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Running head: CELIAC DISEASE 1 Celiac Disease Diana VanRhee Ferris State University English 321 Rick Amidon April 15, 2013 CELIAC DISEASE 2 Table of Contents Page 3. Abstract Page 4. Introduction Page 5. Prevalence of Celiac Disease Page 5. Symptoms Page 6. Diagnosis Page 7. Types of Celiac Disease Page 7. Management Page 8. Medications Page 9. If Left Untreated, Then What? Page 9. Summary Page 11. Glossary Page 12. References CELIAC DISEASE 3 Abstract This paper defines celiac disease (CD) and how it is commonly diagnosed. It reveals that in the past, it was common for a person to go years before receiving a proper diagnosis. It also reviews the history of CD, symptoms, treatment and who is affected by it. In this paper, you will find information on managing CD and the importance of it, along with some resources available to an individual who is newly diagnosed. CELIAC DISEASE 4 Celiac Disease Introduction Celiac disease (CD) or Celiac Sprue is clinically defined as “a multisystem disorder that causes the body’s immune system to respond to the protein in certain grains.”(Bower, Sharrett, & Plogsted, 2007, p. 2). There are several protein complexes which are found in a variety of grains. Gliadin, a protein complex found in wheat type grains, horden is in barley type grains, and rye contains secalin. (Bower et al., 2007) Gluten is common in all three of these grains and will cause an allergic reaction, an autoimmune response from the body. The reaction from the immune system causes damage to the lining of the small intestine, otherwise known as CD. (Celiac Disease, 2007). Gluten can be found in other grains, such as corn, although that will not cause any ill effects on a person with CD. In an autoimmune response, the immune system over reacts and works against itself. The small intestine has villi (small finger like projections), that help food and nutrients to be absorbed. In a person with CD, they eat gluten and these villi lay flat or are missing entirely. (Burns, 2008). So the food, when digested, will not be absorbed into the body, losing the nutritional value and is shipped out of the body at an accelerated pace. In the last decade, people started hearing the terms “gluten intolerance”, “glutensensitive”, or even wheat allergy. Does this mean that CD is a new disease? Prior to 2000, the general public had a perception from the medical world that CD was a “rare disorder afflicting children with severe diarrhea and failure to thrive, and where clinical improvement on a gluten free diet led to a diagnosis (Burns, 2008, Foreword 1, 2008). It was said in 250 A.D. that Aretaus of Cappadocia used a term “koiliakos”, meaning “suffering of the bowels” for symptoms that doctors now believe is CD. Also, in 1888, Samuel Gee, MD viewed some clinical accounts of adults and children who presented with gastro-intestinal symptoms such as bloating, gas and CELIAC DISEASE 5 diarrhea. A few decades later, in 1954, Willem Karel Dicke, MD linked ingestion of wheat proteins as the cause of CD and he related it to small bowel change. (www.csaceliacs.org/info/history_of_celiac_disease.jsp, 2013). Dr. Stephen Friedl, MD, DO, has been practicing for nearly 20 years in endoscopy and surgery. He believes that there has been an increase in the diagnosis of CD due to the more accurate serology testing and the biopsies performed of the small intestine. “In the past, endoscopy was done to observe the lining of the small intestine, whereas nowadays, a biopsy is almost always included.” (S. Friedl, personal communication, April 9, 2013) Prevalence of CD The human body is wonderful, complex and yet can be mysterious at times. So, how does one acquire CD? CD is a genetic disorder, so it tends to run in families and certain ethnic groups. (Burns, 2008). “Humans inherit one set of genes from each parent. Celiac disease is associated with two genes, HLA-DQ2 and HLA-DQ8. To have CD, you must inherit either or both of these genes from your parents” (Burns, 2008, p. 7). While European ancestry is the primary targeted population, Irish, Canada, Italian, Sweden, Finish and Indian also have higher rates of CD. Interestingly enough, research shows that it is rare for non-Caucasian ethnic groups to be diagnosed with CD. However, there have been cases in Sudanese, Cantonese, Hispanic, Israeli, Jew and Arab, although it is not common. (Burns, 2008) Females will be diagnosed at a rate of 1.5-2.1 times more than males, with the median age being in the 