Coeliac disease. Which of your patients has coeliac disease?
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1 Coeliac disease Which of your patients has coeliac disease?
2 Over the past few decades, coeliac disease has gone from being a rare disease in children, to a public health problem. As head researcher in a number of Swedish studies on coeliac disease, I ve seen this development first hand. Unfortunately, the rate of correct diagnosis and treatment has not kept up at the same pace. Anneli Ivarsson, Associate Professor and consultant at Umeå University and Västerbotten County Council Sweden Most coeliac disease cases are still undiagnosed and the delay between start of symptoms and a correct diagnosis is often many years. However, today the opportunity for early identification of coeliac disease in patients is good. Blood samples for analysis of coeliac disease serological markers and total S-IgA should always be taken at if coeliac disease is suspected in a patient. Also important to emphasise is the fact that a gluten-free diet should never be introduced without first undergoing an examination. Equally important, both the individual and society have much to gain by quickly identifying coeliac disease and supporting patients with a lifelong gluten-free diet. Good luck! 2
3 Coeliac disease An often overlooked disease Coeliac disease is extremely complex. 1 Not all patients who develop the disease display the classic gastrointestinal symptoms which contributes to under-diagnosis and unnecessary distress. The majority never receive the correct diagnosis and treatment. Those diagnosed often spend years seeking answers before receiving the diagnosis. In conjunction with Associate Professor Anneli Ivarsson, M.D., consultant at Umeå University and Västerbotten County Council (a health authority in Northern Sweden), we hope this brochure will increase your awareness and knowledge about coeliac disease. Confirming the diagnosis, in combination with a lifelong commitment to a gluten-free diet, nearly always results in improved quality of life. In addition to these direct benefits, it also means a reduction in the long-term risks associated with untreated coeliac disease. CONTENTS Risks from untreated coeliac disease 4 Prevalence 5 High risk groups 5 Theories about the origins of the disease 6 Age-specifi c symptoms 7 Diagnosis 8 Differential diagnoses 8 Treatment and follow-up 9 3
4 Risks from untreated coeliac disease Coeliac disease affects the entire body. Gastrointestinal symptoms are common but are not always present. Left untreated, the disease often leads to a reduced quality of life. Some common complaints include but are not limited to, fatigue, lack of energy and depression. 2 The disease increases the risk of iron and vitamin deficiencies; however, normal lab values may also occur. In addition, untreated coeliac disease may have a negative effect on fertility in both men and women. 2 Osteoporosis and arthritis can occur as a result of coeliac disease and there is an increased risk for malignant disease in the gastrointestinal tract. 4 Also, other autoimmune disorders are common in those with coeliac disease. In children, untreated disease can negatively affect both growth and development, including a risk of delayed puberty. 5 Coeliac disease affects the entire body The prevalence is greatly underestimated 4
5 Prevalence Coeliac disease is much more common today than in the past and disease onset can strike at any age, from infancy to old age. Most of the screening studies that have been performed indicate that the prevalence of coeliac disease is approximately 1 %, and that the majority of cases are still undiagnosed. 6 8 In Swedish adolescents born during the so-called coeliac disease epidemic, , a prevalence as high as 3 %, of whom two-thirds were 9, 10 undiagnosed, has recently been demonstrated. Coeliac disease is associated with HLA-DQ2 and HLA-DQ8. HLA-DQ2 is present in about 90 % of patients, and the remaining 10 % have HLA-DQ8. 2 These markers are also present in about 30 % of the European population. 2 The majority of those with these markers do not develop coeliac disease. There is a hereditary increased risk (10 %), and females are twice as likely to develop the disease as males. 5 People with the skin disorder, dermatitis herpetiformis, always have accompanying intolerance to gluten. The disease is also more common in people with other autoimmune diseases (e.g. diabetes and thyroid dis orders) and some genetic conditions. 