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Celiac Disease: Misdiagnosed and Misunderstood

Celiac disease (also known as celiac sprue) is an autoimmune intestinal disorder that affects millions of Americans, but is often misdiagnosed and misunderstood. I interviewed Revolution Health’s gastroenterologist, Dr. Brian Fennerty, to help set the record straight. I highly recommend that you listen in to the entire conversation here, but I’ve captured the highlights in written form below.

Dr. Val: What is celiac disease?

Celiac disease is a genetically determined sensitivity to gluten, which is a protein component of wheat and other cereal grains. Some people think of it as an allergy to gluten, but it’s not a true allergy because it causes symptoms through a different biological pathway. Allergies respond to anti-histamines (and involve IgE antibodies released by eosinophils and mast cells) whereas gluten sensitivity involves IgA and IgG antibodies (released by different types of cells called lymphocytes) and do not respond to anti-histamine treatments. So the treatment for celiac disease is largely avoidance of gluten containing foods rather than directly treating the immune response.

Dr. Val: Is celiac disease under-recognized by physicians?

About 1-2% of adult Americans actually have a gene for celiac disease. However, many people with the gene don’t have symptoms. And there are others who don’t have the gene who do have celiac disease. This makes celiac disease both common, and commonly misdiagnosed.

Dr. Val: Why do some people with celiac disease have symptoms and others don’t?

That’s the million dollar question. It’s probably due to the relative vigorousness of their immunological response to gluten, and how much of their bowel is involved. Symptoms of celiac disease can range from a severe gluten intolerance in a child who stops eating (due to pain and bloating) and ceases to grow due to malnourishment, to an elderly person who has no intestinal symptoms whatsoever but is found to be iron-deficient on a screening exam – which leads eventually to the diagnosis of celiac disease.

Dr. Val: How do you diagnose celiac disease?

Doctors often misunderstand how best to diagnose this disease, and because of that patients are often misled. Nowadays we screen for celiac disease with a blood test called “tissue trans-glutaminase” (TTG) to determine whether or not this enzyme is present in an abnormal form (which is the case in patients with celiac disease). However the test has an 80% sensitivity, which means that 80% of the people who have celiac disease test positive with the TTG test, but 20% of the people who test positive do NOT have celiac disease. When only 1 or 2% of the population has the disease, a positive test is given so frequently that most people who test positive don’t actually have the disease. A negative test, on the other hand, is more helpful to exclude the diagnosis of celiac disease. So anyone with a positive celiac blood test should assume that they don’t have celiac disease until it has been confirmed with a duodenal biopsy.

Dr. Val: How invasive is a biopsy for celiac disease? Are there risks involved?

The biopsy involves an upper endoscopy (NOT a colonoscopy) so there is no bowel prep requirement so it’s much more comfortable. The biopsy itself is very shallow, so there’s no risk for bleeding. The only risks are those associated with a regular endoscopy. It is a sedated exam, so you may lose time from work, but it’s not painful or as involved as a colonoscopy.

Dr. Val: Could you still miss celiac disease on a biopsy?

It’s possible though quite unlikely. The test is very accurate, but there are some mild cases of celiac disease where the part of the bowel that we biopsy is not involved in the disease process and may not be visible under the microscope. If the disease is still strongly suspected in someone with a negative biopsy, a second biopsy can be done with a longer scope (called an enteroscope) to get a sample of tissue from farther down in the small intestine. A second option would be for the patient to swallow a camera capsule so that we can take photos of the bowel wall to see if there are changes in the lining of the intestine suggestive of celiac disease. A third option is to try a gluten-free diet and see if the patient’s symptoms improve.

Dr. Val: Is there any new research or potential therapies for celiac disease?

Because this is an immunologic disorder (where the intestine’s immune system is reacting abnormally to a normal dietary constituent and causing inflammation) we can try to control the inflammatory response. In the past we tried very potent immunomodulators like chemotherapy, or anti-inflammatories used in other auto-immune diseases like rheumatoid arthritis or Crohn’s disease. However, these are very strong medications with many unwanted side-effects.  There are targeted therapies being developed that will help to block the gluten response without exposing the patient to the potent general anti-inflammatory properties of chemotherapy-type agents, but we don’t know yet if this approach will be successful.

Dr. Val: What’s your advice for patients with celiac disease?

I have three pieces of advice that I generally give my patients with celiac disease:

1. Become as informed as possible about your disease. Websites such as the Celiac Sprue Association and NFCA are excellent sources of trustworthy information. At the same time, the Internet is an extremely dangerous place for celiac patients because there are a lot of websites that are not science-based, but driven by marketers who are trying to sell products to patients. So the patient has to learn to filter the information they’re getting off the Internet.

