Focus on Coeliac Disease - bit.ly/FocusCD - Interreg CENTRAL EUROPE
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Focus on Coeliac Disease Patient centred coeliac disease management bit.ly/FocusCD
About the Focus IN CD project Innovative patient centred health care services – advan- tages of establishing a close CE network in coeliac disease patient health care. Coeliac disease is a lifelong systemic autoim- Within the project, we will develop E-tools mune disorder, requiring extremely meticu- for healthcare professionals, implement pilot lous dietary treatment. It affects 1-3% of popu- testing on 10 new services and prepare an lation (up to 5 million in CE) of all ages. integrated management model for coeliac disease patients, which can also be applied 80 % percent of people with coeliac disease in other environments, and for other chronic remain undiagnosed or misdiagnosed, and diseases. diagnostic delays reach 10 years in many re- gions. Undiagnosed or untreated disease is Key outputs are Assessment of Coeliac Dis- associated with a number of severe complica- ease management practices; three devel- tions and comorbidities. oped and implemented E-tools: E-learning tool for HCPs for up-to-date management The Focus IN CD project with full name “In- of CD patients, E-learning tool for patients novative patient centred health care services for necessary every-day life of CD patients - advantages of establishing a close CE net- and ICT App for HCPs to help them in eve- work in coeliac disease patient health care” ryday practice. Ten pilot actions will be im- addresses specific issues of coeliac disease plemented and tested to improve skills and management. It focuses on the innovative competences of health care professionals. potential in the public sector, better integra- The project will demonstrate development tion of social innovations into the healthcare and pilot testing of an innovative healthcare system with the objective to bring the system service model in management of coeliac dis- closer to the patient, establishing an inte- ease (CD), which will enable us to develop a grated treatment and ensuring healthy and patient centred health care service. “Policy active ageing of the population. Focus IN CD recommendations” based on patient centred project is supported by the Interreg Central CD management model will include guidance Europe Programme, funded by the European on how to effectively address the challenges regional development Fund. A total budget of of CD management in the framework of exist- the project is approximately 1,900,000€. The ing healthcare systems. implementation started in June 2016 and will end in May 2019. Project partners are Munici- The public sector is a hidden source of vari- pality of Maribor, University Medical Centre ety of innovation potential. Early prevention Maribor, E-institute - Institute for Comprehen- of chronic diseases that have severe impact sive Development Solutions, Klinikum der on general well-being of patients is extremely Ludwig-Maximilians-Universitat Munchen, important if we want to reach this goal and Heim Pal Hospital Budapest, Universita degli ensure sustainable health care systems in CE. Studi di Trieste, Instituto Burlo Garafolo Tri- este, Klinički bolnički centar Rijeka, Udruga oboljelih od celijakije Primorsko – goranske županije Rijeka, Coeliac Association from Budapest, Stiftung Kindergesundheit and Pri- morsko – Goranska županija.
Coeliac Disease Coeliac disease is an autoimmune systemic disorder caused by the ingestion of gluten and related proteins, found in wheat, rye, barley and in some cases also in oats in geneti- cally predisposed individuals. It is one of the most common chronic diseases among children and adults and affects about 1% of the population in Europe. Many of patients re- main undiagnosed. Coeliac disease is a complex disorder strong- improves the clinical picture, normalises the ly associated with HLA DQ2 or DQ8 haplo- level of antibodies and restores the damaged types and specific immunological and envi- intestinal lining. Following a strict diet is also ronmental factors. In coeliac disease patients, the only way to prevent the development of ingestion of gluten triggers a chronic damage serious long-term effects of the disease. The of the small intestine. A consequence of the most significant risk factor for long-term com- morphological changes in the intestinal lining plications is inadequate gluten free diet com- is a weakened function with symptoms of ma- pliance. labsorption. Clinical symptoms characteristic of the disease, such as diarrhoea and mal- The coeliac iceberg is large. Representing 1% absorption syndrome, are not the most com- of total population. However, only a small mon forms of the disease anymore. Atypical proportion of these patients is detected, symptoms and silent forms of the disease are corresponding to the tip of the iceberg. Various becoming more and more frequent. Based on data show that only 10% of patients are detected the clinical picture, coeliac patients can be due to symptoms and signs, whereas 90% can divided into the following two groups: symp- remain undiagnosed for a longer period. tomatic and asymptomatic coeliac disease. The symptomatic coeliac disease can pre- sent with gastrointestinal or extraintestinal symptoms and signs. The term asymptomatic or silent coeliac disease is used to refer to patients who were diagnosed with changes characteristic for coeliac disease, although they seem to be asymptomatic. Diagnosis of coeliac disease is primarily based on the clinical picture. However, the final diagnosis is always based on the pres- ence of a specific reversible immune re- sponse and in majority of patients also on detecting histological changes of the small intestine in genetically predisposed indi- viduals. In some cases, the diagnosis can be made without intestinal biopsy. It is important, that patients do not start with a gluten free The size of the submerged part depends very diet before they receive the final diagnosis. much on patients’ awareness and knowledge of HCPs and availability of reliable diagnostic The only possible way to treat coeliac disease tools. is a very strict lifelong gluten free diet, which
