Good Case Study On Celiac Disease Case Study

Introduction

Celiac disease (CD), also known as gluten enteropathy, is a life-long gluten-sensitive autoimmune disorder of the small intestine that affects genetically susceptible people all over the world. The disease is triggered by the consumption of gluten, which is a protein complex, typically found in barley, wheat, and rye. The disease affects the villi of the small intestine, preventing the body from absorbing nutrients, primarily fat, calcium, iron, and folate. In celiac disease, the body begins to attack itself whenever a genetically susceptible person eats gluten. At least 0.6 to 1.0% of the population worldwide is affected by this disease (Fasano and Catassi, 2012). In the USA alone, this disease has affected about 1.8 million people, while 1.4 million people with the symptoms of this disease are unaware of their having it owing to the absence of much knowledge among the public related to the disease (Ludvigsson et al, 2013). There is regional difference in Europe in terms of its prevalence. In Germany, 0.3% people are affected by the disease, while the rate of prevalence in Finland is 2.4% (Fasano and Catassi, 2012). Due to the westernization of diet and an increasing number of people eating more processed wheat products, such as pastas, cereals, and baked goodies, the prevalence of this disease is becoming increasingly common in the developing world too, especially in the Middle East and North Africa. In India, this disease is prevalent mainly in the northwestern part of the country where wheat is a staple food (Fasano and Catassi, 2012). Since a majority of people with celiac disease remain undiagnosed, it has become important for people to develop an awareness related to the disease so that measures can be taken to address the problem. This paper would discuss Celiac disease in greater detail, touching upon its physiology, signs and symptoms, progression trajectory, diagnosis, and treatment options.

Pathophysiology

Gluten is a protein found in wheat, barley, rye and oat. It is a composite of prolamin and glutelin. Prolamins are mainly responsible for causing immune reaction in celiac patients in most of the cases. Prolamins found in many grains, including wheat (gliadin), barley (hordein), corn (zein), and rye (secalin). Prolamins also exist as a minor protein in oats (avenin) (Gujral, Freeman and Thomson, 2012). Normally, the immune system of the body is designed in such a way that it protects the body against foreign invasions, but when people suffering from celiac disease eat anything containing gluten; their bodies form antibodies against gluten, leading to a damaging effect on the intestinal lining. Gliadin peptides, which derive from gluten consumption, damage the small intestine because they are resistant to gastrointestinal enzymes, have amino acid sequences specific for HLA-DQ2, which is a class II major histocompatibility complex, and have glutamine residues for tissue transglutaminase (tTG)-mediated deamidation (Gujral, Freeman and Thomson, 2012). The damaging effect on the intestinal lining contributes to an inflammation in the gastrointestinal tract that affects the villi, small finger-shaped projections on the lining of the small intestine, thereby damaging the intestinal permeability. Thus, celiac disease shrinks the villi resulting in poor absorption of nutrients, diarrhea and the consequent weight loss and malnourished health condition.
The pathogenesis of celiac disease depends on genetic and environmental factors. The environmental factor is contributed mainly by the ingestion of gluten, while genes play a strong role in celiac disease, especially its prevalence rate being high among twins. Celiac is mainly a genetic disorder, and the chances of this order is 17.6% among sisters, 10.8% among brothers, and 3.4% in parents. People with celiac disease are the carriers of either one or both of the two genes, HLA-DQ2 and HLA-DQ8. The consumption of gluten reacts abnormally with these genes, triggering an abnormal immune response that leads to the damage of the small intestine. The majority of celiac patients, about 95%, have the HLA-DQ2 gene, whereas 5% people have the DQ8 gene. Apart from genetic predisposition and environmental trigger, celiac is also found to be linked with viral infections, tissue damage, early termination of breastfeeding and gender. Several studies have shown that infections with hepatitis C virus, Adenovirus type 12, hepatitis C virus, Campylobacter jejuni, Rotavirus, Giardia lamblia and Enterovirus infection trigger the development of celiac disease.

