CLINICAL AND MOLECULAR ADVANCES IN ANKYLOSING SPONDYLITIS pptx

CLINICAL AND MOLECULAR ADVANCES IN ANKYLOSING SPONDYLITIS Edited by Jacome Bruges-Armas Clinical and Molecular Advances in Ankylosing Spondylitis Edited by Jacome Bruges-Armas Published by InTech Janeza Trdine 9, 51000 Rijeka, Croatia Copyright © 2012 InTech All chapters are Open Access distributed under the Creative Commons Attribution 3.0 license, which allows users to download, copy and build upon published articles even for commercial purposes, as long as the author and publisher are properly credited, which ensures maximum dissemination and a wider impact of our publications. After this work has been published by InTech, authors have the right to republish it, in whole or part, in any publication of which they are the author, and to make other personal use of the work. Any republication, referencing or personal use of the work must explicitly identify the original source. As for readers, this license allows users to download, copy and build upon published chapters even for commercial purposes, as long as the author and publisher are properly credited, which ensures maximum dissemination and a wider impact of our publications. Notice Statements and opinions expressed in the chapters are these of the individual contributors and not necessarily those of the editors or publisher. No responsibility is accepted for the accuracy of information contained in the published chapters. The publisher assumes no responsibility for any damage or injury to persons or property arising out of the use of any materials, instructions, methods or ideas contained in the book. Publishing Process Manager Ivana Zec Technical Editor Teodora Smiljanic Cover Designer InTech Design Team First published February, 2012 Printed in Croatia A free online edition of this book is available at www.intechopen.com Additional hard copies can be obtained from orders@intechweb.org Clinical and Molecular Advances in Ankylosing Spondylitis, Edited by Jacome Bruges-Armas p. cm. ISBN 978-953-51-0137-6 Contents Preface IX Part 1 Clinical Manifestations, Bone Density Measurements and Axial Fractures Treatment 1 Chapter 1 Clinical Features of Ankylosing Spondylitis 3 Jeanette Wolf Chapter 2 Ankylosing Apondylitis of Temporomandibular Joint (TMJ) 15 Raveendra Manemi, Rooprashmi Kenchangoudar and Peter Revington Chapter 3 Bone Mineral Density Changes in Patients with Spondyloarthropathies 27 Lina Vencevičienė, Rimantas Vencevičius and Irena Butrimienė Chapter 4 Surgical Treatment After Spinal Trauma in Patients with Ankylosing Spondylitis 55 Stamatios A. Papadakis, Konstantinos Kateros, Spyridon Galanakos, George Machairas, Pavlos Katonis and George Sapkas Part 2 HLA and Non-MHC Genes, Immune Response, and Gene Expression Studies 71 Chapter 5 HLA-B27 and Ankylosing Spondylitis 73 Wen-Chan Tsai Chapter 6 Humoral Immune Response to Salmonella Antigens and Polymorphisms in Receptors for the Fc of IgG in Patients with Ankylosing Spondylitis 85 Ma. de Jesús Durán-Avelar, Norberto Vibanco-Pérez, Angélica N. Rodríguez-Ocampo, Juan Manuel Agraz-Cibrian, Salvador Peña-Virgen and José Francisco Zambrano-Zaragoza VI Contents Chapter 7 Genetics in Ankylosing Spondylitis – Beyond HLA-B*27 Bruno Filipe Bettencourt, Iris Foroni, Ana Rita Couto, Manuela Lima and Jácome Bruges-Armas Chapter 8 Lessons from Genomic Profiling in AS 135 Fernando M. Pimentel-Santos, Jaime C. Branco and Gethin Thomas Preface Ankylosing Spondylitis (AS) was first described possibly at the end of the XVII century by Buckley (1931) and Connor, but it was only recognized after the radiologic descriptions of Bechterew, Strumpell and Marie, during the XIX century. In 1964 the American Rheumatism Association classified AS as a distinct disease. About forty years ago (1973), Schlosstein and Brewerton published simultaneously but independently the association of AS with the Class I allele B*27. Since then, AS has been the target of intense research and an enormous amount of information has been gathered about this disease. Now it is known that AS is one of a group of several diseases known as Spondyloarthritis (SpA): AS, reactive arthritis, unspecified spondyloarthritis, psoriatic arthritis, and entheropathic arthritis. Also, during the last ten years research has been focused on the understanding of the molecular and cellular processes involved in AS pathogenesis. Genome Wide Association Studies (GWAS) were followed by other studies using candidate genes which allowed the