40’s. This data could be hindered, because females generally seek medical attention more than males. (Burns, 2008). Symptoms CELIAC DISEASE 6 Symptoms vary from person to person. An individual can have a variety of vague symptoms that are multisystem related. Often patients will see the advice of several physicians, over the course of several years, which sometimes leads to misdiagnosis. Lin, a current patient with CD saw several different doctors over the course of ten years, before being referred to a gastroenterologist. A positive serology test and a positive small intestine biopsy revealed her diagnosis of CD. (L. Deboer, personal communication, April, 2013). The most common symptoms of CD are anemia, fatigue, bone and joint pain, abdominal cramping and bloating, diarrhea and dermatitis herpetiform (an itchy rash). Although there are many more symptoms, only these will be addressed in this paper. Anemia is a low blood level that is directly related to mal absorption of nutrients in the small intestine. When a person is anemic, they suffer from fatigue and malaise, which is just a general feeling of discomfort or illness. Both of these symptoms are prevalent in a host of other diseases, which is one reason why CD cannot be diagnosed by symptom alone. (Burns, 2008). Abdominal bloating, gas and diarrhea often go hand in hand. They are also common in other intestinal diseases, such as Irritable Bowel Syndrome. The difference in CD is that the villi in the small intestine are lying flat or are missing. This can only be detected with an endoscopy and biopsy of the small intestine, Dermatitis Herpetiformis (DH), is sometimes called CD of the skin. It causes intense itchy dry skin that blisters. Often, due to the scratching, the blisters are popped and gone by the time a patient seeks medical attention. (Bower et al., 2007) Diagnosis As you can see, it is difficult to diagnose a patient on symptoms alone. Research and evidence is overwhelming that the gold standard testing is a small bowel/intestine biopsy. This is CELIAC DISEASE 7 a minimally invasive endoscopic procedure where a biopsy (a small sample) of the tissue is taken from the intestine. The villi will be looked at under a microscope to determine if CD is present or not. If it is present, the normally finger shaped villi will be shortened, flattened or not present. Serology, meaning the study of the blood serum, is done to test for the presence of several antibodies. A patient needs, yes, NEEDS, to be eating a regular diet containing gluten for 4 weeks prior to the serology testing. When gluten is present in the body, the auto immune system fights, thus elevating the levels of Antigliadin Antibody (AGA), Antiendomysial Antibody (EMA) and Tissue Transglutaminas Antibody (tTG). (Bower et al., 2007). Types of Celiac Disease “CD can be classified in four categories: 1. Classic CD - Manifests with atrophy of the villi, weight loss, diarrhea and bloating 2. Atypical CD – Manifests without the typical gastrointestinal symptoms 3. Undiagnosed CD – Patient has classic symptoms, but is not yet diagnosed. Eventually a diagnosis of CD is made 4. Silent DC – The absence of symptoms in an individual that has had a positive small bowel biopsy and positive serology testing “(Burns, 2008, p. 19-20). Management Okay, so now you have a positive diagnosis of CD, now what? Eliminating gluten from the diet will alleviate the symptoms, but it will take time to rebuild the blood supply and CELIAC DISEASE 8 replenish the lost nutrients. An individual must be diligent in their gluten-free (GF) diet. (Bower et al., 2007). This can be challenging, because gluten is found in many manufactured products. An appointment with a dietician is essential and should be a priority. A GF diet excludes wheat, barley and rye. A food is labeled GF when a “food contains fewer than ten parts gluten per million parts product.”