2 Therefore, it is now recommended that these groups should be screened. 3 High risk groups First-degree relatives Dermatitis herpetiformis Diabetes mellitus Thyroid disease Down s syndrome Turner syndrome IgA defi ciency Also consider the possibility of coeliac disease in the following patient groups: Addison s disease Sjögren s syndrome Psoriasis Infl ammatory bowel disease Irritable bowel syndrome (IBS) Chronic liver disease Lactose intolerance* Osteoporosis Infertility Nutritional defi ciency Delayed puberty * People with untreated coeliac disease are often sensitive to dairy products, and symptoms may improve when eliminating lactose. Thus, it is easy to misinterpret the untreated coeliac disease as lactose intolerance. 5
6 Coeliac disease can start at any age Blood sampling is recommended Theories about the origins of coeliac disease 1 Gluten peptides in food are modified to antigenic gluten epitopes. In genetically predisposed persons, these bind to HLA Class-II receptors on the surface of antigenpresenting cells in the gastrointestinal mucosa. These are presented to T-helper cells that activate the cell-mediated immune system. This in turn, causes inflammatory damage to the intestinal mucosa and the successive development of villous atrophy. This greatly reduced area of the gut s mucosal surface contributes to a reduced ability to absorb nutrients. The humoral immunological response is also activated into producing specific antibodies that can be detected in serum. 6
7 Age-specifi c symptoms Contrary to previous beliefs, it is now clearly established that coeliac disease can appear at any age, including in adults and the elderly. 2 The symptom patterns vary by age and from person to person. In children, coeliac disease sometimes manifests with gastrointestinal symptoms, but more subtle symptoms are common. 7 In older children and adults, the symptoms may be both chronic and unspecific. 2 Patients can be underweight, average weight or overweight. 11 If no other explanation suffices as to why an individual does not feel well, blood samples and analysis of sero logical markers for coeliac disease are always recommended. 0 2 years 3 18 years Adults Poor appetite Upset stomach Gastrointestinal problems Stomach ache Diarrhoea and/or constipation Menstrual disorder Vomiting Poor appetite Infertility Diarrhoea Inhibited growth Anaemia Constipation Enamel defects in teeth Weight loss Tiredness and irritability Delayed puberty Enamel defects in teeth Delayed development Anaemia Mood swings Stunted growth Tiredness Tiredness Distended stomach / thin extremities Mood swings Depression If gluten ingestion is reduced, the symptoms likely decrease. However, a strict, lifelong gluten-free diet is the only effective treatment and prevention of possible future complications. However, it is essential, that the patient seeks medical advice in order to establish the correct diagnosis. 7
8 Diagnosis At the slightest suspicion of coeliac disease, a blood sample for analysis of coeliac disease serological markers should be taken. This is a fast and cost- efficient method that benefits both the patient and the healthcare system. The blood test is relatively reliable, but may be falsely positive, and in rare cases, falsely negative. If there is a strong clinical suspicion of coeliac disease, the clinician should proceed with an endo scopy with small bowel biopsy, even if the blood test is negative. Differential diagnoses Irritable bowel syndrome (IBS) Cows milk protein intolerance Lactose intolerance Maintaining a normal diet is important The patient must continue to eat a normal glutencontaining diet during the testing phase to allow for a correct diagnosis to be made. A blood sample provides rapid guidance Transglutaminase antibodies (type IgA) and total serum IgA should always be analysed at the fi rst suspicion of coeliac disease. For infants under 18 months, gliadin antibodies (type IgA) should also be taken. 12 Patients with IgA defi ciency may present with a negative result despite having the disease, and thus the corresponding IgG antibodies should also be analysed. In the event that gluten ingestion has been reduced, the investigation is more diffi cult due to the risk of false negative serological markers. Therefore, the patient should be encouraged to maintain a normal diet (which should include gluten) until the investigation has been completed. Biopsy confirms the diagnosis The standard diagnosic procedure is endoscopy with small bowel biopsy evaluated by an experienced patho logist. Because coeliac disease is currently so common, each endoscopy ordered (regardless of reason), should be accompanied by a request for a small bowel biopsy. It is important for the patient to continue eating a normal diet (containing gluten) until the endoscopy has been completed, otherwise the biopsy may be difficult to evaluate and may present as false negative. The final diagnosis should be based on the symptoms, results from the serological marker tests and the small bowel biopsy. 8