Signs and Symptoms

Individuals suffering from celiac disease showcase either gastrointestinal symptoms, extra-intestinal symptoms, or no symptom at all. The common symptoms of celiac are usally gastrointestinal, such as diarrhea, abdominal cramp, steatorrhea, bloating, and weight loss due to malabsorption (Gujral, Freeman and Thomson, 2012). The most common symptom of celiac is the intermittent diarrhea. Though about half of the individuals diagnosed with celiac suffer from diarrhea, there are some people who suffer from constipation rather than diarrhea. Excessive gas, abdominal cramps, and flatulence are some of the common gastrointestinal symptoms of this disease. Abdominal bloating to the extent of appearing 6 months pregnant is also another sign of celiac. Lactose intolerance, nausea, vomiting, heartburn and reflux are also gastrointestinal symptoms of celiac (Reilly and Green, 2012).
About half of the patients diagnosed with celiac disease show extraintestinal or atypical symptoms, including anemia, dermatitis herpetiformis, osteoporosis, dental enamel hypoplasia, and neurological problems (Gujral, Freeman and Thomson, 2012). Fatigue, attention deficit hyperactivity disorder (ADHD), insomnia, migraine headaches, seizures, and sleep disorder are some of the common atypical symptoms associated with celiac disease. Peripheral neuropathy in which a patient goes through the experience of an increasing numbness and gluten ataxia, a loss of balance and coordination are a few common neurological symptoms of celiac disease (Gujral, Freeman and Thomson, 2012). Restless leg syndrome is another common neurological symptom of celiac disease with 31% patients reported to be suffering from it (Reilly and Green, 2012).
Dermatitis herpetiformis (DH), which is a severe skin rash, is often found in people with celiac disease. Patients typically develop sensitive itchy skin with chronic appearance of rashes on different parts of their body, including elbows, neck, back, knees, and buttocks. Aphthous ulcers in which many types of sores surface in any area of the mouth like lips, inner cheeks, tongue, gums, and palate are another common symptom of celiac disease (Reilly and Green, 2012). Discolored teeth, depression, irritability, and even infertility are also found to be associated with celiac disease.

Progression Trajectory of Celiac Disease

Although celiac disease can be diagnosed at any time of life, it mostly surfaces in early childhood between 9 and 24 months or in the third of fourth decade of one's life (Gujral, Freeman and Thomson, 2012). Celiac disease mainly manifests in childhood with severe symptoms of abdominal cramps, chronic diarrhea and malnutrition. Celiac is a life-long disorder, and therefore, children affected by this disease do not grow out of it and may show symptoms even at an adult age. If left untreated, this disease can cause increased morbidity and even mortality (Gujral, Freeman and Thomson, 2012). The symptoms of the disease among children and adults vary. Children affected by the disease usually show classical symptoms like diarrhea, abdominal distention and malnutrition. Sometimes, children affected by the disease do not show any symptom at all until adulthood. The major common symptom of the disease among adults is also diarrhea, but adults show atypical symptoms like osteoporosis, anemia and iron deficiency, villous atrophy, dermatitis herpetiformis, bloating, and chronic fatigue (Reilly and Green, 2012).
Studies show that the prevalence of the disease among both children and adults in the USA and Europe put together is 1% of the population (Reilly and Green, 2012). The prevalence of the disease is mainly found in Caucasians, though the presence of celiac has also been traced among people of Amerindian heritage in Chile. A Canadian study also revealed the prevalence of the disease among patients of Asian origin. Though compared to the rest of the world, the disease is typically rare in people of Central Africa; it is commonly traced in African Americans staying in the USA and those of Caribbean nations (Reilly and Green, 2012). The incidence of celiac disease is increasingly growing in the Middle East and North Africa. Especially Saharawi children of North Africa report the highest number of celiac cases.
Gender wise, females are diagnosed two to three times more than men with celiac disease, except the young and elderly population where the prevalence rate is equal among both the genders. Age is also related to the prevalence of the disease. The diagnosis rate of celiac disease is four to fivefold high among people aged over 50 years (Reilly and Green, 2012).

