Celiac Disease: A Diagnosis Often Missed
There's a disease that American doctors are absolutely terrible at diagnosing. It's estimated that three million Americans have celiac disease and only a small percentage of them know it. In celiac disease, a component of wheat, rye, and barley called gluten sets off an immune reaction that attacks the intestine and can affect the entire body.
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Patients are unable to properly absorb essential nutrients because the absorptive fingers (villi) in the small intestine have been damaged or destroyed. Doctors usually miss the diagnosis because they don't realize how variable the disease can be. Here is a list of associated symptoms and problems:
Diarrhea, abdominal pain, bloating, gas, distention, weight loss, constipation, irritable bowel syndrome, failure to thrive in infancy, vomiting, short stature, iron deficiency with or without anemia, poor performance in school, delayed puberty, infertility, recurrent miscarriage, osteoporosis, vitamin deficiencies, fatigue, tooth discoloration and dental enamel defects, skin disorders, elevated liver enzymes, Down syndrome, Sjogren's syndrome, aphthous ulcers (canker sores), arthritis, depression, nerve and balance problems (peripheral neuropathy and cerebellar ataxia), irritability in children, seizures, and migraines. Patients with other autoimmune diseases such as type 1 diabetes and thyroiditis are at increased risk for celiac disease.
Click here for the National Institute of Health's information on celiac disease.
There appears to be a slight increase in the
risk of lymphomas and gastrointestinal cancers that,
in one study, returned to normal after five years of a gluten-free diet.
The diagnosis is usually missed because doctors don't think of it. I was taught in medical school thirty years ago that patients always have dramatic symptoms such as diarrhea and weight loss. Wrong. We now know that about half of patients have atypical symptoms that are included in the long laundry list above. Although doctors are
becoming more aware of the illness, it takes an average of more than four years for the correct diagnosis to be made in the small percentage of patients in whom the diagnosis is not missed altogether.
New England Journal of Medicine on Celiac Disease.
There are
simple blood tests that can detect celiac disease over 90 percent of the time and that only rarely give false positives. The diagnosis is then confirmed by an upper endoscopy. With the patient sedated, a small, flexible tube is slipped into the mouth, down the esophagus and stomach and into the first part of the small intestine (duodenum), where biopsies are taken and subsequently examined for changes seen in celiac disease.
Treatment is a gluten-free diet -- easier said than done, especially for a child who wants to be like everybody else and eat pizza, cookies, and cake at birthday parties. Patients have to be extremely vigilant because gluten is in many unexpected foods, such as soy sauce, candy, and malt flavoring.
Consultation with an experienced dietitian is crucial because some older materials distributed by doctors, dietitians, and nutritionists are out of date and cause patients to avoid certain foods unnecessarily. There are many Web sites that provide excellent information about diet (see below). There's research into developing a pill that would help people with celiac disease, but it's not ready for prime time yet.
The key to improving our dismal rate of picking up celiac disease is to increase awareness both in physicians and patients. One
study found that general practitioners actively looking for the disease increased their rate of diagnosis by 43 fold.
Anybody with any of the long list of symptoms or problems listed above should consult a doctor and discuss whether testing for celiac disease is appropriate.
There are many ways that celiac disease can disguise itself. Here are four to especially look out for:
•
A child with behavior or learning problems
Celiac disease can cause cognitive difficulty that has been called "brain fog." The causes are unclear but may include nutritional problems, inflammation, or immunologic damage in the brain. It's well known that children with iron deficiency - with or without anemia -- do worse in school.
Researchers suspect celiac disease may be linked to developmental delay and ADHD.
•
Irritable bowel syndrome
There is an
increased risk of celiac disease in the 10-15 percent of adults who carry the diagnosis of "irritable bowel syndrome" (IBS). Many of the symptoms of IBS such as diarrhea, constipation, bloating, and abdominal pain also occur in celiac disease.
•
Iron deficiency
A simple blood test will detect
low iron, a relatively common condition that is usually not from celiac disease. However, low iron may be the only clue to celiac disease, so it's important to maintain a high index of suspicion. Remember that some patients can have both a relatively innocent cause of iron deficiency (such as poor dietary intake or menstrual blood loss) AND malabsorption of iron due to celiac disease.
•
Osteoporosis
Untreated celiac disease - with its associated low vitamin D and decreased calcium absorption --
increases the risk of osteoporosis. Although there is disagreement among
experts,
some researchers have advocated that all patients with osteoporosis be tested for celiac disease.
Others say to reserve routine testing for men and pre-menopausal women with osteoporosis because osteoporosis is less frequent in these groups compared to postmenopausal women and therefore it's important to look for unusual causes such as celiac disease. In any case, all patients with osteoporosis should be considered for celiac testing on an individual basis.
