- Discuss the immune reaction that occurs in celiac disease.
- List at least three typical and three atypical symptoms of celiac disease.
- Discuss how inflammation is responsible for the long-term complications of celiac disease.
- Discuss at least two complications that are a result of inadequate or unresponsive treatment of celiac disease.
- Describe the traditional treatment for classic celiac disease.
- List at list three adverse effects of the medication Dapsone.
Celiac disease, a disorder known to cause inflammation and absorption dysfunction of the gastrointestinal tract, has also been referred to as celiac sprue or gluten-sensitive enteropathy (Grossman & Porth, 2014). It is important to note that there is a distinct difference between celiac disease, gluten sensitivity, and wheat allergy. Celiac disease hallmarks small intestine inflammation that can lead to long-term damage to the wall of the small intestine. Gluten sensitivity may produce some of the symptoms of celiac disease but does not cause damage to the intestinal wall. Wheat allergies will cause more respiratory symptoms such as watery, itchy eyes; sneezing, and perhaps wheezing. Wheat allergies do not cause intestinal damage (National Institute of Diabetes and Digestive and Kidney Disease [NIDDK], 2016).
In the past, celiac disease was thought to be a rare disorder. However, with recent improvements in diagnostic tools, it is more commonly diagnosed. The disease was also previously thought to predominantly affect children as an absorption disorder, not an immune disorder. With the improvement in diagnostic testing and an enhanced understanding of the underlying pathology, celiac disease is more commonly diagnosed across the lifespan. Statistics vary from reference to reference, but the National Institutes of Health (NIH, 2019) statistics suggest that approximately 1 in every 141 Americans have celiac disease, but some are not aware they have the disorder. Other references, such as Grossman and Porth (2014), estimate that celiac disease affects from 1 to 6% of the population. The Celiac Foundation indicates that 1 out of every 100 people worldwide have celiac disease, and over 2.5 million people are living in the USA with undiagnosed celiac disease (Celiac Disease Foundation, 2019).
Etiology and Pathophysiology
Patients affected by celiac disease have an autoimmune disorder that results in direct inflammation of the gastrointestinal tract that must be treated with a gluten-free diet to avoid lifelong inflammation and subsequent long-term complications. Before diagnosis, the patient experiences inflammation that is most pronounced in the villi of the small intestine. The villi are responsible for helping provide a surface area within the small intestine that will assist in the absorption of nutrients broken down by the process of digestion. As the inflammation continues to damage the villi, they become shorter and flatter. This destructive process can produce decreased absorption and gastrointestinal symptoms experienced by the patient. Long term, this process causes damage to the intestinal tract and can lead to long-term complications such as cancer (National Institutes of Health, 2019).
Most persons with celiac disease have notable changes within their immune system involving alteration of their human leukocyte antigen. In the immune system, human leukocyte antigens assist the immune system with identifying which proteins belong to the patient and which proteins are foreign and should be destroyed by the immune system. In celiac disease, two genes, known as HLA-DQA1 and HLA-DQB1, are found to have variations. These genes are responsible for providing direction for making proteins in the immune system. When these genes have variants in increased numbers, it will potentiate an immune response which will result in the body attacking itself instead of outside proteins. In the case of celiac disease, the target of this inappropriate immune response is typically the villi of the small intestine. Not all persons with these variants will develop celiac disease, but persons who are genetically at risk are more likely to develop celiac disease. The actual response is triggered by a “segment of gluten protein that is known as gliadin” (NIH, 2019).
When people who are suspectable to celiac disease ingest gliadin, there is an abnormal immune response involving the T-cells. They commonly have increased levels of three antibodies: transglutaminase, endomysium, and gliadin. As discussed previously, this response will result in an inflammatory process affecting the small intestine (Grossman & Porth, 2014).
In addition to genetic susceptibility, there are other risk factors involved in the development of celiac disease. As is seen in other autoimmune disorders such as Type I diabetes mellitus, having one autoimmune disorder increases the risk for the development of other autoimmune diseases. Persons who have Turner’s syndrome are also at increased risk of developing the disease (Grossman & Porth, 2014).
