What are the symptoms and treatment options for a young adult male with a family history of ankylosing spondylitis?

Symptoms of Ankylosing Spondylitis

Ankylosing spondylitis presents with inflammatory back pain that improves with exercise and worsens at rest, particularly in the morning, accompanied by prolonged morning stiffness of the spine. 1, 2

Cardinal Axial Symptoms

Inflammatory back pain is the hallmark feature that distinguishes AS from mechanical back pain, characterized by:

• Nocturnal back pain that disrupts sleep 3
• Diurnal variation with symptoms worse in the morning 3
• Prolonged morning stiffness of the spine, typically lasting more than 30 minutes 1, 2
• Improvement with exercise rather than rest 1, 2
• Good response to NSAID therapy 3

The pain primarily affects the sacroiliac joints and spine due to sacroiliitis and spondylitis. 1

Peripheral Joint Manifestations

Beyond axial involvement, AS frequently presents with:

• Peripheral arthritis, particularly affecting hips, knees, ankles, and shoulders 1, 4
• Enthesitis (inflammation at tendon and ligament insertion sites) 1
• In juvenile-onset disease, peripheral joint pain may precede back symptoms by many years, making early diagnosis challenging 4

Extra-Articular Manifestations

AS is a systemic disease with important extra-articular features:

• Acute anterior uveitis (eye inflammation) 1
• Psoriasis 1
• Inflammatory bowel disease 1, 5

Diagnostic Considerations for Young Adults with Family History

Given the family history context, several key points warrant emphasis:

Genetic predisposition is substantial—90-95% of AS patients are HLA-B27 positive, though only 1% of HLA-B27 carriers develop the disease. 2 A positive family history significantly increases risk.

Diagnostic delay averages 5-7 years between symptom onset and diagnosis, as symptoms commonly begin in late adolescence and early adulthood. 1, 2 This delay occurs because:

• Inflammatory markers (ESR, CRP) are not invariably elevated 6
• Radiographic changes are often late findings 6, 3
• Plain X-rays may be normal in early disease 3

MRI is the most sensitive imaging technique for detecting early inflammatory lesions before radiographic sacroiliitis develops, and should be considered when history supports the diagnosis but plain radiography is normal. 6, 3

Progressive Structural Changes

Without treatment, the disease leads to:

• Formation of syndesmophytes (bony bridges between vertebrae) 1
• Spinal ankylosis (fusion) 1
• Fixed kyphotic deformity in advanced cases 7
• Hip involvement with potential structural damage 1

Functional Impact

AS imposes substantial physical and social burdens, with disability comparable to rheumatoid arthritis:

• Interference with work and schooling 1, 2, 3
• Reduced quality of life 8
• Progressive loss of spinal mobility and flexibility 1

Treatment Overview for Context

NSAIDs are first-line therapy and should be initiated promptly when AS is suspected, as they reduce pain and stiffness in most patients. 1, 2, 5 Recent evidence suggests continuous NSAID use may slow radiographic progression. 5, 6

TNF inhibitors (such as etanercept, infliximab, adalimumab) have revolutionized treatment for patients with persistently high disease activity despite NSAIDs, with more than two-thirds of inadequate NSAID responders experiencing striking quality of life improvements. 1, 5, 9, 6

Non-pharmacological treatment including patient education and regular exercise is fundamental and should be initiated immediately alongside pharmacological therapy. 1, 2, 5