2. Consult with a dietician or nutritionist who understands celiac disease. Not all dieticians are skilled at counseling people with gluten sensitivity, so be sure to find one who has expertise in this area. A good dietician or nutritionist is the most important part of the healthcare team for a patient with celiac disease.

3. Make sure your diagnosis is accurate. There are many tens of thousands of people walking around with a diagnosis of celiac disease who do not have it. If you’ve been diagnosed on the basis of a blood test alone, and your symptoms don’t correlate perfectly with gluten sensitivity, you need to question that diagnosis.

Dr. Val: Do people with celiac disease have higher risks for other gastrointestinal disorders?

Yes. Celiac disease is associated with diabetes, so people with celiac disease should be screened for diabetes. Some people believe that patients with celiac disease are at higher risk for irritable bowel syndrome, though it’s unclear if that’s because of overlapping symptoms and not an actual increase in IBS. Patients with celiac disease are at higher risk for iron and calcium deficiencies (due to absorption problems in the intestinal lining) which can lead to anemia and osteoporosis. There is also a higher risk of small bowel lymphoma, which is a very rare form of cancer. A celiac patient’s risk (like anyone’s risk) of breast cancer or prostate cancer, of course, are far higher than the very small (but increased) risk of intestinal lymphoma.

So there you have it folks, all you ever needed to know about celiac disease. I’m going to be participating Washington DC’s Gluten Free Cooking Spree this Friday, April 11th. I’m teamed up with the chef from Cafe Atlantico to create a gluten free meal that’s going to be out-of-this world delicious. If you’re local, I hope I see you there!This post originally appeared on Dr. Val’s blog at RevolutionHealth.com.

Can You Control Your Destiny? Parents of Triplets Unsuccessful

This is a cute story that caught my eye – a couple used in-vitro fertilization (IVF) to become pregnant, and they specifically asked their doctor to implant only one embryo to make sure that they did not have multiple births. In the end, that one embryo split twice, causing identical triplets to grow inside the uterus. All three baby boys were born healthy at 35 weeks gestation.

I asked Revolution Health fertility expert, Dr. Rani Abbasi, to help me to understand if there was any greater risk of twinning in the IVF process. Interestingly, there are some new techniques used to help insure implantation of embryos that can also increase the chances of identical twins forming. I don’t know if this couple’s doctor used either technique, but I thought I’d explain them to you because the MSNBC report might lead you to believe that this event was extremely rare (they quote 200 million to one) when in fact it may not be quite THAT rare.

There are two methods that fertility specialists can use to increase the chances of implantation for a single embryo. First, incubating the embryo in an extended culture (for 5 days rather than the usual 3) makes it more likely that the transfer will implant in the uterus. However, since the embryo is two days older at the time of transfer, it has a higher likelihood of splitting into two, causing identical twins.

Second, some fertility experts use a technique called “assisted hatching” which also improves the likelihood of implantation of an embryo. This involves making a small nick in the embryo’s outer zone (I think of it as an egg shell) to facilitate the cells breaking out of the protective outer coating and implanting in the uterine wall. When the nick is made, it is also possible for a single cell to fall out (rather than the group of cells, called a blastocyst, exiting together) and become its own fetus.

So ultimately, it’s possible that the techniques used by this couple’s doctor to insure a successful implantation of one embryo increased the chance of splitting of that same embryo, resulting in triplets. Granted, the chance of this happening is still rare – and it’s ironic since the couple was doing all they could to avoid twins or triplets – but it’s not nearly as rare as the chance of a random woman having identical triplets outside of IVF.

For more information about twins and triplets, check out my recent podcast interview with pregnancy expert Dr. Mary D’Alton. And for those of you who believe that you can control your destiny, this story should give you pause!This post originally appeared on Dr. Val’s blog at RevolutionHealth.com.

Asthma in Women: Gender Differences Are Important

I recently interviewed Dr. Cliff Bassett about asthma in women and he gave some interesting insights into gender differences associated with this disease. I’ve summarized our conversation below – or you can listen to it here.

The CDC reports that 9% of women have asthma compared to 5% of men. I think that’s a very important finding and I’m not sure if women know that they’re at higher risk than men. The good news is that asthma is completely treatable, although sadly we have as many as 4000 deaths per year in this country attributed to asthma. We’re doing a better job identifying those with severe asthma, and the death rates are decreasing.

Women need to understand that even a small amount of weight gain (as little as 5 pounds) can add up to a much higher risk of death for women with severe asthma. So weight management is very important for those with more challenging asthma symptoms.