While research does indicate a variety of contributing factors such as genetics in the development of celiac disease, the exact etiology is unknown. Additionally, others include what and how infants are fed; a history of gastrointestinal infections and bacteria within the intestinal tract; or emotional or physical stress that may initiate an immune response following significant events such as childbirth, surgical procedures, infections, and others (NIDDK, 2016).
In a pediatric patient in the infant or early toddler stage, symptoms may include failure to thrive, diarrhea, muscle wasting, abdominal distention, or malnutrition. Symptoms in a young child (3-10) may consist of anemia, shorter stature, dental defects, and constipation. These symptoms are considered the classic type of celiac disease (Grossman & Porth, 2014).
Symptoms of celiac disease in older pediatric patients or adults can vary from person to person and can manifest differently based on the age of the person affected with the disorder. The symptoms of celiac disease are typically due to inflammation involving the gastrointestinal tract and categorized as either an early symptom or a result of prolonged inflammation and consequent malabsorption. Some digestive symptoms may include but are not limited to diarrhea, weight loss, abdominal bloating, flatus, abdominal pain, constipation, ulcerations that appear in the mouth, and nausea/vomiting (NIDDK, 2016).
The nurse should recognize that many adults that are impacted by celiac disease do not present to their provider with gastrointestinal symptoms, but present with other symptoms such as fatigue or iron deficiency anemia related to poor absorption. Other atypical signs and symptoms found on examination include evidence of osteopenia or osteoporosis, which is a decreased bone density. From a central nervous system standpoint, the patient may complain of migraine headaches or paresthesias of the feet and hands. In more significant cases, the patient may experience poor balance, decreased cognition, depression, and seizures. The reproductive system may be impacted, as well. Early menopause and infertility are conditions commonly associated with celiac disease. Atypical symptoms, as listed above, are not usually gastrointestinal related but related to long-term inflammation or nutritional deficits caused by celiac disease impacting other body systems. Dermatitis herpetiformis is a condition that results in pruritis and a blistery skin rash (Ignatavicius, Workman, & Rebar, 2018). Dental examinations may reveal abnormalities indicative of celiac disease, which would indicate a need for the patient to see their medical provider (NIDDK, 2016).
The small intestine is the portion of the gastrointestinal tract that is most impacted by celiac disease. As discussed, there are a variety of repercussions from an impaired ability to absorb essential nutrients, vitamins, and minerals. The duodenum and jejunum are responsible for absorbing most of the iron and the duodenum accountable for absorbing calcium. Most nutrients and vitamins are absorbed throughout the three segments of the small intestine to avoid absorption disorders (Grossman & Porth, 2014).
It is also important to note that some patients will have very vague symptoms or no symptoms at all. The lack of symptoms make diagnosis difficult and lengthy; it may take multiple years to diagnose someone with celiac disease. Eventually, the inflammation worsens, and the consequent damage causes symptoms that were previously absent or vague more significant.
When a patient presents to their provider with clinical symptoms suggestive of celiac disease, the provider will order a variety of diagnostic studies after completing a history and physical exam. The provider will compile data from the medical history, the patient’s signs and symptoms, as well as the physical assessment findings. Testing should occur before the inception of a gluten-free diet. If the patient starts on a gluten-free diet before the completion of these tests, the results may not be accurate (Grossman & Porth, 2014).
In addition to testing those with symptoms, there are recommendations for others who should be tested that include: persons who have a first-degree relative who has been diagnosed with celiac disease, and those who have been diagnosed previously with an autoimmune disorder that has some known association with celiac disease such as type I diabetes mellitus (Celiac Disease Foundation, 2019).
It is sometimes challenging to determine celiac disease in children younger than three as it takes approximately one year of ingesting products such as cereal that would contain wheat or barley. Children must have ingested these products routinely for this period to produce an immune response to the actual gluten. If young children are symptomatic, they should be seen and evaluated by a pediatric gastroenterologist. Genetic testing might also be helpful in the pediatric client (Celiac Disease Foundation, 2019).
