Spondyloarthropathies John Imboden MD

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Presentation transcript:

Spondyloarthropathies John Imboden MD

23 y.o. woman with low back pain 9 years of low back pain Spontaneous, insidious onset at age 14 persistent, dull, non-radiating improved by mild-moderate activity made worse by inactivity associated with AM stiffness for >3 hours Episode of “eye inflammation” age 12 Family History: Unremarkable Social History: Full-time college student

23 y.o. woman with low back pain On examination: decreased range of motion of her lumbar spine and decreased chest expansion She has had some relief with NSAIDs but now her back pain is so severe she has had to cut back on her course load and is uncertain whether she can continue college. She has seen multiple physicians in the past 9 years but none has been able to make a diagnosis. What is the likely cause of the back pain?

Spondyloarthropathies Ankylosing spondylitis Reactive arthritis Arthritis associated with inflammatory bowel disease (Crohn’s disease and ulcerative colitis) Arthritis associated with psoriasis Undifferentiated spondyloarthropathy

Spondyloarthropathies: common features Involvement of the axial skeleton Asymmetric oligoarthritis of peripheral joints Enthesitis & dactylitis Seronegative negative tests for rheumatoid factor and ANA Association with HLA-B27

Involvement of axial skeleton: sacroiliac joints and all components of spine Sacroiliitis occurs in 100% cases of ankylosing spondylitis

Peripheral arthritis: asymmetric oligoarthritis with predilection for large joints of lower extremities Peripheral arthritis occurs in the great majority of patients with reactive arthritis or psoriatic arthritis but in <25% with ankylosing spondylitis

Dactylitis: “sausage” digit

Enthesitis: inflammation at insertion of Achilles tendon

Enthesitis inflammation and boney proliferation where plantar fascia inserts onto the calcaneus

Enthesitis: inflammation where tendon, ligament, or joint capsule attach to bone Spondyloarthopathy: - Enthesitis - Synovitis T cell and macrophage Infiltration Local cytokine production: IL-1, IL-6, IL-17, TNF-a

HLA-B27 and spondyloarthropathies HLA-B27 in Caucasian populations in US normal controls 8% ankylosing spondylitis 90% reactive arthritis with spondylitis 60-80% psoriatic with spondylitis 50% IBD with spondylitis 50%

HLA polymorphisms and selected autoimmune diseases Disease HLA marker relative risk ankylosing spondylitis B27 90 reactive arthritis B27 40 rheumatoid arthritis DR4 5

HLA-B27 and risk of spondyloarthropathy Strongest association between an HLA gene and a rheumatic disease BUT HLA-B27 not absolutely required HLA-B27 not sufficient <20% of B27+ individuals develop disease

HLA-B27 and risk of spondyloarthropathy Environmental triggers mucosal inflammation (infection, IBD) psoriasis unknown + Spondyloarthropathy Genetic background HLA-B27 other genes

Ankylosing Spondylitis

Ankylosing Spondylitis An inflammatory arthritis with predilection for the axial skeleton Sacroiliac joints always involved bilateral early in the course of the disease Spine (cervical, thoracic, lumbar) variable in severity and extent

Ankylosing spondylitis: a genetically determined disease Family and twin studies: largely a genetic disease Multiple genes involved: HLA-B27 confers a relative risk of 90 but constitutes only 15-50% of the overall genetic risk Environmental trigger is essential but ubiquitous

Ankylosing Spondylitis male predominance: M:F, 3:1 age of onset: 15 to 35 years - rarely begins after age 50 usual presenting complaint: low back pain

Age of onset of symptoms in AS (Feldkeller et al Age of onset of symptoms in AS (Feldkeller et al. Rheumatol Int 23: 61, 2003

Ankylosing spondylitis: “inflammatory” back pain insidious in onset persistent dull in quality associated with stiffness worse in AM or after prolonged inactivity eased by mild activity

