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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.

When What Can Go Wrong, Does Go Wrong

My father-in-law just had his gallbladder removed. There was a small complication with the surgery (due to pus leakage from the gallbladder) and a laparoscopic procedure needed to become an open surgery. He did fine and is recovering nicely. I’m very glad that his surgeons did what they needed to do to get that infected organ out of his body safely.

However, his very minor “complication” reminded me of a gallbladder horror story that I once heard about from a surgeon friend of mine. I have changed many details of this story to protect the privacy of the patient (whom I’ve never met), but I think it’s important to talk about the event, especially in light of the recent surgical errors being discussed in the blogosphere.

A young man had suffered from gallstone “attacks” and was scheduled for a very routine laparoscopic cholecystectomy. It was the end of the day, and the surgeon scheduled to do the procedure had been working a 24 hour shift, and was quite tired and irritable. He wanted to do the procedure as quickly as possible and get home to dinner and an early night’s rest. The nursing staff remained quiet as he fumed and sputtered, preparing the patient with a betadine scrub and letting them know that he wanted to set a new record for speed of gallbladder removal.

The small incisions were made and some trocars were inserted so that the belly could be inflated and a camera and instruments inserted through the holes. The surgeon went to work quickly dissecting and preparing to remove the offending organ. In his haste, however, one of the instruments fell out of the skin incision. Enraged, he asked for a new one and began inserting a trocar blindly into the skin incision without guiding it with the camera. He had some difficulty getting it in, and began applying more and more pressure to puncture its way through to the middle of the abdomen. Exhausted, he jabbed it back inside with a final twist, inserted the instrument and then picked up the camera to continue the procedure.

Confusion gave way to terror as the internal camera showed the belly filling up rapidly with arterial blood. The surgeon had punctured the abdominal aorta during the trocar reinsertion. This was a surgical emergency. Ashamed of his mistake he decided to try to handle this himself, opening the belly wide to cross clamp the aorta and repair it without the patient needing to know about his near brush with death. Unfortunately, the repair took far longer than the surgeon expected, and blood flow to the legs was compromised for several hours (causing internal clots). Many units of blood were ordered for transfusion, nearly draining the blood bank of its reserves.

Tragically, although the young man did survive the surgery, he required an eventual double amputation of his legs. And all this after what he thought would be a simple gallbladder removal.

This is a sobering example of how serious any surgery can be, and why it’s so important for every procedure to be handled with the utmost patience and care. Many people have told me that surgeons don’t need to have a “good personality” because they mostly deal with anesthetized patients, but I think that this is a shallow view. A surgeon’s character is uniquely tied to his or her performance, and if they have a propensity towards a short fuse, it could result in tragic errors like this one. If you are considering surgery, you should feel comfortable with your surgeon’s style and personality. Don’t be afraid to get a second opinion or seek out a different surgeon if something doesn’t seem right. Your life may depend on it.This post originally appeared on Dr. Val’s blog at RevolutionHealth.com.

When is Weight Loss Surgery an Appropriate Option?

I’ve wrestled with this question for many years: “When is weight loss surgery an appropriate option?” I used to do weight loss research prior to working at Revolution Health. My studies focused on using “natural” methods to reverse type 2 diabetes – in other words, weight loss via diet and exercise. My study subjects were all obese, and most had struggled with weight for decades.

At some point during the trial, people would often ask: “Can’t I just have surgery for this and not have to struggle so much?” And I would gently remind them that surgery was no picnic, and to try diet and exercise first. “But it’s so hard!” they would say. I would acknowledge their difficulties and offer lots of empathy, and firmly encourage them to stick with their diet. In the end I found that only half of my study subjects could manage to stay on the diet for months at a time. So what should the other half do? Give up and let their diabetes ravage their bodies?

My friend and colleague Dr. Charlie Smith rightly points out that weight loss surgery can dramatically improve the health of people who have been unsuccessful at losing weight through diet and exercise. Heart disease, diabetes, and cancer rates were dramatically improved for morbidly obese people after weight loss surgery. So there is a clear benefit for some people to have the procedure.