Diagnostic Testing

One of the biggest problems with celiac disease is that a huge number of people with celiac are undiagnosed. Most of the common symptoms of celiac are easily confused with other diseases. The symptoms of recurrent diarrhea, malabsorption, malnutrition, and abdominal bloating are also produced in pancreatic inefficiency, small intestinal overgrowth of bacteria and Crohn's disease of the small intestine (Rubio-Tapia et al, 2013). Therefore, unless properly tested, it is easy to confuse celiac with other disease, resulting in wrong diagnosis. Besides, many people do not show any symptoms of the disease at all, which again adds to the problem of diagnosis.
Small-intestinal biopsy has been instrumental for confirming the diagnosis of celiac. Traditionally, the diagnosis of celiac involves three intestinal biopsies, a biopsy on a gluten-containing diet, a biopsy after a period of gluten free diet, and a biopsy after a gluten challenge. Active case-finding or serologic testing is also a favored strategy for detecting celiac (Rubio-Tapia et al, 2013). Though serological tests have facilitated the identification and diagnosis of celiac disease for many patients, this test alone is not 100% successful for diagnosing patients with celiac, and therefore, a combination of tests, including laboratory tests, biopsies, and serological tests must be conducted to reach an accuracy in the diagnosis.
At present, there is no consensus as to which of the laboratory abnormalities, symptoms, and associated diseases require assessment for CD. Therefore, a set of recommendations for correct and increased diagnosis of the disease has been suggested by the researchers. Firstly, patients showing symptoms of chronic diarrhea, bloating, abdominal cramps, and malabsorption should be blood tested for celiac. Patients with a family history of celiac disease or with a first-degree family suffering from the disease should be tested for celiac if the symptoms and signs match with that of celiac. Also, asymptomatic relatives with a first-degree family member of confirmed celiac must be tested for the disease (Rubio-Tapia et al, 2013).

Treatment Options

The only treatment option available for celiac disease is a gluten free diet. Though the severity of the disease varies among patients with some patients being able to digest a small portion of gluten and some experiencing recurrent diarrhea even with the consumption of a paltry amount of gluten, the treatment option for all kinds of patients is the total avoidance of any product containing gluten for life (Rubio-Tapia et al, 2013). Any food item with gluten should be avoided at all costs by celiac patients. Food items made from barley, wheat and rye, such as breads, cereals, cakes, cookies, pies, gravies, and crackers must be avoided. Many processed food products contain wheat flour, and hence, processed food products like canned soup, salad dressing, yogurt, ice cream, instant coffee, and canned meats too should be shunned (Dewar et al, 2012). Since many patients with celiac disease have intolerance for lactose consumption, they should avoid milk and dairy products too. Celiac patients are recommended to always read the labels on food products carefully to ensure that the products are gluten free.

Differentiation of the Disorder

For an effective treatment, it is very important to differentiate the disorder from other diseases with common symptoms. Gluten sensitivity is not sufficient to conclude the existence of celiac disease in an individual. It is important to consider the differential diagnosis to identify celiac from non-celiac gluten sensitivity. Symptoms are often fairly similar for celiac and non-celiac gluten sensitivity. To differentiate celiac, celiac serology and small intestine histology should be conducted when the patient is in a gluten free diet regime. HLA-DQ test is required to rule out celiac (if negative) and differentiate between the two. A test for non-celiac gluten sensitivity should only be carried out after excluding the possibility of celiac.
Presently, the knowledge of non-celiac gluten sensitivity is at a very basic level among medical community. However, unlike celiac, non-celiac gluten sensitivity has a weak association with heredity. It is also not associated with malabsorption, nutritional deficiencies, intestinal malignancy or auto immune disorder. Given the major differences, it is important to advise patients regarding the ongoing disease monitoring.

Physical and Psychological Demands on the Patient and Family

Celiac disease, if remains untreated, can potentially disrupt the life of the patient and his or her family. The recurrent bowel problem accompanied by several other discomforts can impede the normal functioning of the patient. Besides, various neurological problems including chronic fatigue, sleep disorder, depression, loss of balance, and coordination may affect the life of the patient in such a way that his or her career as well as relationships might come under stress. The patients and the family members might get affected financially as the undiagnosis of celiac may result in recurrent visit to the clinics, laboratory tests, and a number of treatment procedures if the condition does not improve. Women who have developed infertility owing to celiac disease may suffer from depression, and their marital life may become stressful. The constant irritability and psychological problems resulting out of the physical discomfort of recurrent diarrhea and malnutrition can be a cause of stress to the patients as well as their families. The children whose parent is diagnosed with celiac may miss out on a normal childhood due to the parent's constant mood swings and physical problems. The children with celiac disease may suffer from low self-esteem and depression due to their constant sickness and bowel problems. The recurrent sickness of children may add to the growing stress and anxiety for parents.

