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Celiac disease is the world's most common genetic auto-immune disease. It is ten times more prevalent than Type-1 diabetes, yet 97% of those with celiac disease have yet to be diagnosed. While symptoms can sometimes be vague, ranging from none at all to everything from fatigue to gastrointestinal issues to joint pain, it is important that physicians have celiac disease on their radar so that the millions of Americans with the disease can be properly screened and diagnosed.

Left untreated, celiac disease can lead to many serious complications including osteoporosis, thyroid disease and cancer. The disease is triggered by the ingestion of gluten--a protein found in wheat, barley and rye. At this time, the only treatment for celiac disease is strict life-long adherence to a gluten-free diet. But there is hope--our research team is leading the way to a cure.

Let's go back a sec. Medical schools have traditionally spent little time teaching about or studying the disease, because it was commonly thought that doctors might never run into it in the entire course of their careers. Add to that the fact that there are so many symptoms of celiac disease and yet someone can be totally asymptomatic. That makes it pretty tricky. So, what is the Celiac Disease Center doing to bring the medical profession up to speed on celiac and the importance of catching it before the patient suffers unnecessarily and it potentially turns into something worse?

We are working hard to re-educate doctors, nurse practitioners and dietitians about celiac disease. In fact, we offer the nation's only Preceptorship Program in Celiac Disease--a two-day intensive, hands-on course with our experts. It is an immersion in the disease complete with lectures, interactive case discussion and time with patients in clinic. Additionally, we exhibit at and participate in industry conferences and our experts travel the globe speaking to medical professionals about celiac disease.

Further, in 2013, our Center will host the 15th International Symposium on Celiac Disease.

Sounds good. You're obviously out in front on this. The logical follow-up question is based on your statement that fully 97% of all cases of celiac are undiagnosed. What is the Celiac Disease Center doing to remedy the lack of awareness of the general public?

We are constantly working to raise awareness in both the professional community as well as with the general public. We do this through many channels including, but not limited to, speaking engagements, community outreach to support groups and others, annual free blood screenings, accurate reliable information on our website, corporate partnerships, public service announcements, public relations, advertising, media interviews and fundraisers.

It's time to get down to the nitty-gritty. What's involved in determining if someone has celiac disease? And how do you convince someone who may have absolutely no symptoms - and, in fact, feels great - that it might be worthwhile to be tested? Many people subscribe to the theory, "if it's not broke, don't fix it."

For most people, screening is a simple blood test that can be ordered by any physician. Our website has great factsheets describing the tests and/or process in great detail. (Please see the factsheets at our website.) Basically, if the antibody blood test comes back positive, then a biopsy of the small intestine is needed for diagnosis.

Nearly 1/3 of Americans carry the gene for celiac disease, but only 5% of that population will ever develop the disease. The prevalence in first-degree relatives of a biopsy-diagnosed person is greatly increased, however. Therefore, anyone with symptoms should be tested. But first-degree relatives (with the genetic predisposition) should be screened every two-three years regardless of symptoms, and of course, immediately screened if they do have symptoms.

Untreated, regardless of symptoms celiac disease leads to serious complications, like thyroid disease, osteoporosis and cancer.

There's also a revealing statistic about the benefit of diagnosing celiac sooner rather than later. Can you share that with our readers, Carol?

Studies have shown that left untreated, regardless of symptoms, celiac disease causes a substantially higher mortality rate.

It is true that the longer it goes untreated, the more damage is done, so it is bet to catch it early. The good news about catching celiac disease is that once treatment is started the body begins to heal immediately. Many people don't realize how badly they felt until they start to feel good.

Here's what I was getting at, Carol. Let's look at some numbers from your website:

Research shows that children diagnosed before the age of four reduce their risk of developing additional autoimmune disorders. This advantage is tremendous, as children who are diagnosed between the ages of 4 and 12 have a 17% risk; from 12-20 years of age the risk goes up to 27% and an individual diagnosed above the age of 20 has a 34% chance of developing another autoimmune disorder.

and

Alaska, Delaware, Washington DC, Hawaii, Idaho, Maine, Montana, Nebraska, New Hampshire, New Mexico, North Dakota, Rhode Island, South Dakota, Utah and Vermont all have populations that are less than the number of people living with celiac disease in the United States.

That's pretty powerful. Or, how about this one, comparing the numbers of the [roughly three million] Americans with celiac with those suffering from other, more familiar, chronic illnesses?

Epilepsy affects 2.7 million
Cystic Fibrosis affects 30,000 people
17,000 people are living with hemophilia
Parkinson's disease affects 1,000,000 individuals
Ulcerative colitis affects 500,000 people
Crohn's disease affects 500,000
2.1 million are living with rheumatoid arthritis
Lupus affects 1.5 million people
Multiple sclerosis affects 400,000

This last set of figures clearly demonstrates that although celiac is not a disease that many people are familiar with, it does affect an awful lot of us. How did you become interested in celiac and consciousness-raising about it in the first place, Carol?

I was diagnosed with the disease about eight years ago, after nearly 10 years of misdiagnosis and actively trying to find out what was wrong with me.