However, the caveats should not be overlooked. First of all, weight loss surgery does not guarantee long term weight loss. It’s possible to gain back all the weight lost if eating behaviors are not changed. The human stomach is amazingly stretchy, and even if it’s surgically reduced in size, with repeated overeating it can eventually stretch to accommodate large meals again. Secondly, some types of weight loss surgery (like gastric bypass) can affect the body’s ability to absorb critical vitamins. Without enough of these nutrients, one can end up severely anemic, and osteoporotic just to name a few serious side-effects. And finally, the surgery itself is quite dangerous, carrying with it a potential risk of death as high as 1 in 200!

So weight loss surgery can be life-threatening, and is not a quick fix for a long term problem. However, morbid obesity itself is so dangerous (with the increased risk of heart disease, diabetes, and cancer) that it may require this extreme intervention to actually save lives. For people who have more than 100 pounds to lose, and have sincerely tried diet and exercise without success for a prolonged period, then weight loss surgery may be an appropriate option. For those whose lives are not at risk because of severe obesity, it doesn’t make sense to undergo such a risky procedure.

Are some people successful at losing a large amount of weight and keeping it off without surgery? Yes! The National Weight Control Registry keeps a list of thousands of Americans who have lost at least 30 pounds and kept them off for at least 6 years. What’s their secret? You guessed it – regular exercise and a calorie controlled diet. Some other things that these “successful losers” have in common: 1) they eat breakfast 2) they have a cardio machine at home 3) they weigh themselves regularly.

If you’d like to meet a group of people who are working towards long-term weight loss success, feel free to join my weight loss support group. We have weekly challenges, tools and trackers, a vibrant discussion group, and free medical insights to help you along your way. Weight loss is really hard to achieve by yourself. It takes encouragement, support, and a community of like-minded folks who are determined to make a difference. You can do it!… and I’d be honored to support you along the way.

P.S. There’s a special group forming at Revolution Health for folks who need to lose 100 or more pounds. It’s called “Overweight But Not Giving Up.”  Check it out.This post originally appeared on Dr. Val’s blog at RevolutionHealth.com.

Crohn’s Disease: Update From Dr. Susie Kane

Dr. Susie (Sunanda) Kane is a Crohn’s Disease expert who just moved from the University of Chicago to join a team of researchers and clinicians at the Mayo Clinic in Rochester, Minnesota.  Susie was kind enough to answer some questions about Crohn’s recently.  We used the phone interview to create a short article at Revolution Health, but I think that listening to the entire conversation could be of benefit to those who desire deep and broad information about the disease.

In fact, a dear blogger friend of mine has a daughter with severe, fistulizing Crohn’s disease.  She has been in the hospital for 2 months, unable to eat.  It is my sincere hope that interviews like this one will go a long way to frame the discussion of the multiple treatment options for those struggling with this challenging disease.

We asked Dr. Kane what the common misconceptions are about Crohn’s disease, then she described the 3 types of Crohn’s disease, how they’re diagnosed and treated, and the latest cutting edge research that make a substantial improvement in the lives of those living with the disease.  The interview is about 30 minutes in total.  Enjoy!This post originally appeared on Dr. Val’s blog at RevolutionHealth.com.

Dr. Val, GastroGirl, and Chef Rock – Revolution Health & Hell’s Kitchen?

I watched the final episode of “Hell’s Kitchen” last night – a cooking show where a mean chef berates young chef hopefuls in a series of competitive cooking contests.  The host of the show was almost as vicious as my vascular surgery preceptor in medical school… you docs out there know what I mean.

Anyway, I had the pleasure of being the sous chef for Chef Rock at a recent charity event for celiac disease awareness.  GastroGirl (Jackie Gaulin) and I helped him whip up a delicious, gluten free meal and CNN’s Heidi Collins taste tested our dish.  Although our shrimp and grits lost to a rival “coriander encrusted skate” I always thought that chef Rock was a winner.

And here he is: the top chef of Hell’s Kitchen.  Congratulations, Rock!  I’d be delighted to work as your sous chef in Las Vegas… see you at the B. Smith’s victory party!This post originally appeared on Dr. Val’s blog at RevolutionHealth.com.

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