While gluten “causes�?celiac disease, the condition cannot develop unless a person inherits a genetic predisposition to it. That means she must have at least one of two human leukocyte antigen (HLA) genes, DQ2 and DQ8. Ninety-five percent of celiac suffers have HLA–DQ2 and most of remaining five percent have HLA–DQ8. Roughly 30 percent of the general population has one or both of these genes, but—as with so many puzzling aspects of celiac—only one percent of them actually get the disease. Still, recent studies suggest that celiac affects one out of every 133 people in the US. Only three percent of these cases have been diagnosed, however, which means more than 2.1 million Americans have the disease and don’t know it.

When a person with celiac disease eats wheat or one of the other “bad�?grains, a persistent inflammation breaks out in the small intestine, and in what could be described as collateral damage, that biological warfare gradually destroys the nutrient-absorbing, hair-like cells (villi) that line it. Over time, the disease creates a condition called villous atrophy. Patients suffer varying degrees of damage (measured as levels I through IV on the Marsh scale) and, hence, severity of symptoms. At Marsh IV, the lining of the small intestine is completely flat.
 

When Can I Get It?

Doctors once described celiac as a childhood disease that one would eventually outgrow. And, in fact, symptoms often disappear or at least greatly diminish on a gluten-free diet. But unfortunately, all the genetic conditions for the disease remain and eating gluten will reactivate it—even decades later, which has happened to many people who were diagnosed in childhood.

We now know that celiac disease can strike at any time—and at any age—and that its onset can either be gradual or rapid and dramatic. Most adults are diagnosed in their 40s or 50s, although as awareness of the disease grows, many discover they’ve had the disease since childhood but that it has lain dormant after their initial treatment. Others find they’ve had a latent form of the disease that erupted in the presence of a trigger event like pregnancy, childbirth, an accident, surgery, or a serious (or series of) viral or bacterial infections.
 

Getting Tested
Thirty-five years ago, finding out whether or not you had celiac disease was a bit of an ordeal. You had to swallow a cumbersome x–ray-guided suction–biopsy device called a Crosby not once but three times over a period of months—first to establish the presence of villous atrophy, second to gauge improvement on a gluten-free diet, and finally to confirm damage to the villi after re-exposure to gluten. Nowadays the first step requires only drawing enough blood to run what’s called the celiac blood panel, which generally consists of three to five tests: EMA (immunoglobulin anti-endomysium antibodies); tTG (anti-tissue transglutaminase); AGA (IgA anti-gliadin antibodies); AGG (IgG anti-gliadin antibodies); and total serum IgA antibodies, just to make sure you don’t have selective IgA deficiency (roughly three percent of celiac suffers do). Both the EMA and tTG tests are highly sensitive, which means that most everyone who has celiac disease tests positive. The EMA test is also highly selective (tTG is slightly less so), which means that nothing but celiac disease can cause a positive result.

Of course this wouldn’t be celiac disease if there weren’t exceptions. Five to 10 percent of patients lack the EMA and tTG antibodies and therefore test negative. And false positive tests also occur. So despite the growing sophistication and accuracy of blood tests, the gold standard diagnostic tool remains the biopsy of the small intestine. Fortunately, biopsy techniques have improved tremendously over the years—today’s biopsy requires the swallowing of a small endoscope in a procedure that lasts 10 to 20 minutes under local anesthesia. In addition to taking tissue samples, the endoscope allows a physician to inspect the larynx, esophagus, stomach, and the duodenum and sample them if anything looks suspicious.

So what should you do if you’ve got symptoms of celiac disease or if a family member has just been diagnosed? First of all, don’t eliminate gluten from your diet. You may feel better and your symptoms may improve, but that’s not proof you have celiac. More importantly, once you remove gluten from your diet, the blood test won’t show anything because the antibodies that drive the celiac blood panel will disappear. Ask your doctor to run the blood tests listed above and if you test positive, especially in EMA, schedule a biopsy.
 

You’ve Got Celiac
They may not be the words you want to hear, but a positive diagnosis at least clears the air. You may have an autoimmune disease, and that is indeed serious news, but at least it has a known cause and a known cure. Here’s what you need to do to start the healing process.
 