Studies commonly ordered include serum testing and possible intestinal biopsy based on positive serum studies. Serum blood tests will assess antibody proteins. Elevated levels suggest an immune reaction to gluten. Genetic studies may also be ordered to screen for human leukocyte antigens. The provider may determine the levels of total immunoglobulin A (IgA), antihuman tissue transglutaminase (tTG), and IgA endomysial antibody (EMA) immunofluorescence (Grossman & Porth, 2014).
It is imperative to remember and discuss with the client that they must be currently ingesting gluten to ensure the adequacy of the serum testing. The tTG-IgA or Tissue Transglutaminase Antibodies test is a very sensitive diagnostic study and will be positive in approximately 98% of those clients who have celiac disease. This diagnostic tool is thought to be the most sensitive test for making the diagnosis of celiac disease. If this same test is conducted on clients who have no symptoms of celiac disease and appear to be healthy individuals, it will be negative in approximately 95% of people. There is a rare possibility that a client who does have celiac disease would have a negative test. In clients diagnosed with other autoimmune disorders, there is a risk of a false positive with this test. If the provider's assessment indicates a stronger possibility that the client does have celiac disease, they will likely turn to additional testing, including but not limited to gastrointestinal biopsy (Celiac Disease Foundation, 2019).
Additional studies ordered and listed above include the EMA, which is the IgA Endomysial antibody is a very specific test and is more precise than tTG-IgA. There are some negative aspects of this test which include a higher incidence of false negatives in persons who do have celiac disease, and it is a costly test to conduct. This diagnostic tool is typically reserved for persons who are difficult to diagnose with other available tools. If the provider feels the client is presenting with false-negative results, they may order a total serum IgA. This study is done to assess for IgA deficiency and is also one indicator that a client may have celiac disease. However, having this deficiency may also contribute to a false negative tTG-IgA or EMA result (Celiac Disease Foundation, 2019), (NIDDK, 2016).
Other possible diagnostic studies could include genetic testing. While genetic testing does not have the capability of confirming the presence of celiac disease, it can be very helpful to the provider. If you have genetic testing done, the test is designed to screen for the presence of HLA DQ2 and DQ8. When either or both are present, it indicates there is an increased risk of developing celiac disease. The risk for the person screening positive for one or both is 3% compared to the general population, which is 1%. However, if you have a first-degree relative and share the same genotype, your risk also increases up to about 40% whereas when the genotype is unknown, there is approximately a 7% to 20% risk of developing celiac disease. The genotype validation gives the healthcare provider additional data in which to formulate a diagnosis. This testing is also helpful to persons who do have a first-degree relative who has celiac disease, but their test results do not indicate the same genotype. Their results would indicate no risk of developing celiac disease in the future (Celiac Disease Foundation, 2019).
Many people question the need for genetic studies, and there are many considerations in making that decision. Genetic testing can be costly, and insurance companies should be consulted to determine insurance reimbursement and out-of-pocket cost. Most healthcare providers would suggest this type of testing for clients who have been on a gluten-free diet already but not officially diagnosed. Additionally, genetic testing may be appropriate for clients who have a first-degree relative that is positive, and as discussed earlier, clients with difficulty determining a diagnosis based on a variety of issues. Genetic testing also aids in risk assessment and may assist the provider and client in future assessments. As discussed, the results of genetic testing can help evaluate other tests previously conducted, which produced results that are incongruent with each other (Celiac Disease Foundation, 2019).