Physical examination in ankylosing spondylitis Tenderness over the sacroiliac joints Limited range of motion of the spine Decreased chest expansion due to inflammation of the costovertebral joints

Ankylosing spondylitis Involvement of cervical spine: Inability to touch occiput to wall Involvement of lumbar spine: Failure to reverse lumbar lordosis during flexion

Sacroiliac joints: normal

Sacroiliac joints: ankylosing spondyltitis

Late ankylosing spondylitis: sacroiliitis

Progression of ankylosing spondylitis: lumbar spine facet “squared-off” syndesmophytes disease vertebrae

Ankylosing spondylitis: syndesmophytes and fusion of lumbar spine Spinal complications of AS: loss of motion osteopenia increased risk of fracture - C1-C2 subluxation

Ankylosing spondylitis spine fused in flexion

Ankylosing spondylitis: extraarticular manifestations common: - anterior uveitis (20-40%) Associated with HLA-B27 - GI inflammation (subclinical) uncommon/rare: - aortitis (3% after 15 years) - apical fibrosis of the lung

Anterior Uveitis: inflammation of the iris and ciliary body

Anterior uveitis ocular pain, photophobia, red eye

Ankylosing spondylitis: diagnosis Diagnosis is best secured by combination of inflammatory low back pain plus radiographic evidence of sacroiliitis But plain radiographs may fail to reveal changes for years MRI of SI joints HLA-B27 testing Average delay in diagnosis: 8 years

23 y.o. woman with low back pain Key features: Age of onset: 14 Quality of the back pain: inflammatory Past history of ocular inflammation Decreased L spine motion and chest expansion

23 y.o. woman with low back pain Radiograph: bilateral sacroiliitis Diagnosis: ankylosing spondylitis Started on anti-TNF therapy AM stiffness 180 min 0 min Chest expansion 2 cm 4.5 cm Returned to college full time

Ankylosing spondylitis: therapy physical therapy to maintain erect posture NSAIDs avoid use of systemic corticosteroids Anti-tumor necrosis factor therapy Symptomatic improvement in axial skeleton disease

Reactive arthritis arthritis triggered by GU or GI infections in which the inciting organism cannot be cultured from involved joints genitourinary infections: - Chlamydia trachomatis enteric infections: - Shigella - Salmonella - Yersinia - Campylobacter

Reactive Arthritis can be “idiopathic” resolution chronic arthritis GI/GU 1 -4 wks reactive infection arthritis (1-4%) months can be “idiopathic” resolution

Reactive Arthritis Cultures of synovial fluid and synovial tissue are sterile Bacterial antigens can be detected in synovial tissue, even years after the onset of arthritis No evidence of viable organisms Antibiotics: No proven benefit for enteric forms

Reactive arthritis: general features M:F, 5:1 often, at onset,constitutional symptoms with prominent weight loss, fatigue, & malaise peripheral arthritis > axial arthritis asymmetric oligoarthritis lower extremity predominance enthesitis (heel pain is common) extraarticular disease

Reactive arthritis: extraarticular manifestations eye: conjunctivitis: usually mild anterior uveitis mucous membranes and skin: urethritis oral ulcers (painless) keratoderma blenorrhagica circinate balanitis nail changes

Reactive Arthritis: Mouth Ulcers

Reactive arthritis: keratoderma

Psoriatic arthritis Peripheral arthritis Spondylitis Develops in 5-7% of patients with psoriasis Oligoarthritis, monarthritis Polyarthritis Arthritis mutilans Spondylitis Develops in 20% with peripheral arthritis

Psoriatic arthritis: polyarthritis

Psoriatic arthritis: DIP involvement Inflammation of DIP joint Nail pitting

Psoriatic arthritis: spondylitis

Spondyloarthropathies: key points Shared features Why we group the spondyloarthropathies How the spondyloarthropathies differ from RA Major clinical manifestations of ankylosing spondylitis and reactive arthritis Recognize clinical presentations of these diseases Importance of HLA-B27 as a risk factor