1. Go gluten-free.

The dietary cure for celiac disease dates from at least 1888, but physicians only began focusing on the exclusion of wheat and related grains in the 1940s. The bad grains? All forms of wheat including durum, semolina, couscous, bulgur, spelt, kamut, einkorn, and faro, as well as rye, barley, and triticale. You should probably avoid oats also because of cross-contamination in the milling process, even though Green and Jones say the grain is safe for 98 percent of people with celiac.

At first that might seem like a simple albeit irritating injunction, but you not only have to avoid ingesting the grains themselves (either whole or milled into flour) but also everything made from them, which includes some not very obvious products like beer (barley malt), lipstick (wheat germ), some prescription drugs (gluten-based binders, covers, or fillers), and soy (fermented wheat). The list is incredibly long and frustratingly subtle, so the best way to start mapping out your diet is to check out books like Green and Jones�?and the websites in the National Support Group sidebar on page TK.

Among the steps you’ll want to take right away: Check your pantry and segregate gluten containing foods (or give them away); create a list of safe food categories such as fruit, vegetables, and plain meat and fish; compile a list of safe foods and food products (Unsure? Call the manufacturer or check online support groups.); learn how to read labels, how to identify hidden sources of gluten, and what processes or, in restaurants, cooking steps can lead to cross-contamination.

And finally, be prepared for well-meaning friends and relatives who say, “Oh, a little bit won’t hurt you.�?Cheating is truly self-defeating. As little as a bite of gluten-bearing food can jumpstart the whole celiac cascade, and because the ensuing inflammation lasts as long as the immune cells live, eating gluten even occasionally (either consciously or by accident) can cause ongoing intestinal damage.
 

2. Encourage testing for immediate family.

Your children face increased risk of having celiac disease even if they’re currently symptom free. Immediate family members (children, parents, and siblings) have a 10 percent chance of getting celiac disease. If two siblings receive a positive diagnosis, the risk doubles for other first- and second-degree relatives. And if one twin has celiac disease, there’s a seven in 10 chance the other will too. Even first cousins are at risk. Have each immediate family member get a celiac panel blood test. You might also consider testing for HLA-DQ2 and –DQ8 in any family member who has a negative blood test.
 

3. Assess your nutrient levels.

Celiac patients often suffer from malnutrition. Ask your doctor to check your blood levels of important nutrients like iron, folic acid, and B12.
 

4. Get a bone density test.

Green and Jones call celiac “a disease of absorption,�?and that often manifests itself as osteopenia or osteoporosis. Some 75 percent of newly diagnosed celiac patients have some degree of bone loss and up to 35 percent of newly diagnosed adults have established osteoporosis. So get a bone density test, not only to determine if you suffer from these conditions but also to establish a benchmark. This is especially important for men because they tend to have more severe bone loss than women. If you have either condition, consider testing your parathyroid hormone, calcium, and vitamin D levels to determine if your body has trouble absorbing calcium. Warning: No matter how serious your bone loss, avoid taking antiresorption drugs before your gut heals. They work by blocking the release of calcium from bone, and if your intestines cannot absorb enough dietary calcium to supply your body’s minute-to-minute needs and it can’t rely on stored calcium in your bones, you can experience cardiac arrythmias, muscle weakness, convulsions—and death.
 

5. Join a support group.

Fellow celiac patients can help you explore diet possibilities, teach you how to cope with eating out, and help you find gluten-free foods, restaurants, and cosmetics. You can trade war stories and get help when things get rough. Why go it alone when others have already navigated the journey successfully?
 

6. Get follow-up tests.

Blood tests (EMA and tTG) will only tell you how successful you’ve been in maintaining a gluten-free diet; they won’t tell you anything about how well your small intestine has recovered. The only way to measure that is through another endoscopy. TK says that only 40 percent of celiac patients show complete recovery after a year gluten-free, so he likes to wait two years before follow-up.
 

7. Accentuate the positive.

Sure you face a restricted diet for the rest of your life and sticking to it can be a challenge, but forget about “can’t�?and focus instead on all the food you can eat. Indulge yourself in moderation—there are lots of scrumptious gluten-free treats. And be thankful you can get better by eating right. No operation, no chemo or radiation, and no lifelong need for medication. Not many seriously ill people are that lucky.

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