Patients’ stories We were happy that the marathon from one doctor to another had finished The day, when our oldest daughter was di- pointment at the allergist, where we were agnosed with coeliac disease was one of the referred to the gastroenterology depart- happiest days for our family. The diagnosis ment. The diagnosis of coeliac disease was “coeliac disease” was among the suspicions confirmed in 10 days. Our girl, a patient with of doctors for the best and the least harmful coeliac disease on a strict gluten-free diet, is disease. We were happy, that the marathon growing up and is thriving into a healthy and from one doctor to another had finished and happy girl. Soon her sister and father, also that we finally identified what was wrong and coeliac patients, joined her in the gluten- how we can help our daughter. To live and free diet. develop into a healthy and happy woman. Nuša, 11 years, and mom Simona Our daughter’s health problems did not de- velop overnight, as in a rapid deterioration of her health condition. The changes were very gradual, but still not unnoticed. From the early age of two she had weakened im- The condition was staring munity (a hypogammaglobulinaemia) and me in the face, I just didn’t was more prone to infections, this is why she was managed by specialists in an allergy see it outpatient clinic. To avoid diseases, she did I was diagnosed with coeliac disease at the not attend organised care (kindergarten). age of 44. For many years I had numerous Somehow, our happy, but quiet girl, became symptoms typical of coeliac disease. From even more tired and without appetite after unbearable abdominal pain, diarrhoea, con- the treatment of her last infection. After the stant bloating, anaemia, fatigue and infec- consultation with her paediatrician, we did tions all the time. Since I have thirty years a blood count check, which was fine. Prob- insulin-dependent diabetes, this diagnosis lems with diarrhoea, malaise, pain, consti- of coeliac disease should be slightly more pation or vomiting were absent. I visited the expected. The condition was staring me in paediatrician`s office several times a month the face, I just didn’t see it. As I am a pae- with my moody and tired daughter. No one diatrician who knows about the symptoms, thought of coeliac disease, we were not re- I should have got it sorted sooner. In addi- ferred to a specialist – a gastroenterologist. tion, I know some eminent experts, who are As we were blessed with a new family mem- treating the disease in their daily work. A few ber, we thought that maybe it was the lack years earlier, I was traveling to a gastroen- of acceptance of her sibling and also visited terological congress with a colleague expert a psychologist. During the holidays we were in the field of coeliac disease. At the time, hoping for an improvement of her health I suffered severe pain, cramping, bloating, condition, however problems with rapid and diarrhoea - especially when I had eaten weight loss and her general condition was a good breakfast of fresh rolls, but we didn’t very bad. Fortunately we soon had an ap- see the obvious. In defence of my expert
Coelia diseas c e? friend, my coeliac test had been repeatedly reported negative. Afterwards came additional prob- lems. Both my an- kles were swol- len, my anaemia was severe and iron supplements did not help. Then another colleague saved me and made the diagnosis. My serological test were nega- tive before, because I have IgA deficiency as well. Now, I am on a gluten-free diet, I am 15 kg heavi- er than when I started. I feel good, without any medical problems. Al- though it is hard when I pass the bakery and there is a delicious smell of fresh baked bread. In addition, it is hard when I am in the hotel where they have breakfast with 15 types of delicious bread and bread rolls. Fur- thermore, reading labels can be dif- ficult, especially if you need glasses for small print. However, it is worth it. I accepted the diagnosis of coeliac disease relatively easily, because I NO am now accustomed to my chronic condition. This is also because my health is incomparable to that of five years ago. I bake my own gluten free bread. I miss some do- R ! nuts for carnival and Bled cream cake. Nowadays, there is a A better variety of gluten-free products. Unfortunately gluten- FE free products are relatively expensive, which can be a big problem. Igor, 47 years
Diagnostic approach in children and adolescents with symptoms or signs suggesting coeliac disease Child or adolescent with symptoms or signs suggesting coeliac disease antibodies against tTg (IgA) and total serum IgA coeliac t-TG t-TG disease positive negative excluded two possible diagnostic further diagnostics pathways based on the tTG – age < 2 years results and disease history – IgA deficiency – disease history • reduced gluten intake • severe problems tTG > 10x tTG < 10x • immunosuppression • associated diseases normal normal OGD (EGDS) and biopsy EMA and HLA DQ2/DQ8 of the small intestine EMA + EMA + EMA – EMA – Marsh 2 Marsh 0 or 1 HLA + HLA – HLA – HLA + or 3 coeliac false final coeliac coeliac disease negative HLA? false disease diagnosis disease confirmed biopsy of the positive tTG? not possible*: confirmed small intestine – false positive serology? – false positive histology? – further gluten gluten diagnostics free diet, free diet, follow-up follow-up * further evaluation and/ or follow-up needed.
