Sunday, August 29, 2010

Strange Symptoms Without A Diagnosis? It Might Be Celiac Disease

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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.


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?¢ 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.


a?¢ 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.


a?¢ 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.


a?¢ 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 weeka??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.


For online celiac disease resources:


The Celiac Disease Center at Columbia University


healthtopics.html" >National Library of Medicine


Celiac Disease Foundation


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


About.com: Celiac Disease


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