identification of non-HLA genes associated with AS susceptibility. The more detailed knowledge of the molecular and cellular mechanisms, and the identification of biomarkers and their signaling pathways, contributed to the development of anti-TNFα and anti-IL6 molecules which are highly effective in the treatment of AS. These drugs radically changed the treatment of SpA and improved significantly the quality of life of the patients. With the deeper knowledge of the cellular mechanisms of AS, further therapeutic improvements will follow. In this book, we have tried through original research and revised chapters, to update the clinical and molecular knowledge of AS and SpA. The chapters in the first section, “Clinical Manifestations, Bone Density Measurements and Axial Fractures Treatment”, cover general and more specific clinical aspects of SpA. Spinal and axial joints are affected in AS, but the hallmark of this disease is the axial aggression, sometimes restricted to the sacroiliac joint, better characterized in the early stages by MRI. Peripheral joints may be involved in 30% of cases, and the earlier X Preface involvement of these joints may be an indicator of a more aggressive disease. Extra- articular manifestations are quite common in AS, namely enthesitis, acute anterior uveitis (AUU), cardiac involvement, pulmonary fibrosis, and secondary renal amyloidosis. Psoriatic arthritis has several subgroups and the sub-classification of this disease may be difficult even for the rheumatologist. Up to 50% of AS patients may have gut inflammation when examined by colonoscopy, and SpA may be found in 1- 12% of patients with Crohn`s Disease and Ulcerative Colitis, with higher incidence of peripheral arthritis; sacroiliitis may occur asymptomatic or with typical symptoms. Reactive arthritis tends to be more aggressive and as a longer duration in HLA-B*27 positive cases (50%). Asymmetrical acute peripheral arthritis, enthesitis, acute sacroiliitis, urogenital inflammation, and ocular manifestations are common and may last several months to two years. The importance of clinical measurements to evaluate pain, morning stiffness, and functional ability is well evaluated with the BASDAI and BASFI questionnaires. Several measurements may be used by the clinician, to check and control spinal function and flexibility. The chapter on the incidence, clinical features, pathophysiology, signs, symptoms, and current management of the Temporomandibular Joint (TMJ), reviews how AS affects this joint. TMJ is involved in 4% to 32% of cases, and ranges from mild disease to ankylosis which is exceptional. The non-surgical treatment of TMJ in AS is the most effective way of managing over 80% of patients. Non-pharmacological treatment includes fabrication of intra oral splints, physiotherapy, and patient education. The pharmacological treatment includes NSAIDS, Coxibs, corticosteroids, and anti-TNF agents. The surgical treatment – injection of steroids, joint lavage and total joint replacement -, is indicated in patients with marked trismus, or in cases of the failure of other non-surgical therapies. The third chapter in this section is dedicated to bone mineral density (BMD) changes in patients with SpA. BMD has been investigated mainly in patients with AS. The authors investigated BMD changes in AS and in other diseases belonging to the SpA group – ReA (Reactive Arthritis), PsA (Psoriatic Arthritis), EnA (Entheropathic Arthritis) - to assess the relationship between changes in BMD and specific disease- related variables like duration, physical disability and immobility, activity of the disease, and medications. The results were also compared with a group of patients with Rheumatoid Arthritis (RA) and healthy people. Several conclusions were obtained but possibly the most relevant are: 1) BMD was identical between patients with SpA and RA; 2) Similar changes were found in patients from the various SpA groups. The fourth and last chapter in this section is dedicated to surgical treatment in patients with AS. Patients with AS may undergo a fracture with minimal or no history of trauma, and the fracture should be considered as a high-risk injury. New back pain in AS patients should be assumed to be caused by a fracture until proven otherwise. The cervical spine is the most frequent fracture site (75%, C6-C7 and C7-D1) because the [...]