Diagnostic approach in asymptomatic children or adolescents with a higher risk of developing coeliac disease Asymptomatic child or adolescent with a higher risk of developing coeliac disease HLA DQ2/DQ8 (possibly simultaneously tTg (IgA) and total serum IgA) coeliac HLA-DQ2/DQ8 HLA-DQ2/DQ8 disease positive negative excluded repeat periodically, antibodies against tTg (IgA) especially in case of complications and total serum IgA tTG > 3x tTG < 3x tTG normal normal negative EMA consider: OGD (EGDS) and biopsy of the small – restricted intestine gluten intake EMA + EMA – before testing Marsh 2 coeliac Marsh 0 or 1 disease or 3 excluded coeliac final coeliac disease consider: disease diagnosis not – transient/false confirmed possible*: positive tTG – continuation of – continuation of normal diet normal diet – false positive – periodical serology monitoring – false negative gluten histology free diet, follow-up * further evaluation and/ Husby S, et al. J Pediatr or follow-up needed. Gastroenterol Nutr 2012; 54: 136–60
Symptoms diarrhoea apathy constipation headache vomiting joint pain abdominal pain hyperactivity bloating CHILDREN dyspepsia bone pain loose stools infertility/ miscarriage abdominal pain depression irritable bowel ataxia tiredness premature constipation ADULTS menopause Higher risk groups first-degree relatives of coeliac disease patients type 1 diabetes immunoglobulin A deficiency autoimmune thyroiditis Down syndrome Turner syndrome Williams syndrome
Signs malnutrition aphthae failure to thrive delayed puberty abdominal distension oedema short stature rickets anaemia arthritis dental enamel defects CHILDREN hypertransaminasaemia brittle nails peripheral neuropathy abdominal distension malnutrition, weight loss short stature myopathy iron deficiency anaemia hypertransaminasaemia oedema aphthae osteopenia/osteoporosis hair loss ADULTS bone fracture Complications osteoporosis autoimmune diseases YO U RK TE S bit . T ly/c NO WL gynaecological disorders elia c- s u EDG E ABOU r ve y haematological disorders E NG neurological disorders C T E EL S IAC DIS E A psychiatric diseases malignant lymphoma of the small intestine
Glossary anaemia – a condition where the levels of hae- lactose – milk sugar, composed of one glucose moglobin (Hb) in blood are less than normal. molecule and one galactose molecule. Lactose One of the most frequent types of anaemia is intolerance is common in coeliac disease and the iron-deficiency anaemia (iron is required for may disappear completely when a gluten-free Hb synthesis). diet is adopted. antiendomysial antibodies (EMA) – antibod- malabsorption – reduced absorption of nutri- ies (usually lgA class) directed against the en- ents as a consequence of digestive enzymes domysial tissue. These antibodies are usually deficiency or damaged intestinal lining. present in the blood of coeliac disease patients antibodies – protein molecules capable of car- in the active phase of the disease. rying out certain reactions, which usually have antigliadin antibodies (AGA) – antibodies a protective function. (lgA and lgG class) directed against gliadin. antibodies directed against tissue transglu- These antibodies may be present in the blood taminase (anti tTG) – antibodies (usually lgA of coeliac disease patients in the active phase class) directed against the tissue transglutami- of the disease. In comparison to tTG and EMA nase enzyme. These antibodies are usually pre- their specificity is much lower. sent in the blood of coeliac disease patients in villous atrophy – a pathologic defect of the the active phase of the disease. intestinal mucosa. The villi become shorter or villi – anatomical structures in the shape of even completely flattened (in the case of com- “glove-fingers” typical for a normal intestinal plete atrophy). lining. biopsy – removal of a tissue sample in order to serological markers – antibodies, which can examine it in a variety of ways. be detected in blood. Their presence repre- gluten free diet – the only way to treat coeliac sents a valuable diagnostic element in the de- disease. A strict diet involves a complete avoid- tection of coeliac disease. ance of wheat, barley, rye and, in some coeliac HLA system – a complex of genes located on disease patients, even oats. chromosome six, which are responsible for pro- dermatitis herpetiformis – a skin condition tein synthesis. Proteins play a crucial role in the characterised by itchy rash on the skin that immunological reaction. appear on typical locations (e.g. elbows and Higher-risk group – a group of people in the knees). It is one of the possible clinical manifes- community with a higher-than-expected risk tations of coeliac disease. for developing a particular disease, which may lgA – a subclass of antibodies (or immunoglob- be defined on a measurable parameter (e.g. an ulins), found in blood and mucosal secretions. In inherited genetic defect, physical attribute, life- case of lgA deficiency, coeliac disease is more style habit etc.) common. d-GP – deamidated gliadin peptide antibodies intraepithelial lymphocyte – lymphocytes re- (dGP Ab) - antibodies (usually IgA class) direct- sponsible for immunological protection, found ed against deamidated gliadin peptide. These between epithelial cells on the surface of the antibodies are usually present in the blood of intestinal lining. coeliac disease patients in the active phase of the disease.