(Burns, 2008, p. 109) ns, 2008). Fresh fruits and vegetables, potatoes, unprocessed meats and most dairy products, such as eggs, milk and hard cheese are naturally GF. If a product is not labeled GF, it could be manufactured in a factory that makes gluten products, thus causing cross contamination that could be harmful for the individual with CD. (Celiac Disease, 2007) This acronym does a great job at describing CD and acts as a reminder to us all. Consultation with a skilled dietician Education about the disease Lifestyle adherence to a gluten-free diet Identification and treatment of nutritional deficiencies Access to an advocacy group Continuous long-term follow-up by a multidisciplinary team (Bower et al., 2007, p. 80) Reading labels is a must! Becoming educated about CD and educating your family and friends is a key component in leading a GF lifestyle. “Celiac disease is a permanent disease….however, if you change your habits and adopt a gluten-free lifestyle, you can reverse the damage associated with celiac disease.” (Celiac Disease, 2007, p. 2) Medications CELIAC DISEASE 9 There are medications available both over the counter and by prescription. These will not cure CD, but help to manage some of the symptoms when you have a flare up. Over the counter medications include Miralax and gluten-ease. Gluten-ease is a digestive enzyme that when taken with a gluten containing food, will minimize the abdominal discomfort and help break down gluten. (L. Deboer, personal communication, April, 2013). Steroids can be prescribed by your doctor and help with the inflammation of the digestive tract. Inflammation is where a part of the body is reddened, swollen, hot and often painful. (Burns, 2008) There are a variety of support groups available, along with a wealth of knowledge available on the internet. The following websites are reliable www.csuceliacs.org and www.celiac.org (The Celiac Disease Foundation). If Left Untreated, Then What? When a patient is left untreated after being diagnosed with CD, further damage to the intestinal tract is likely to occur along with continued nutritional deficiencies are to be found. (Celiac Disease, 2007). According to the Celiac Sprue Association, “undiagnosed CD increased the risk of cancer by 200%- 300%.” (McCabe et al., 2012, p. 8). “The relationship between Celiac Disease and cancer is well established and has been described in the medical literature for years. There is a well-known association between Celiac Disease and cancer of the head and neck, esophagus, adenocarcinoma of the small intestine, and lymphoma. Many types of lymphoma are related to abnormal cell types; the version seen in conjunction with Celiac Disease is called enteropathy-associated T-cell lymphoma (EATL). (Burns, 2008, p. 174-175). Summary CELIAC DISEASE 10 Celiac Disease is not a new fad disease or a catch all medical term. It is a serious medical condition, that when properly diagnosed and treated, can be managed and the damage repaired. Although research has increased by more than 100% in the last five years alone, more needs to be done. (Bower et al., 2007). By taking ownership of their health, adhering to a strict GF diet, educating themselves and their loved ones, patients will be able to manage their new GF lifestyle. “Healing is a state of mind that needs to be nourished and cultivated. Hope is the central path of healing.” (Bower et al., 2007, p. 95) CELIAC DISEASE 11 Glossary Adenocarcinoma- a form of cancer that forms on glands Anemia- low blood count or low blood levels Atrophy- to waste away Autoimmune disease- a disease where the body attacks itself and causes damage Biopsy- removing a tissue sample Dermatitis Herpetiform- intense, itchy rash with tiny blisters Endoscopy- minimally invasive procedure using a light and scope to obtain tissue samples Gastroenterologist- a doctor who specializes in treating diseases of the liver, stomach, intestine, pancreas, esophagus and who performs endoscopic procedures Inflammation- part of the body that becomes reddened, swollen, hot and often painful Lymphoma- cancer of the lymph nodes Malabsorption- inadequate nutrition caused by impaired food absorption Malaise- feeling of discomfort or illness Serology- study of blood serum related to immune studies Small Intestine- part of the digestive tract where food is digested and nutrients are absorbed Villi- fingerlike projections found in the small intestine and aid in digestion and absorption of food CELIAC DISEASE 12 References Bower, S. L., Sharrett, M. K., & Plogsted, S. (2007). Celiac Disease: A Guide to Living with Gluten Intolerance. New York, NY: Demos Medical Publishing, LLC. Burns, D. L. (2008). 100 Questions and Answers about Celiac Disease and Sprue: A Lahey Clinic Guide. Sudbury, MA: Jones and Bartlett. McCabe, M. A., Toughill, E. H., Parkhill, A. M., Bossett, M. S., Jevic, M. S., & Nye, M. L. (2012, October). Celiac Disease: A Medical Puzzle. AJN, American Journal of Nursing, 112(10), 34-44. http://dx.doi.org/10.1097/01.NAJ.0000421019.77542.65 Understanding Celiac Disease [consumer brochure]. (2007): AGA Institute. www.csaceliacs.org/info/history_of_celiac_disease.jsp. (2013).