Key Concepts

A patient with celiac disease often finds it difficult to cope with the huge change required in his or her dietary behavior. Often it is not always possible for the patient to adopt the change without the help of family members and caregivers. Family members should know a few key facts that will help them achieve optimal results. Family members should first understand that changing the diet is not only a physical process; it is also a huge psychological change for the patient. If the caregivers begin to acknowledge this fact, they will start accommodating the patient in a better way.
Family members should expect that the patient may show huge cravings for high gluten diets like pasta, bread, cereal and cake. This craving, when not fulfilled, can lead to irritability. The patients may also experience anxiety, palpitation and shortness of breath. Family members should deal with the patient with patience, providing emotional and psychological support.
Family members are also encouraged to make positive changes around the house. Kitchen should be kept in such a way that cross contamination between gluten free and gluten containing foods do not happen. Buying separate toaster and other cooking utensils are also encouraged. Family members and caregivers should think about all the items in the house and make adjustment according to the need of the patient. It is also important for family members to understand that one cannot always be controlling. It is important to make the patient understand his or her condition and take responsibility.

Interpret Facilitators and Barriers to Celiac Disease Management

Gluten free diet is the only available treatment for celiac. There are many different gluten free diet charts and diet plans available for the patient. Depending on the choice of the patient and wide availability of gluten free food, it is often possible to put the patient on a diet plan which he or she actually likes.
However, often gluten free diet requires complete cut down on foods like pasta, most of the cereals, cake and bread. It is not always easy for a large part of the celiac patients to do it on their own. The major barrier is not to prepare a gluten free diet plan, but the adherence to it. Many patients fail to follow a strict gluten free diet plan as this means they are stripped of their main foods they love like cakes, pizza or pasta. Family support and proper emotional and psychological counseling can help in most of the cases.

Conclusion

Celiac is one of the most common diseases in the world. In the USA alone, almost 1% of the population has celiac. Celiac is triggered by anything that contains the protein called gluten. In patients genetically susceptible to gluten, any food product containing gluten triggers the body immunity system to form antibodies against gluten. Because of these antibodies, any food containing gluten is rejected inside the small intestine causing inflammation of the intestine and hair line structures on the lining of small intestine. It also damages the villi, preventing the absorption of nutrients into the body. Weight loss, diarrhea, severe skin rash, anemia, abdominal cramps, seizures and growth problems are some of the symptoms of celiac disease. The only available treatment of celiac is gluten free diet. This means that often the patients are not allowed to eat foods like bread, cake, pasta and some other high fiber diets. Because of a wide availability of gluten free food, it is often easy for the celiac patient to enjoy a well-balanced diet. However, many patients, when asked to change their diet plan, experience huge physical and psychological challenges. It is important for the caregivers and family members to understand that the celiac patient needs emotional support from them while going through the transition phase.

References

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Reilly, N., and Green, P. (2012). Epidemiology and clinical presentations of celiac disease. Semin Immunopathol. 34(4), 473-478. doi:10.1007/s00281-012-0311-2
Rubio-Tapia, A., Hill, I., Kelly, C., Calderwood, A., and Murray, J. (2013). ACG Clinical Guidelines: Diagnosis and Management of Celiac Disease. The American Journal Of Gastroenterology, 108(5), 656-676. doi:10.1038/ajg.2013.79
Ludvigsson, J., Rubio-Tapia, A., van Dyke, C., Melton, L., Zinsmeister, A., Lahr, B., and Murray, J. (2013). Increasing Incidence of Celiac Disease in a North American Population. The American Journal Of Gastroenterology, 108(5), 818-824. doi:10.1038/ajg.2013.60
Dewar, D.; Donnelly, S.C.; McLaughlin, S.D.; Johnson, M. W.; Ellis, H. J. and Ciclitira, P. J. (2012). Celiac disease: Management of persistent symptoms in patients on a gluten-free diet. World J Gastroenterol. 28 (12), 1348-1356. doi:10.3748/wjg.v18.i12.1348