Women are more likely to be hospitalized due to an asthma attack than men. And interestingly, up to 40% of women report that their asthma symptoms get worse just before and after menstruation. So for women it’s important to keep a symptom diary, so that if there’s a regular worsening of asthma during menstruation, they might need to be treated more aggressively (perhaps with steroids or other medications) during that time of the month.

The new asthma guidelines (from the NIH) emphasize understanding asthma triggers as the foundation of prevention. It’s much safer to avert an asthma attack than to have to treat a full blown one. So it’s really important for women with asthma to figure out what might trigger their symptoms, and avoid those triggers as much as possible.

Now that it’s winter time, most environmental triggers are of the indoor variety. Over 100 million US households have pets. The most common pet is the cat, and up to 10% of people with allergies develop specific allergies to cats. If an individual suspects that she has a pet allergy, she should see an allergist to get tested to confirm that. Avoidance measures are important, though there are medications and allergy immune therapy (allergy shots) that can help with pet allergies.

Cold dry air can be an asthma trigger in some individuals, especially if they’re engaging in outdoor physical activity. Warm ups and cool downs can help to head off an asthma attack in the cold, though it’s always a good idea to have a rescue inhaler handy.

**Listen To Podcast***This post originally appeared on Dr. Val’s blog at RevolutionHealth.com.

Diabetes Treatment: Is Compliance more Important than Research?

I was speaking with Revolution Health expert Dr. Zach Bloomgarden about advances in diabetes care, and I suddenly realized that enhancing compliance with lifestyle measures is more important than researching treatments.  In other words, we have the power to cure many cases of type 2 diabetes already – without any new research/treatments. The challenge is sticking with diet and exercise programs. Perhaps the same could be said of many diseases.

I thought I’d share this audio clip of Zach explaining that we already have the tools to radically improve diabetes outcomes and virtually eliminate this disease.

Listen Here

I hope that the new community groups at Revolution Health will help us all work together to get to a healthier place. I’m still struggling along with my diet team. I’m proud of those who have had great success already!This post originally appeared on Dr. Val’s blog at RevolutionHealth.com.

Women and Allergies: An Update with Cliff Bassett, MD

Dr. Cliff Bassett is an allergy specialist in New York City. We recently discussed the differences between men and women when it comes to allergies. You can listen to our conversation or read on for a synopsis of the discussion.

**Listen To The Podcast**

Seasonal Allergies & Women

Women don’t always realize that nasal stuffiness may be a sign of an underlying medical condition or a side effect of medications. Low thyroid (hypothyroidism), taking oral contraceptive pills, or frequent use of aspirin or NSAIDs (such as Motrin), can actually increase the risk for nasal stuffiness. Some studies also suggest that hormone fluctuations can increase nasal congestion and allergy sensitivity. So women in particular need to be aware of their unique allergy triggers and get treatment from an allergy specialist when necessary.

Food Allergies & Women

A recent study suggested that women are twice as likely to have seafood allergies than men (4% versus 2%). The reason for this difference is unclear, and it may be related to increased vigilance on the part of women to get tested and diagnosed. However, food allergies are certainly on the rise in this country. I suspect it might have to do with the increasing use of stomach acid blockers. The medicines change the pH (or acidity) of the stomach environment and may influence the way that proteins are being broken down and absorbed by the body. Another theory is that dieting can lead to increasing food allergies – as women eat more protein and fewer carbohydrates, they become exposed to more protein allergens and develop intolerances to them. Ultimately we don’t know for sure what’s contributing to the increase of food allergies in this country, but the good news is that you can easily get tested and treated for them.

Drug Allergies & Women

Some studies suggest that penicillin allergies are more common in women than men. Anyone who has an allergic parent is at higher risk for having an allergic condition. If both parents are affected, your chances are 50-75% that you’ll have a similar allergic profile.

Moms: Be a Label DetectiveA law was passed in 2006 that requires all food products to be carefully labeled regarding whether or not they contain any of the 8 most common food allergens. Moms need to become familiar with all the possible names of ingredients that are related to their (or their child’s) food allergen. So for example “casein” is a form of milk protein, and should be avoided if the allergic individual has milk sensitivities. Also, be very wary of hidden sources of allergens – the glaze on pastries may contain egg proteins and traces of nuts may be hidden in cakes and breads. When dining out it’s always good to carry an allergy card for the chef so he/she can make sure that the food you order doesn’t contain any offending ingredients. The website foodallergy.org has a great list of tips for avoiding exposure to food allergens. I highly recommend it as a resource for women taking care of food allergic children.This post originally appeared on Dr. Val’s blog at RevolutionHealth.com.

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