It is unacceptable that millions of people are suffering from a disease that can usually be easily treated with diet. Patient and physician education is crucial. If you send this blog to one hundred of your friends, the odds are that one of them will have celiac disease and not know it. You could change somebody's life.
For this week's CBS Doc Dot Com, I discuss celiac disease with a world expert, Dr. Peter Green, Professor of Clinical Medicine and Director of the Celiac Disease Center at Columbia University Medical Center. To see the video, click below:
For online celiac disease resources:
The Celiac Disease Center at Columbia University
National Library of Medicine
Celiac Disease Foundation
About.com: Celiac Disease
Celiac Sprue Association
For more information on gluten-free diets for celiac disease:
www.celiac.com
Celiac Chicks
Glutenfree.com
Kinnikinnick Foods
Foods By George
As time went on my son began losing weight and having terrible stomach aches/cramping and diarreah. Finally through our own research, we asked that he be tested for celiac. He tested positive ...off the charts... and his endoscopy showed extensive damage to the intestines which explained why he was not absorbing nutrients and losing weight. I think this should have been picked up far sooner and It is certainly worth a blood test if you have a seriously picky eater. I think my son suffered needlessly for years. He is doing amazing and gained 14 lbs to date.
http://www.betterbones.com/alkalinebalance/alkalineformingfoods.aspx
And if you don't know anything about this way of eating (which I did not before startng), here's another good article about blood Ph ..
http://www.betterbones.com/alkalinebalance/default.aspx
Since I learned that I have Celiac disease, I've learned that I have five cousins with it. Also, my daughter and grandson have been diagnosed with it.
I look forward to the day when doctors understand that a simple blood test can save so much suffering and health care dollars.
For those who are considering a gluten free diet, it is really not that difficult. More and more supermarkets and restaurants are offering gluten free options. And, groups such as Yahoo's SillyYaks are great resources for information and support. There are also many blogs dedicated to gluten free cooking with terrific recipes.
Gluten Free, Seizure Free and Cancer Free,
Ann F.
www.culturalcloth.wordpress.com
Once you have decided on the path of a gluten-free lifestyle, check out all the free education materials on our website: www.gluten.net/resources.php. We understand how hard it is to find reliable information. The websites listed in the story are great. For more reputable sites, see the resource section at www.gluten.net.
Living gluten-free need not be hard any longer. Why I just returned from Orange County CA and in the airport (John Wayne Airport) there was a store window sign proudly noting "we have gluten-free." The number and variety of products they carried was wonderful.
richard
Toni
There are plenty of resources ..just make sure that you get experts like Dr. Green and the expert organizations.
It's much more common to get GF foods now, but many of the pre-packaged GF foods are nutritionally empty. Many are rice based, non-enriched, empty of vitamins and fiber (which celiacs are often deficient in to start with). Stick to naturally GF foods - fruits, veggies, unadulterated meats and whole-grain GF grains; eat the pre-made breads, crakers, sweets etc. only occasionally.
It's a whole new ball game out there to become healthy again. People don't understand that tapioca flour and white rice flour have very few nutrients to give. Why eat them?
brw
A GF diet is a life-changing decision, and few people are going to stick to it without either a) noticeable improvement, or b) a positive diagnosis.
"Misdiagnoses would not be acceptable for those receiving false positives" - perhaps - but the more relevant point is that YEARS of misdiagnoses are not acceptable for those who are suffering, sick, malnourished and are receiving no support from their physican.
Then there are people who have a non-Celiac gluten intolerance or gluten allergy (an allergy and intolerance not being the same thing, of course). The only test for that is to withdraw gluten from the diet completely and see if symptoms improve. This is what I turned out to have, after my doctor looked at my symptoms and did all the above tests. I'm in Australia, BTW, and my doctor actually suggested it to me that we should check for it while I was being investigated for other chronic diseases.
Frankly if withdrawing gluten from your diet improves your health that much, go for it. You may want to get tested for the Celiac gene so that you can encourage your family members to get tested, but this is one case where self-diagnosis doesn't harm. Few people who start eating gluten free when they don't absolutely have to will stick with it, as it's a pain to deal with.
in Dr. Peter Green for this discussion on Celiac Disease. I have met him in person and have attended some of his very informative seminars. Thank you from the bottom of my heart!
Your story exemplifies why patients must not be intimated by physicians who do not listent to them. I had a wonderful teacher who taught me "If you let patients talk long enough, they'll actually tell you what's the matter." Good for you for being persistent and finally getting the correct diagnosis for your son.
Jon
Chronic anemia - and I'm assuming it was from iron deficiency - MUST be investigated. Thirty years is a long time to wait for the correct diagnosis but, sadly, celiac disease is often misdiagnosed for many years. The average delay in diagnosis used to be ten years and is now "only" about four years, so we are making some progress. But we must get the word out about celiac disease so that both doctors and patients learn to recognize its many disguises.
Jon