several of her female celiac patients who had been infertile got pregnant after establishing a gluten-free lifestyle.
Psychosocial Implications
Psychologically and socially, gluten-free living can be difficult. Many patients feel ostracized and unable to participate in family or social events. Holidays are particularly problematic, as is travel. Finding gluten-free food on the road can be difficult, but a growing number of restaurant chains are able to accommodate these special needs. Dr. Doherty cited Outback Steakhouse, Carraba’s, PF Chang’s, Legal Seafood, and Texas Roadhouse as among the chains that now have gluten-free menus. “You have to know to ask for the gluten-free options, though.”
Given all the challenges, support groups are essential for maintaining the diet and the lifestyle. Dr. Doherty recommended the following groups and resources:
The National Foundation for Celiac Awareness (www.celiacawareness.org, Tel. 215-325-1306): Raising the awareness of and research funding for celiac disease.
Gluten Intolerance Group of North America (www.gluten.net, Tel. 206-246-6652): This organization produces excellent pamphlets, diet guidelines and other helpful tools. They are open to holistic medical approaches, and can help patients network with others in their area who share the celiac challenge.
Celiac Disease Foundation (www.celiac.org, Tel. 818-990-2354): A small California-based group providing information and resources to celiac patients.
Celiac Sprue Association (www.csaceliacs.org, Tel. 877-CSA-4CSA): The oldest national organization dedicated to celiac disease, this group tends to be conservative on alternative medicine, but it provides a lot of excellent resources for celiac patients.
St. John’s University Celiac Listserv (www.enabling.org/ia/celiac): An excellent online resource allowing celiac patients worldwide to share their experiences, successes and struggles.
Living Without—The Gluten Free Living Magazine (www.livingwithout.com, Tel. 847-480-8810): A national publication serving people with gluten intolerance and other common food allergies/sensitivities with excellent information, advice and resources for making the gluten-free/allergen-free lifestyle work in today’s busy world.
GlutenFree Passport (www.glutenfreepassport.com, Tel. 312-952-4900): An organization dedicated to empowering people with gluten sensitivity and food intolerances, this group provides dining guides, recipe books, and various “Cuisine Passports” centered on different ethnic culinary traditions.
There has been a veritable explosion of gluten-free foods hitting supermarkets and health food stores in recent years, with annual sales topping $600 million in the last year. Even Wal-Mart has gotten the gluten-free tip, requiring all foods under its “Great Value” line to be labeled as to their gluten status. Many of the Whole Foods markets now have a Gluten-Free Bakehouse in the stores. Here are a few of the many excellent Gluten Free lines now available:
Ener-G: In business since 1962, Ener-G is one of the oldest and largest lines of gluten-free, allergy-free and other specialty foods. www.ener-g.com, Tel. 800-331-5222.
Natural Feast: A line of tasty and healthful gluten-free pies. www.naturalfeast.com, Tel. 866-628-6346.
Glutino: Based in Canada, Glutino provides a broad range of healthy, usually organic foods for people with celiac disease and other food intolerances. www.glutino.com, Tel. 800-363-DIET (3438).
Pamela’s Products: An outgrowth of one of the nation’s first health food stores, this family-owned company offers a comprehensive line of cookies, cakes and other baked goods, as well as gluten/wheat free mixes for at-home baking. www.pamelasproducts.com, Tel. 707-462-6605.
Foods by George: Founded by a New Jersey couple dealing with the celiac challenge, Foods by George offers a broad range of gluten, dairy, and corn free foods. www.foodsbygeorge.com, Tel. 201-612-9700.
