Celiac disease: Are you the one?

<p>Max was born healthy. Somewhere in the second half of his first year he started getting one infection after another, his growth slowed, his behavior changed and he failed to thrive as expected. It took us more than a year to find the cause of his increasingly severe health problems. The diagnosis was clear once we thought to check for it. He was lucky that it only took a year to figure it out.</p><p>Barbara was in her 40s when her bone density was first evaluated. She and her doctors were shocked to find that she had severe osteoporosis. Her fragile bones were the first sign of the same autoimmune disease that Max had.</p><p>But hers took 40 years to diagnose, and by then the damage was done.</p><p>Celiac disease, otherwise known as celiac sprue or gluten-sensitive enteropathy, is the most common genetic autoimmune disease in the world. It affects one in 133 Americans. Five to 15 percent of the offspring and siblings of a person with CD are affected, and 70 percent of identical twins share the disease. It is more common than lupus, rheumatoid arthritis, multiple sclerosis, epilepsy, or Parkinson's disease.</p><p>But CD often goes undetected.</p><p>In the United States, the time from onset of symptoms to diagnosis of CD averages 11 years, and this lag time has some serious consequences. Untreated celiac disease increases the risk of cancer by 200 to 300 percent and costs our healthcare system $14.5 billion to $34.8 billion annually.</p><p>Part of the problem is that there are more than300 signs, symptoms and complications that may result from CD. These include abdominal pain or bloating, behavior disorders, anemia, arthritis, chronic constipation or diarrhea, diabetes, migraines, severe skin rashes, malnutrition, osteoporosis and chronic fatigue.</p><p>The list is extensive enough that we might be tempted to screen everyone for this disease, but it's not that easy. Diagnosis is not simple and it is not cost effective to screen everyone with vague symptoms.</p><p>Although you will see CD inaccurately referred to as “wheat allergy,” patients with celiac disease are not allergic to wheat. They have a genetic abnormality in their small intestines. When these individuals ingest certain proteins found in wheat, barley, rye and oats, they inappropriately activate their immune system. This immune response attacks the lining of the small intestine and damages the tiny hair-like projections that absorb nutrients from food. Left untreated, damage to the small intestine can be chronic and life threatening.</p><p>The first steps in diagnosing CD are blood tests. In autoimmune diseases, the body produces unusual amounts of specific antibodies to attack the perceived threat. For these antibodies to be present, the patient must have been eating gluten for four to six weeks prior to testing. Blood is then drawn to check for endomysial antibodies, or EMA, and tissue transglutaminase antibodies, or tTG.</p><p>If these tests are positive, a biopsy of the small intestine is indicated. Although abnormal blood tests give valuable clues, only a tissue biopsy can give a definitive diagnosis of celiac disease. And although biopsies are well tolerated, many refuse an invasive and somewhat expensive procedure.</p><p>Some individuals with symptoms choose to presumptively diagnose themselves by adopting a gluten free diet. If their symptoms resolve, they assume they have celiac disease. But they may instead be effectively treating a food allergy.</p><p>Wheat allergies are also abnormal immune responses to proteins in wheat. But they do not cause destruction of the small intestine, and are not associated with the significant risks and complications of celiac disease.</p><p>Although the diagnosis of celiac disease is not simple, the disease is prevalent enough to keep in mind when symptoms warrant investigation. Missing this diagnosis costs billions of healthcare dollars and can cause severe long term health consequences.</p><p>Max had the biopsy and immediately changed to a gluten-free lifestyle. Overnight, he became a healthy little boy, quickly regaining his growth curve. He continues to thrive as long as everything he ingests, from medications to food products, is completely gluten-free. He was the lucky one.</p><p>For further information on celiac disease: www.celiac.org or www.csaceliacs.org.</p><p>Dr. Stacey Kerr, a longtime Sonoma County family physician, graduated from UC Davis Medical School and has been certified in her specialty by the American Board of Family Medicine. Her columns are not intended as a substitute for hand-on medical advice or treatment. Consult your health care provider before adhering to any recommendations in this column. E-mail comments to drkerr@the-doctors-inn.com.</p>