Based on these results, additional tests may include an endoscopy or capsule endoscopy exam. An endoscopy allows the doctor to visualize the internal aspects of the gastrointestinal tract as well as take pictures and gather biopsies. Similarly, the capsule endoscopy utilizes a swallowed capsule to take photographs and transmit them to view the internal aspects of the tract noninvasively. A signed surgical consent form is required for the endoscopy as this is an invasive procedure. The nurse will need to explain what to expect and give the patient instructions before the procedure. The patient undergoing an endoscopy will need to be NPO (nothing by mouth) for 6-8 hours before the exam, depending on the facility policy. The nurse should review with the patient which medications to take before the procedure. There may be some medications the provider will want the patient to withhold for a few days before the procedure, such as anticoagulant medications. The patient should be instructed about the procedure and the medications to be used during the process. The nurse will assist the provider, monitor the patient, and assess the vital signs before, during, and after the procedure. Afterward, the nurse will assess for the return of the patient’s gag reflex before allowing them to have fluids and food by mouth. The patient should be made to feel safe and secure throughout the procedure, and the nurse or provider should answer any questions they have (Ignatavicius et al., 2018).
During a biopsy, the provider surgically removes small pieces of tissue that are examined by pathologists for antibodies and other criteria that would indicate celiac disease. Endoscopy and biopsies allow both the provider completing the procedure and the pathologist to directly examine the villi in the small intestine for the confirmative signs of celiac disease which include damage to the villi, flattening of the villi, presence of inflammation and antibodies in the tissue and villi. If the patient has signs of dermatitis herpetiformis, the diagnostic criteria may also include a skin biopsy. Dermatitis herpetiformis is typically treated with a gluten-free diet and possibly medications (Celiac Disease Foundation, 2019).
Treatment involves removing gluten and gluten products to reduce the immune response and ultimately decrease the inflammation in the small intestine. While there is not a cure available at this time, most people who follow a gluten-free diet will experience control of their symptoms and reduce the risk of developing another disease process. The patient must recognize the need for lifelong compliance to prevent chronic inflammation, long-term damage, and potential complications. Children will usually have decreased inflammation and healing of the intestinal tract quicker than adults (NIDDK, 2016).
Wheat, as well as barley, bulgur, durum, farina (milled wheat), malt, rye, semolina, spelt and triticale, contain gluten. The nurse should facilitate referral to a dietitian that can help them understand all the aspects of this diet. The patient will need to learn to read labels and identify all potential sources of gluten. Some patients might be able to eat small amounts of gluten and not experience symptoms, but underlying long-term inflammation remains a concern. Not only is gluten found in food products but also prescription and over-the-counter medications, including vitamins, minerals, and herbal supplements. Other products that may contain gluten include make-up (lip products), oral health preparations, products with adhesives (envelopes and postage stamps), and modeling clay (Play-Doh) (Mayo Clinic, 2019).
If the patient is experiencing complications related to nutritional deficits, the health care provider may order nutritional supplements. Most patients should be able to take the supplements orally, but if the malabsorption is significant, the supplements may be administered via injection. Supplements may include copper, folate, iron, zinc, or vitamins B-12, D, or K (Mayo Clinic, 2109).
The dietitian, health care provider, and nurse can all help the patient learn to read labels to assist them with their quest to be gluten-free. The dietitian spends time with the patient teaching them about labels, but on follow-up visits, the nurse can reinforce the content and answer any questions the patient may have. Understanding celiac disease and the dietary implications can be a long learning process, and the more help the patient has, the more successful they are likely to be. If a label on a package says gluten-free, then this product has met the requirements by the FDA to be labeled as such. The FDA allows this labeling on products that have less than 20 parts per million. It is still a good idea for patients to review the ingredients list before deciding on the product. The nurse should help patients look for ingredients and words that may indicate hidden gluten such as brewer’s yeast and oats. Potentially, oats could be contaminated from wheat products during the factory processing; thus, persons with celiac disease should use oats that are specifically labeled gluten-free (Mayo Clinic, 2019).
Besides the obvious products, most beers contain gluten, although there are several available in the US now that are safe. It is difficult sometimes for parents and children to figure out which candy is safe, as many sweets have gluten in them. Other products that usually contain gluten include gravy, imitation meats or seafood, most processed lunch meat, prepared rice mixes, soy sauce, and most salad dressings or sauces. Some snack foods (chips) can have gluten as well as many soups (cream-based soups). The nurse can help patients to find reliable online resources that will help them determine which candies and other snacks are safe (Mayo Clinic, 2019). Besides Mayo Clinic, there is useful information on gluten-free diets on the Celiac Disease Foundation website and Beyond Celiac Organization website. Many bookstores and online sites sell cookbooks for gluten-free recipes which are helpful especially for baking and holiday cooking. Many of these cookbooks will have guides about various flours to use for specific baked goods to achieve a palatable taste and texture.
