NON RARE IN EUROPE: Ankylosing spondylitis

Ankylosing spondylitis (AS), also known as Bechterew disease or Marie-Strümpell disease, is a chronic inflammatory disease primarily affecting the axial skeleton, including the spine and sacroiliac joints. It belongs to the group of spondyloarthropathies and is strongly associated with the HLA-B27 gene. The disease causes inflammation at the sites where ligaments and tendons attach to bone (enthesitis), which over time can lead to new bone formation, resulting in progressive stiffness and potential fusion (ankylosis) of the spine. Beyond the axial skeleton, AS can affect peripheral joints, and extra-articular manifestations may include anterior uveitis (eye inflammation), inflammatory bowel disease, psoriasis, and, less commonly, cardiac or pulmonary involvement. The hallmark symptom is chronic inflammatory back pain, which typically begins insidiously before age 45, improves with exercise, and worsens with rest. Patients often experience prolonged morning stiffness lasting more than 30 minutes. As the disease progresses, reduced spinal mobility and chest expansion may develop. Fatigue is a common and often underappreciated symptom. Peripheral arthritis, particularly of the hips and shoulders, can occur and may be associated with significant functional impairment. Treatment of ankylosing spondylitis involves a combination of regular physical exercise, physiotherapy, and pharmacological therapy. Nonsteroidal anti-inflammatory drugs (NSAIDs) remain the first-line treatment for symptom management. For patients with inadequate response to NSAIDs, biologic disease-modifying agents, particularly tumor necrosis factor (TNF) inhibitors (such as adalimumab, etanercept, infliximab) and interleukin-17 (IL-17) inhibitors (such as secukinumab and ixekizumab), have demonstrated significant efficacy. Janus kinase (JAK) inhibitors represent a newer therapeutic option. Conventional synthetic disease-modifying antirheumatic drugs (DMARDs) such as sulfasalazine may be considered for peripheral joint involvement but are generally ineffective for axial disease. Surgical intervention, including hip replacement or spinal osteotomy, may be necessary in severe cases.

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