... renal involvement is rather uncommon in ankylosing spondylitis Renal amyloidosis may occur in patients with long disease duration (Nabokov AV, Shabunin MA, Smirnov AV) Due to chronic pain, patients with ankylosing spondylitis often depend upon painkillers Especially non-steroidal anti-inflammatory drugs (NSAIDs) are prescribed, as these agents 8 Clinical and Molecular Advances in Ankylosing Spondylitis. .. each joint into two The lower joint compartment formed by the mandible and the articular disc is involved in rotational 16 Clinical and Molecular Advances in Ankylosing Spondylitis movement—this is the initial movement of the jaw when the mouth opens The upper joint compartment formed by the articular disk and the temporal bone is involved in translational movement—this is the secondary gliding motion... I sincerely hope that this volume Clinical and Molecular Advances in Ankylosing Spondylitis may help to clarify some aspects of the disease contributing to a better understanding of AS pathogenesis Dr Jacome Bruges-Armas Hospital of the Holy Spirit, The Azores, Portugal XIII Part 1 Clinical Manifestations, Bone Density Measurements and Axial Fractures Treatment 1 Clinical Features of Ankylosing Spondylitis. .. H: Clinical assessment of spinal mobility measurements in ankylosing spondylis: a compact set for follow-up and trials? Clin Rheumatol 2000; 19: 131-137 Wanders A, Van der Heijde D, Landewe R et al: Nonsteroidal antiinflammatory drugs reduce radiographic progression in patients with ankylosing spondylitis: a randomized clinical trial Arthritis Rheum 2005: 52(6): 1756-1765 Wolf J, Fasching P: Ankylosing. .. patting it gently with one fist, starting at the cervical spine all the way down to the sacrum, asking the patient, if and which part of the spine is painful during this examination The disease is caused by chronic inflammation of the spinal joints and entheses, proliferative synovitis and central cartilage fusion, which can lead to total destruction and ankylosis of 4 Clinical and Molecular Advances in. .. disease progresses Clicking or popping in the TMJ Tenderness to palpation of the TMJ 5 Diagnosis This problem is diagnosed through a combination of clinical history, examination, imaging and the finding of HLA-B27 in the blood Ankylosing Apondylitis of Temporomandibular Joint (TMJ) 19 Fig 5 Radiographic findings in TMJ depend on the etiology, in cases of AS, rheumatoid arthritis and seronegative spondyloarthropathies,... of arthritis, making it even more difficult to find the right diagnosis The transition between these two diseases is gradual and can differ greatly between two individuals Some patients show definite signs and symptoms of ankylosing spondylitis with only marginal involvement of the skin and peripheral joints, others mainly present skin and joint affections with only little back pain In these cases,... Fig 2 Bamboo stick Clinical and Molecular Advances in Ankylosing Spondylitis Clinical Features of Ankylosing Spondylitis 7 Fig 3 Ankylosis caused by sacroiliits Up to 40% of all patients suffer from acute anterior uveitis at least once in their lifetime (Rosenbaum JT) Uveitis occurs usually unilateral, symptoms include pain, redness, reduced sight, photophobia, grittiness, myosis and increased lacrimation... endpoints in ankylosing spondylitis Assessments in Ankylosing Spondylitis Working Group J Rheumatol 1997; 24: 2225-2229 Van der Linden SM, Valkenburg HA, De Jongh BM, Cats A: The risk of developing ankylosing spondylitis in HLA-B27 positive individuals A comparison of relatives of spondylitis patients with the general population Arthritis Rheum 1984: 27: 241249 Viitanen JV, Heikkila S, Kokko ML, Kautiainen... the spine and loss of lordosis of the lumbal spine, finally making it impossible for the patient to bend any part of his spine Inflammation can also be found in the intervertebral disks resulting in discitis and spondylitis, which can be seen as narrowing of the intervertebral space and destruction of the adjacent cover plates Seldom synovitis and osteitis can be found in the atlantoaxial area leading . CLINICAL AND MOLECULAR ADVANCES IN ANKYLOSING SPONDYLITIS Edited by Jacome Bruges-Armas Clinical and Molecular Advances in Ankylosing Spondylitis Edited. free online edition of this book is available at www.intechopen.com Additional hard copies can be obtained from orders@intechweb.org Clinical and Molecular Advances in Ankylosing Spondylitis, . textbook. I sincerely hope that this volume Clinical and Molecular Advances in Ankylosing Spondylitis may help to clarify some aspects of the disease contributing to a better understanding of AS