Easy, gluten-free foods for patients include eggs and fresh meats, but they need to be cautious with anything prepared with breading, batter, or marinades. Fresh fruits and vegetables are gluten-free, as well as lentils, most dairy products, nuts, potatoes, distilled liquors, and wine. Some grains that patients might want to try are amaranth, buckwheat, corn (cornmeal, corn tortillas), quinoa, rice, and a variety of gluten-free flours. The patient should read the label of gluten-free flours to ensure the ingredients are safe (Mayo Clinic, 2019).
In addition to adherence to a gluten-free diet, patients that have dermatitis herpetiformis may be treated with Dapsone (Aczone) to help with the rash. Dapsone (Aczone) is an oral anti-infective medication that also has anti-inflammatory properties. Before starting Dapsone (Aczone), the provider must ensure the patient has no conflicting allergies or other health conditions that would contraindicate its use. While there are no specific studies regarding the use of this medication in pediatrics and geriatrics, it is not contraindicated. Other medications should not be taken concurrently with Dapsone (Aczone), so and the nurse should be sure to review all other current medications with the patient. The dose of Dapsone (Aczone) is started low and titrated up as the patient tolerates and should be taken at the same time each day. The rash should begin to improve in a few days, but it will take longer to resolve completely. The provider should be notified if the rash worsens. Common side effects include back, leg or stomach pain; nausea and vomiting; headache; dizziness; fever; anorexia; and insomnia. Some rare adverse effects are pruritus, redness, scaling or peeling of the skin, increasing skin rash, unusual fatigue, mood or other mental changes, paresthesias, sore throat, abnormal bleeding, and jaundice (Mayo Clinic, 2019).
For persistent intestinal inflammation in patients with unresponsive or refractory celiac disease, the health care provider may need to prescribe steroids and or other immunosuppressive medications to help control the inflammation and promote healing of the intestinal tract (NIDDK, 2016).
In summary, the treatment of celiac disease involves complying with a gluten-free diet for life to reduce inflammation and allow healing within the gastrointestinal tract. Treatment is essential to suppress current symptoms and to prevent long-term complications. The patient should be encouraged to follow-up with a dietitian for any concerns they have about their diet or to get help with such things as reading labels. Nursing should support their patients with celiac disease as they seek follow-up care with their healthcare provider. Nurses should assess for symptoms, assess dietary knowledge, and allow the patient to ask questions or to talk about their disease and how they are coping. Emotional support is certainly indicated, as being diagnosed with celiac will require many lifestyle changes for the patient. Patients with celiac disease should see their provider as indicated in their treatment plan. The nurse can also provide information about support groups that might be in their community or available virtually to share with other people who have celiac disease.
Patients with celiac disease will experience periods of remission and exacerbations. Exacerbations are typically related to dietary noncompliance. Some patients do not have symptoms or have very isolated symptoms. Patients with celiac disease on a gluten-free diet and whose symptoms do not resolve are often referred to as having nonresponsive celiac disease. Patients who experience this may be consuming foods contaminated with gluten. Contaminated products are those produced in the same area as products containing gluten, such as oats, and the patient is unaware of the manufacturing practices. Other times, patients are not aware that certain food preservatives or additives contain gluten. The nurse should ensure sufficient education regarding reading food labels to correct or avoid these situations. Other possible causes leading to unresponsive celiac disease could be an overabundance of bacteria growing in the intestine, dysfunction of the pancreas, poor digestion of sugar, or refractory celiac disease. An alternative explanation is an incorrect diagnosis, meaning the patient has something other than celiac disease such as irritable bowel syndrome (NIH, 2019)
Refractory celiac disease is rare but is defined as persistent symptoms of the disorder as well as inflammation of the small intestine despite adherence to a rigorous gluten-free diet for 6-12 months. Actual refractory celiac disease can result in significant complications and severe symptoms for patients. Refractory celiac disease is more common in women than men and often in older women. Commonly, this patient would present with significant complaints of diarrhea, pain, and considerable weight loss. Chronic diarrhea and weight loss could lead to other health concerns, such as vitamin and mineral deficiencies. Refractory disease requires more testing and additional treatment beyond a gluten-free diet, such as specialized nutrition and treatment of any significant deficiencies. These steps may lead to a notable improvement in some, while others with unremitting symptoms may develop additional disorders (Rubio-Tapia & Murray, 2011).
