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| Ankylosing spondylitis | |
|---|---|
| Name | Ankylosing spondylitis |
| Field | Rheumatology |
| Symptoms | Chronic back pain, stiffness, reduced spinal mobility |
| Complications | Spinal fusion, uveitis, cardiovascular disease |
| Onset | Young adulthood |
| Causes | Autoimmune, genetic predisposition |
| Risks | HLA-B27 positivity, male sex, family history |
| Diagnosis | Clinical evaluation, imaging, HLA-B27 testing |
| Treatment | NSAIDs, TNF inhibitors, IL-17 inhibitors, physiotherapy |
Ankylosing spondylitis is a chronic inflammatory disease predominantly affecting the axial skeleton and sacroiliac joints, leading to pain, stiffness, and progressive spinal ankylosis in some individuals. It commonly begins in young adulthood and has strong genetic associations, variable extra‑articular manifestations, and a substantial impact on function and quality of life. Management integrates pharmacologic, rehabilitative, and surgical strategies across specialties.
Patients typically present with inflammatory low back pain characterized by insidious onset before age 45, morning stiffness, and improvement with exercise rather than rest; associated features include asymmetric peripheral oligoarthritis, enthesitis, and hip involvement. Extra‑articular manifestations often include acute anterior uveitis, inflammatory bowel disease flares, and psoriasis; these may prompt evaluation by ophthalmologists, gastroenterologists, or dermatologists. Systemic consequences such as fatigue, reduced chest expansion from costovertebral involvement, and respiratory restriction can lead to interactions with cardiology and pulmonology services, while long‑standing spinal rigidity raises concerns for spinal fracture and neurological compromise requiring neurosurgical or orthopedic assessment.
Pathogenesis reflects a complex interplay of genetic predisposition, innate and adaptive immune responses, and environmental triggers. The strongest genetic association is with the major histocompatibility complex allele HLA-B27, but other loci identified in genome‑wide association studies implicate ERAP1, IL23R, and other immune‑related genes; these findings have engaged investigators at institutions such as the Broad Institute and the Wellcome Trust Sanger Institute. Molecular mechanisms proposed include aberrant peptide presentation, misfolding and unfolded protein responses, and microbiome‑driven mucosal immune activation; research collaborations between centers like the Karolinska Institutet, University of Oxford, and Harvard Medical School have explored these pathways. Cytokine networks involving tumor necrosis factor, interleukin‑17, and interleukin‑23 drive enthesial and synovial inflammation and form the rationale for targeted biologic therapies developed by pharmaceutical companies including Novartis, Janssen, and Amgen.
Diagnosis combines clinical assessment, laboratory testing, and imaging. Classification criteria such as those developed by the Assessment of SpondyloArthritis international Society guide clinicians in settings from University College Hospital to Mayo Clinic; HLA‑B27 testing and acute‑phase reactants (CRP, ESR) support the evaluation. Radiography of the sacroiliac joints and spine can show sacroiliitis and syndesmophytes, while magnetic resonance imaging, used at centers like Massachusetts General Hospital and Charité – Universitätsmedizin Berlin, detects early inflammatory changes. Differential diagnosis includes mechanical low back pain, rheumatoid arthritis, psoriatic arthritis, and infectious spondylitis; multidisciplinary teams often reference guidelines from organizations such as the American College of Rheumatology and the European League Against Rheumatism.
First‑line therapy for axial symptoms typically involves nonsteroidal anti‑inflammatory drugs, supervised exercise programs, and physiotherapy delivered through rehabilitation services at hospitals like Cleveland Clinic or Toronto General Hospital. For patients with inadequate response, biologic agents targeting tumor necrosis factor (etanercept, infliximab, adalimumab) or interleukin‑17 (secukinumab, ixekizumab) are recommended; these agents were developed and trialed in multicenter studies involving institutions such as the National Institutes of Health and University of California, San Francisco. Adjunctive measures include smoking cessation interventions, osteoporosis risk assessment, and orthopedic surgery for hip replacement or spinal corrective procedures in specialized centers like Rothman Orthopaedics. Monitoring for drug‑related adverse effects requires collaboration with infectious disease, dermatology, and oncology services in complex cases.
Prognosis varies: many patients maintain functional status with modern therapies, while others develop progressive spinal fusion, diminished chest wall mobility, and irreversible structural damage. Complications include vertebral fracture with neurologic injury after minimal trauma, cardiovascular involvement such as aortitis and conduction abnormalities, uveitis leading to vision loss, and increased comorbidity burden including osteoporosis and depression. Longitudinal cohorts from populations tracked by the Framingham Heart Study and national registries in Sweden and Denmark have informed risk stratification and long‑term outcomes.
Prevalence estimates vary by ancestry and region, with higher rates reported among populations with greater HLA‑B27 frequency such as Northern Europeans and lower prevalence in some East Asian and African populations; national surveys in countries like Norway, the United Kingdom, the United States, and Japan provide regional data. Onset is most common in the second to fourth decades, with a male predominance historically reported, though recognition in women has increased. Epidemiologic research conducted by organizations including the World Health Organization and national health services informs health‑care planning and resource allocation.
Descriptions of spinal ankylosis appear in paleopathology reports of ancient skeletal remains excavated by archaeological teams from institutions such as the British Museum and the Natural History Museum, and clinical characterization expanded with 19th‑century physicians connected to universities like the University of Cambridge and University of Edinburgh. The eponym historically used in clinical literature reflected evolving understanding by rheumatologists at centers including Johns Hopkins and the University of Paris. Advocacy groups, patient organizations, and professional societies such as the Spondylitis Association and the American College of Rheumatology have advanced research, education, and access to therapies, while pharmaceutical‑academic partnerships have accelerated trials and guideline development.
Category:Rheumatology diseases