Additional Information 1. Municipality of Maribor Office of Project Development – Project Office Ulica heroja Staneta 1, 2000 Maribor, SI Jasmina Dolinšek, M.Sc., Focus IN CD, Project Manager firstname.lastname@example.org 2. University medical center Maribor Department of pediatrics Ljubljanska ulica 5, 2000 Maribor, SI Jernej Dolinšek, M.D., Ph.d. email@example.com 3. E-institute - Institute for Comprehensive Development Solutions, Čučkova ulica 5, 2250 Ptuj, SI Anja Prislan firstname.lastname@example.org 4. University hospital center Rijeka, Department of pediatrics Istarska 43, 51000 Rijeka, HR Goran Palčevski email@example.com 5. University of Trieste Department of Life Sciences bit.ly/FocusCD Piazzale Europa 1, 34100 Trieste, IT Daniele Sblattero, Ph.D. firstname.lastname@example.org 6. Association of celiac patients Primorsko - goranska County Drage Gervaisa 52, 51000 Rijeka, HR Marina Milinović email@example.com 7. Institute for Maternal and Child Health - IRCCS »Burlo Garofolo« Pediatric Department Via dell’Istria 65/1, 34100 Trieste, IT Tarcisio Not firstname.lastname@example.org
8. Ludwig-Maximilian’s University Medical Center Dr. von Hauner Children’s Hospital, Division of Paediatric Gastroenterology Lindwurmstraße 4, 80337 München, DE Prof. Dr. Sibylle Koletzko, Head of Div. Pediatric Gastroenterology and Hepatology Dr. von Hauner Children’s Hospital Ludwig Maximilians-University, Munich, Germany email@example.com Katharina Werkstetter, Dr. rer. biol. hum., MSc, MPH, Scientific Project Manager firstname.lastname@example.org 9. Hungarian Coeliac Society Palanta utca 11, Budapest 1025, HU Tunde Koltai email@example.com 10. Heim Pál Children’s Hospital Coeliac Disease Center Üllöi ut 86, 1089 Budapest, HU Ilma R Korponay-Szabo, M.D., Ph.D., D.Sc., Professor of Pediatrics firstname.lastname@example.org 11. Child Health Foundation c/o Dr. von Haunersches Kinderspital Lindwurmstrasse 4, 80337 München, DE Giulia Roggenkamp, M.A., General Secretary email@example.com Berthold Koletzko, Prof. Dr. Dr. h.c. mult. Prof. h.c., Chairman firstname.lastname@example.org 12. Primorje - Gorski Kotar County Department for Health Slogin kula 2/l, 51000 Rijeka, HR Alemka Mirkov email@example.com UNIVERSITÀ DEGLI STUDI DI TRIESTE publisher: Mestna občina Maribor, authors: J. Dolinšek, J. Dolinšek, M. Klemenak, M. Karla, D. Sblattero, M. Milinović, T. Not, K. Werkstetter, T. Koltai, B. Koletzko, S. Koletzko, I. Korponay-Szabo, A. Mirkov, A. Likar Mastnak, T. Krenčnik, J. Gyimesi, S. Kostanjevec, design: Studio 8 This e-brochure will be regurarly updated based on new evidence based guidelines.
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