Ankylosing Spondylitis (AS)
Basics
- Axial inflammatory spondyloarthropathy with chronic low back pain >3 months.
- Sacroiliitis evident on radiography.
- Encompasses radiographic AS and non-radiographic axial spondyloarthritis (nr-axSpA).
- Affects musculoskeletal, ophthalmic, cardiovascular, neurologic, pulmonary, and gastrointestinal systems.
- Also known as Marie-Strümpell disease or “bamboo spine.”
Epidemiology
- Onset usually before age 30; rare after 45.
- Male predominance (~2:1).
- Prevalence: 0.1-0.5% for AS; 0.9-1.4% for axSpA in US adults.
- Peripheral disease shows gender differences in symptoms.
Etiology & Pathophysiology
- Autoinflammation at bacterial exposure sites or mechanical stress in genetically predisposed.
- Enthesitis causes erosion, remodeling, and new bone formation.
- Genetics: 85-95% HLA-B27 positive; also ERAP1 and IL23R gene associations.
- Gut microbiome may contribute; 57-70% show asymptomatic intestinal inflammation.
- Smoking increases risk.
Risk Factors
- Positive family history.
- HLA-B27 positive monozygotic twins have 63% concordance.
- Active smoking.
- Possible gut microbiome dysbiosis.
Common Associated Conditions
- Peripheral arthritis, enthesopathy (Achilles tendonitis, plantar fasciitis).
- Uveitis (6-30%), psoriasis (10%), dactylitis.
- Inflammatory bowel disease (4-6%).
Diagnosis
History
- Inflammatory back pain: insidious onset, <45 years, >3 months duration.
- Pain worse at rest, improves with activity, night pain causing awakening.
- Alternating buttock/hip pain, fatigue, low-grade fever.
- Enthesitis symptoms: tendon and fascia pain; dactylitis; iritis.
Physical Exam
- SI joint tenderness, lumbar lordosis loss, limited spinal motion.
- Tenderness at tendon insertion sites.
- Extra-articular: uveitis, psoriasis, IBD.
Differential Diagnosis
- Mechanical back pain.
- Other inflammatory arthritis.
- Osteoarthritis, discitis, infection.
- Vertebral fractures.
- Fibromyalgia.
Diagnostic Tests & Interpretation
- ESR and CRP may be mildly elevated or normal.
- HLA-B27 testing supportive.
- Imaging:
- Pelvic x-ray AP view for sacroiliitis.
- MRI if radiographs negative or equivocal.
- Spine lateral view to rule out other causes.
- Diagnosis per 2009 ASAS criteria or 1984 modified New York criteria.
Treatment
General Measures
- Symptom control, maintain flexibility, posture, work ability.
- Aggressive physical therapy recommended.
Medications
- First-line: NSAIDs (naproxen, celecoxib, ibuprofen).
- Caution with cardiovascular, GI, renal risks.
- Intra-articular corticosteroids for peripheral symptoms; systemic steroids not recommended.
- Second-line: Biologics
- TNF inhibitors: infliximab, etanercept, adalimumab, certolizumab, golimumab.
- IL-17 inhibitors: secukinumab, ixekizumab.
- JAK inhibitors: tofacitinib.
- DMARDs generally ineffective for axial disease; may help peripheral arthritis.
Precautions
- Screen for TB, hepatitis B before biologics.
- Update immunizations prior to biologics.
- Avoid live vaccines once on biologics.
Issues for Referral
- Rheumatology for diagnosis and biologic management.
- Specialty referral for extra-articular manifestations.
Surgery and Procedures
- Assess cervical spine stability before intubation.
- Hip replacement for refractory pain/disability.
- Spinal osteotomy for severe deformity.
Ongoing Care
- Monitor posture, range of motion every 6-12 months.
- Disease activity scores (BASDAI, ASDAS).
- Regular CRP/ESR monitoring.
- Screen for osteoporosis via DEXA.
Patient Education
- Maintain activity and posture.
- Recommended exercises: swimming, water aerobics, tai chi, walking.
- Arthritis Foundation and Spondylitis Association of America resources.
Prognosis
- Variable progression.
- Early diagnosis and treatment improve outcomes.
Complications
- MSK: osteoporosis, spinal fusion with kyphosis, fractures, cauda equina syndrome (rare).
- Pulmonary: restrictive lung disease, upper lobe fibrosis (rare).
- Cardiac: conduction defects, aortic insufficiency, pericarditis (rare).
- Eye: uveitis, cataracts.
- Renal: IgA nephropathy, amyloidosis (<1%).
- GI: microscopic ileal and colonic ulcerations (mostly asymptomatic).