Living with a Chronic Disease – The Story of Ankylosing Spondylitis Blathín Casey Éadaoin O’Hanlon Máire Curran Michael Costello Stella McGlennon Patricia Pond Preface This booklet aims to provide information on Ankylosing Spondylitis. It is not intended as a stand- alone reference nor is its purpose to provide information on all rheumatological conditions. However, further reading, and links to educational resources are provided to aid your further learning. Contents Table Living with a Chronic Disease - The Story of Ankylosing Spondylitis….……………………..…..1 Section 1 Background to AS…………………………………………………………………………..4 1.1 What is Ankylosing Spondylitis (AS)? .......................................................................................... 4 1.2 Pathophysiology .............................................................................................................................. 4 1.3 Prevalence:....................................................................................................................................... 7 1.4 Signs and Symptoms..…………………………………………………………………..…………8 1.5 Clinical Features of AS ................................................................................................................... 9 1.6 Screening and Diagnosis of AS: ................................................................................................... 12 1.7 Differential Diagnosis ................................................................................................................... 14 1.8 Prognosis:....................................................................................................................................... 15 1.9 Comorbidities & Complications in AS patients ......................................................................... 16 1.10 Outcome Measures for Assessment of AS ................................................................................. 25 1.11 Imaging ........................................................................................................................................ 31 1.12 Laboratory Investigations .......................................................................................................... 33 Section 2 Management………...……………………………………………………………………..35 2.1 Medical Management…………………………………………………………….……………...35 2.2 Surgical Management………………………...…………………………………………………44 2.3 The Multidisciplinary Team ........................................................................................................ 53 2.4 Physiotherapy Management in Ankylosing Spondylitis…………………………………...….61 2.4.1 Exercise Prescription in Ankylosing Spondylitis…………………………………………….62 2.4.2 Posture: ....................................................................................................................................... 64 2.4.3 Aerobic Exercise ......................................................................................................................... 65 2.4.4 Strengthening Exercise: ............................................................................................................. 67 2.4.5 Flexibility Exercise ..................................................................................................................... 69 2.4.6 Respiratory Exercises ................................................................................................................ 71 2.4.7 Spa Therapy ............................................................................................................................... 73 2.4.8 Other Exercise Modalities ......................................................................................................... 77 2 Section 3 Considerations For Physiotherapy Management ............................................................ 82 3.1 Fatigue…………………….………………………………………………………………………82 3.2 Flares……………………………………………………………………………………………...86 3.3 Joint Protection…………………………………………………………………………………..88 3.4 Patient Compliance ....................................................................................................................... 91 3.5 Self-Management .......................................................................................................................... 93 3.6 Activities of Daily Living .............................................................................................................. 99 3.7 Driving…………………………………………………………………………………………..102 3.8 Work & Employment in Ankylosing Spondylitis…………………………………………….103 3.9 Sexual Activity ............................................................................................................................. 109 3.10 Relationships…………………………………………………………………………………..112 3.11 Parenting .................................................................................................................................... 113 3.12 Self-Esteem ................................................................................................................................ 115 3.13 Depression .................................................................................................................................. 116 3.14 Impact of Diagnosis...………………………………………………………………………….117 3.15 Service Provision – AS & FM .................................................................................................. 120 3.16 Resources For Physiotherapists And Patients ........................................................................ 123 3.17 Fibromyalgia Syndrome (FMS)……………………………………………………………. 124 References…………………………………………………………………………………………..132 3 Section 1 Background to AS 1.1 What is Ankylosing Spondylitis (AS)? Ankylosing spondylitis is a complex, and systemic inflammatory rheumatic disease mainly affecting the axial skeleton, with the potential to cause severe debilitation (Khan 2003). Fibrosis and ossification of tendon, ligament and capsule insertion at the area of intervertebral and sacroiliac discs are the main characteristics of AS (Hakim and Clunie 2002). 1.2 Pathophysiology The pathophysiology of AS remains largely unknown. Despite developments into the understanding of this area, it is not possible to link them into a unified theory on pathophysiology; however, it is believed AS is influenced by genetic, environmental and immunologic factors (White 2012). It is estimated that approximately 90% of the risk of developing AS is related to genetic makeup. Human leucocyte antigen (HLA) B27 and AS show the strongest association of all 4 rheumatic diseases linked to genetic markers (Pham et al 2008). A recent meta-analysis of linkage studies stated that the strongest link occurred with the major histocompatability complex (MHC) region on the short arm of chromosome 6 (Carter et al 2007). Interaction between HLA-B27 and the T-cell response has been cited as a key factor in the pathogenesis of ankylosing spondylitis (AS) (Sieper 2009). Tumor necrosis factor (TNF)-α and interleukin 1 (IL-1) are thought to play a role in the inflammatory reactions observed with the disease (Gorman 2002). Increased T-cell and macrophage concentrations as well as enhanced expression of pro-inflammatory cytokines, including TNF-α, are characteristic findings. The inflammatory reactions are responsible for distinguishing characteristics of the disease. This includes the enthesis, which is the site of major histologic changes. This begins with a destructive enthesopathy followed by a healing process with new bone formation, linking deeper bone to the ligament and ultimately resulting in bony ankylosis. Typically, vertebral changes begin with an erosive lesion at the anterior annulus fibrosis. The healing process results in increased bone formation, which is initially laid down as cancellous bone, which is then remodeled into mature lamellar bone creating the typical syndesmophytes that are seen on radiography of the spine (White 2012). Research demonstrates there may be a link between AS and a specific bacterial agent Klebsiella, which has an established relationship to HLA-B27. There may be a role for this agent in initiating or maintaining disease activity (Rashid and Ebringer 2007). Glossary of Terms: HLA-B27 (Human Leukocyte antigen- B27): Proteins on the surface of leukocytes and other nucleated cells. These proteins help the body’s immune system to recognise its own cells and to differentiate between its own cells and foreign substances. TNF- α (Tumor Necrosis Factor- alpha): It is a cytokine involved in systemic inflammation. It stimulates and activates the immune system. It can induce inflammation to promote recovery. 5 IL-1 (Interleukin 1): Responsible for the production of inflammation, and for the promotion of fever and sepsis. It plays a central role in the regulation of the immune responses. Klebsiella: Gram negative bacteria which can cause infections. Major Histocompatability Complex (MHC): A cluster of genes located on chromosome 6 concerned with antigen production and critical to the success of transplantation. The MHC includes the human leukocyte antigen (HLA) genes. Enthesitis Enthesitis involves inflammation of ligaments, tendons and joint capsules at the point of their insertion to the bone. Enthesitis is a principal feature of the spondyloarthropathies and is considered to be a primary clinical feature of AS (Aydin et al 2009). Research has proposed that the primary site of immunopathology is the entheseal fibrocartilage and also the cartilage in general at the interphase with bone (Sieper et al 2002). The Maastricht