Patients diagnosed with celiac disease will need to follow a strict gluten-free diet to avoid long-term inflammation and complications. Early signs of complications may already be evident at the time of the initial diagnosis. Vigilant compliance to the diet and regular medical follow-up can decrease the risk of long-term complications. One potential complication is worsening malnutrition, either due to reduced caloric intake or deficiencies in vitamins and minerals, which can lead to a variety of anemias and other nutritional deficits. One mineral deficiency could be calcium, which could lead to the complication of osteopenia, osteoporosis, or osteomalacia, along with associated increased risk for fractures. Some research also suggests that long-term inflammation may be a cause for infertility and miscarriage related to deficient levels of calcium and vitamin D. Nervous system disorders linked to celiac disease include seizure disorders and peripheral neuropathy. Evidence suggests that celiac disease may also double the risk of developing coronary artery disease compared to the rest of the population. The inflammatory process in celiac disease may impact the ability to digest lactose or sugar, which further complicates the patient’s nutrition and can increase their symptoms. Concerns also exist regarding the development of intestinal cancers such as intestinal lymphoma and others within the small intestine (NIDDK, 2016).
Celiac disease must be diagnosed and treated to decrease the risk of developing another autoimmune condition. This risk is dependent upon the patient’s age at diagnosis. The lowest risk is in toddler and preschool patients (about 10%), and the highest risk is in adults older than 20 (around 35%) (Celiac Disease Foundation, 2019).
The NIDDK, a branch of the NIH, continues to do clinical trials along with many other organizations. Many of the clinical trials are focused on preventing celiac disease, while other studies continue to look for ways to improve diagnostic tools. There have been significant improvements in the diagnostic tools, but there remains a need to detect celiac disease quicker and more efficiently. Research studies and clinical trials are also investigating new treatment options for celiac disease. One such study is exploring antibody therapy for persons who are not responding to traditional dietary treatment. There is currently a clinical trial in the recruitment phase by Immunogenics to review the efficacy and safety of their new medication latiglutenase. There is potential for this medication to treat patient symptoms and help prevent damage to the intestinal tract. Currently, many studies are looking for better options to treat celiac disease, to make life easier for those suffering from chronic disease, and to prevent long-term complications (NIDDK, 2016; Mayo clinic.org 2019; and Celiac Disease Foundation, 2019).
Celiac disease has been diagnosed for many years, and research has provided better diagnostic tools allowing for earlier diagnosis. The standard treatment for classic celiac disease is a gluten-free diet and regular medical care which is successful for most people. Despite advances, persons with celiac disease must live with a chronic disease and the challenges of finding prepared foods that do not contain gluten. There are many new products on the market that are gluten-free, but many are more expensive and lacking in taste. Research continues to work for the betterment of those diagnosed with celiac disease by offering providers stronger tools, working to improve patients’ lives, and ultimately preventing long-term complications.
Celiac Disease Foundation (2019). Creating a world free from celiac disease. Retrieved from http://celiac.org
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Mayo Clinic (2019). Celiac disease. Retrieved from https://www.mayoclinic.org/diseases-conditions/celiac disease/symptoms-causes/syc-20352220
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Celiac disease. Retrieved from https://www.niddk.nih.gov/health-information/digestive-diseases/celiac-disease
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