9 Treatment and follow-up Coeliac disease is treated with a strict, lifelong glutenfree diet. Therefore, regular support from a dietician is essential! The physician should explain what happens when one with coeliac disease ingests gluten, but at the same time make clear that someone with coeliac disease can lead quite a normal life. There is a rapidly increasing consciousness concerning the social difficulties that many patients experience with the diet. 13, 14 Regular support from physicians and dieticians is therefore necessary to maximise comfort and dietary compliance. It is important for younger patients to take responsibility for their own diet. One good method for improving compliance is a consultation without the presence of parents or other caregivers. It is also important that others in the child s life are informed, including: the school, after-school activity groups, sports clubs, extended family members, etc. Group meetings with other coeliac patients of the same age are generally positively received, can be extremely helpful and may increase compliance with the gluten-free diet. Transglutaminase antibodies should be checked routinely at follow-up visits. If these are elevated, the diet should be reviewed for possible gluten intake. Patients may sometimes unknowingly ingest gluten. Normal antibodies are no guarantee however, that the diet is 100 % gluten-free. An important source for information and support are Coeliac Societies (visit the Association of European Coeliac Societies online at to find your country s society). The Coeliac Society will provide your patient with dietary advice and details of local support groups and events. Treatment requires a strict lifelong, gluten-free diet Transglutaminase antibodies should be checked at follow-up visits 9
10 References 1. Di Sabatino A et al. Coeliac disease. Lancet 2009;373: Lindgren A et al. Kraftigt ökad celiakiprevelans [Increased prevalence of coeliac disease]. Lakartidningen 2009;106: Sjöberg K et al. Screening för celiaki kan vara motiverad i högriskgrupper [Screening for coeliac disease can be motivated in high risk groups]. Lakartidningen 2004;101: Mearin ML et al. European multi-centre study on coeliac disease and non-hodgkin lymphoma. Eur J Gastroenterol Hepatol 2006;18: Roth B et al. Celiaki som modell för autoimmun sjukdom [Coeliac disease as a model for autoimmune disease]. Lakartidningen 2006;103: Ivarsson A et al. High prevalence of undiagnosed coeliac disease in a adults: a Swedish population-based study. J Int Med 1999;245: Mäki et al. Prevalence of coeliac disease among children in Finland. N Engl J Med 2003;348: Dubé C et al. The prevalence of coeliac disease in average-risk and at-risk Western European populations: a systematic review. Gastroenerology 2005;128: Ivarsson A et al. Epidemic of coeliac disease in Swedish children. Acta Paediatr 2000;89: Myléus A et al. Coeliac disease revealed in 3% of Swedish12-year olds born during the epidemic. J Pediatr Gastroenterol Nutr. 2009;49: Venkatasubramani N et al. Obesity in pediatric coeliac disease. J Pediatr Gastroenterol Nutr. 2010;51: Lagerqvist C et al. Antigliadin Immunoglobulin A Best in Finding coeliac disease in children younger than 18 months of age. J Pediatr Gastroenerol Nutr 2008;47: Hallert C et al. Living with coeliac disease. Controlled study on the burden of illness. Scand J Gastroenterol 2002;37: Olsson C et al. The everyday life of adolescent coeliacs issues of importance for compliance with the gluten-free diet. J Hum Nutr Diet 2008;21:
11 This brochure has been developed by Fria in collaboration with Associate Professor Anneli Ivarsson. At Fria we are committed to raising awareness and knowledge about coeliac disease. We aim to continuously develop our gluten-free bakery products so that people with coeliac disease are able to enjoy the good things in life just like everybody else. For more information, visit Please call us at or 11
12 Coeliac disease Which of your patients has coeliac disease? 2011/06
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