The stars aligned as I was interested in leaving the private sector for the nonprofit world. And, as luck would have it, The University of Chicago was looking for a new director. Timing? Fate? Destiny? I don't know, but it has turned in to a very successful and fulfilling endeavor.

Can we talk more about your own story? How did you know something was wrong? What was it like stumbling from doctor to doctor with no relief?

I was actively seeking a diagnosis for more than 10 years. I had lots of GI symptoms, but what finally got me was the joint pain. I was very active--runner, tennis player, etc.-- but couldn't bend my knees one day. I was told it must be a strange virus or hepatitis; all the tests were negative. I was told my job was too stressful and that I should quit and move to the Bahamas. Too bad that wasn't an option! I saw countless doctors, even homeopathic doctors. No one could give me a clear answer.

Finally, my niece was diagnosed with celiac disease, which caused me to suggest that my GI doctor test me. Positive blood work led to a positive biopsy. After only two weeks of treatment, (following the gluten-free diet) I started feeling good. In fact, it was only then that I realized how terrible I had really felt. Misery had become my normal. I was a new person, full of energy and feeling great!

What a relief that must have been! Have you subsequently discovered still other family members with celiac disease?

I am the youngest of twelve. All who have taken the gene test have been positive; only one sister so far has been diagnosed.

Wow! So, explain this to me, please. All have been positive but only your sister has been diagnosed. Is this sister the mother of the niece who was diagnosed? And what does testing positive mean, exactly? Are the others in the clear? Or do all the non-diagnosed sibs have to go back to be retested periodically?

The gene test only indicates predisposition for the disease. Without the gene, it is virtually impossible to ever develop celiac. The two genes known to be associated with celiac are DQ2 and DQ8. If you have the gene, you could go your whole life without ever developing the disease. In fact, about 30% of the population has the genes, yet only 5% of that group ever develops the disease.

For first-degree relatives of someone who is biopsy-diagnosed, however, the risk is much greater. So, my siblings who have the gene are at higher risk than the general population.

My sister (yes, the mother of my niece with the disease) has celiac. Only some have done the gene test (don't get me started on those who chose not to do it! Despite all the research that shows even with no symptoms, celiac can be active and substantially raise mortality rates and lead to other complications like osteoporosis, thyroid disease and cancer!), of those who have followed up with antibody testing and/or biopsies, they are so far negative.

On this same topic, we (The Center) recently conducted research about the reasons first-degree relatives refuse testing, in my case, all very well-educated professionals, yet reluctant to find out. Go figure! [I'm] hoping this will be published at DDW (Digestive Disease Week) in May, 2011.

What a riveting name for a periodical! I bet it must make you crazy, knowing what you know and yet being unable to convince your nearest and dearest. So let's talk about something else. Since your diagnosis and revised diet, have you been able to go back to running and playing tennis?

Yes, since on the diet, I have returned to full activity. While my gut will probably never fully recover--I still run low on Vitamin D and B-12 despite prescription-strength supplements--it is light-years better than it was. Now, my fatigue can only be blamed on life as a working mother of a toddler!

I'm so glad to hear how much better you're doing. And what a lovely cause for fatigue! Do you have to worry about your child having celiac?

Yes, he does have the gene. We tested him in his first week of life so we could follow the best research on how to possibly prevent or delay the disease. For instance, breast-feeding is known to help as well as introducing gluten in very small amounts during four-six months of life, while breast feeding. For now, he is fine. He actually has already had two endoscopies (for other reasons) in which they took biopsies for celiac--so far he is negative. The protocol for a first-degree relative with the gene is to do the antibody blood tests every three years or immediately upon symptoms.

Well, you couldn't have taken care of it any sooner than you did, that's for sure. Anything you'd like to add, Carol, that we haven't touched on yet?

Just that it is so important to be tested properly before experimenting with the gluten-free diet. And, that The University of Chicago Celiac Disease Center is really at the forefront of research on celiac and gluten sensitivity...we hope to have a cure in the next 10-15 years! Please refer people to our website for the latest.

Our readers and I know a lot more about celiac disease than we did before! Thanks for talking with me, Carol. Please keep us in the loop.

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The University of Chicago Celiac Disease Center website

Putting Celiac Disease in Perspective (also from the website):

Type 1 Diabetes affects 3 million people; 6% (180,000) of those diagnosed also have celiac disease.

610,000 women in the US experience unexplained infertility; 6% (36,600) of these women might never learn that celiac disease is the cause.

350,000 people in the United States are living with Down Syndrome; 12% (42,000) of them also have celiac disease.

The number of people with celiac disease in the U.S. would fill 4,400 Boeing 747 airplanes.

It would take 936 cruise ships to hold every American with celiac disease.

Americans with celiac disease could fill Comiskey Park (now US Cellular Field, with 40,000 seats) to watch the Chicago White Sox 55 times.

U.S. fans with celiac disease could fill Soldier Field, the home of the Chicago Bears, 37 times.

The number of people with celiac disease in the U.S. is roughly equal to the number of people living in the state of Nevada.