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Seronegative Spondyloarthropathies

NICE guideline [NG65] Spondyloarthritis in over 16s: diagnosis and management. Last updated: Jun 2017.

Seronegative Spondyloarthropathies

Seronegative spondyloarthropathies are a group of chronic inflammatory rheumatologic disorders that are distinctive from rheumatoid arthritis. This group includes ankylosing spondylitis, reactive arthritis, psoriatic arthritis, and enteropathic arthritis.

Seronegative spondyloarthropathies have the following shared features:

  • Seronegative = -ve rheumatoid factor and anti-CCP antibodies
  • Associated with HLA-B27
  • Shared manifestations (the As)
    • Axial arthritis
    • Asymmetrical arthritis
    • Anterior uveitis
    • Aortitis → aortic regurgitation
    • Attachment inflammation (enthesitis)
    • All sausage digits (dactylitis)

However, not every seronegative spondyloarthropathy presents with all of these “A” features. See the disease-specific sections below for further details.

Classification of spondyloarthropathies based on the predominantly involved joints:

Type Definition Classic examples
Axial spondyloarthritis Primarily affects the axial skeleton
  • Ankylosing spondylitis
Peripheral spondylarthritis Primarily affects the peripheral joints and/or entheses
  • Psoriatic arthritis
  • Reactive arthritis
  • Enteropathic spondylarthritis

Disclaimer

With the exception of ankylosing spondylitis, which is an axial spondyloarthritis by definition, the other seronegative spondyloarthropathies may affect the axial skeleton and/or peripheral joints.

Therefore, specialist management is often guided by the pattern of axial versus peripheral involvement. However, this is considered beyond a non-specialist level. For simplicity, this article presents management according to the specific condition, rather than the pattern of joint involvement.

Ankylosing Spondylitis

Causes and Risk Factors

The exact underlying cause remains unknown.

Risk factors: [Ref]

  • HLA-B27 – most important genetic risk factor
  • Males
  • Family history
  • Young age
    • Onset of disease is often <30 y/o
    • It is rare for ankylosing spondylitis to be diagnosed >45 y/o

Clinical Features

By definition, ankylosing spondylitis is an axial spondyloarthropathy +/- peripheral spondylarthritis

[Ref]

Category Subcategory Clinical features
Axial manifestation (defining feature) Early features Gradual onset of inflammatory lower back pain and buttock pain (from the sacroiliitis)

  • Pain characteristic: pain that worsens with rest and relieves with activity
  • Nocturnal back pain may be severe enough to wake the patient and improves upon getting up
  • Morning stiffness for >30 min

Sacroiliitis can be demonstrated by:

  • Bilateral sacroiliac joint tenderness
  • +ve FABER test
Advanced features
  • Severe spine rigidity with limited mobility
  • Thoracolumbar hyperkyphosis (stooped posture) – most prominent
  • Cervical kyphosis and “chin-on-chest” deformity may be seen in severe cases
  • Increased risk of
    • Vertebral fracture (from a combination of spinal rigidity and osteoporosis)
    • Atlantoaxial subluxation (cervical spine instability)
    • Cauda equina syndrome

Reduced spinal mobility can be demonstrated by:

  • Schober test
  • ↓ Lateral lumbar flexion
  • ↓ Chest expansion
Extra-axial manifestation (variable) Musculoskeletal
  • Peripheral arthritis (typically asymmetrical and oligoarticular)
  • Enthesitis (inflammation at the insertion points of tendons and ligaments)
  • Dactylitis (severe swelling of the fingers and toes) – uncommon
Eye
  • Anterior uveitis (most common extra-axial manifestation)
Cardiovascular
  • Aortitis → aortic regurgitation, heart block
  • ↑ Risk of cardiovascular disease
Lungs
  • Restrictive lung disease (due to reduced chest wall expansion and limited spinal mobility)
  • Pulmonary fibrosis (upper lung zone)
GI
  • Inflammatory bowel disease
Skin
  • Psoriasis

Referral Criteria

Refer to rheumatology if a <45 y/o has back pain for >3 months with at least 4 of the following:

  • Low back pain started <35 y/o
  • Waking during the 2nd half of the night due to symptoms
  • Buttock pain
  • Improvement with movement
  • Improvement within 48 hours of taking NSAIDs
  • 1st degree relative with spondyloarthritis
  • Current or past arthritis
  • Current or past enthesitis
  • Current or past psoriasis

If exactly 3 of the additional criteria are present, perform an HLA‑B27 test. Refer to rheumatology if HLA-B27 is +ve

Investigation and Diagnosis

Diagnostic work-up (for suspected ankylosing spondylitis):

Investigation Description Findings in ankylosing spondylitis
Blood tests
  • HLA-B27
  • Inflammatory markers (CRP and ESR)
  • +ve HLA-B27
  • ↑ Inflammatory markers
Imaging
  • Initial choice: X-ray of the sacroiliac joint
  • If equivocal → MRI
  • Sacroiliitis (specifically grade 3 or 4 changes)

Do NOT rule out a diagnosis solely on the basis of a -ve HLA-B27 result or normal CRP / ESR

Other investigation findings in ankylosing spondylitis:

Investigation Findings in ankylosing spondylitis
Spine X-ray [Ref] Early findings:

  • Squaring of the vertebral bodies (best seen on lateral X-rays)
  • “Shiny corner sign” – small erosions and reactive sclerosis at the vertebral body corners

Late findings:

  • Facet joint fusion
  • Syndesmophytes formation
    • Hallmark but late sign: “bamboo spine
  • Spinal ligament calcification → “dagger sign
  • Spinal deformities
    • Thoracolumbar kyphosis
    • Loss of lumbar lordosis
    • Cervical kyphosis – in severe cases
Chest X-ray Possible apical pulmonary fibrosis
Lung function test Restrictive pattern possible (↓ FVC with normal FEV1:FVC ratio)
Echocardiography Aortic root dilatation, aortic valve thickening, aortic regurgitation possible
DEXA Osteoporosis is common

However, syndesmophytes can cause a falsely elevated bone mineral density

Management

Non-Pharmacological Management

Refer all patients to a specialist physiotherapist for an individualised structured exercise programme, which should include:

  • Stretching, strengthening, and postural exercises
  • Deep breathing
  • Spinal extension
  • Range of motion exercises
  • Aerobic exercises

Consider hydrotherapy as an adjunctive therapy

NICE recommends considering regular osteoporosis assessment every 2 years (with DEXA scan)

Pharmacological Management

Step 1 Oral NSAIDs

  • Offer at the lowest effective dose
  • If an NSAID taken at maximum tolerated dose for 2-4 weeks did not provide adequate pain relief → consider switching to another NSAID
Step 2 (if NSAIDs are ineffective) TNF-alpha inhibitor, such as:

  • Infliximab
  • Adalimumab
  • Etanercept
  • Certolizumab pegol
  • Golimumab
Step 3 (if TNF-alpha inhibitors are inappropriate or ineffective)
  • IL-17A inhibitor (e.g. secukinumab, ixekizumab, bimekizumab)
  • JAK inhibitors (e.g. tofacitinib, upadacitinib)

Surgical Management

Only consider surgery if there is spinal deformity that is:

  • Significantly affecting QoL, and
  • Severe or progressing despite optimal non-surgical management

Reactive Arthritis

[Ref]

Causes

Reactive arthritis is a sterile joint inflammation triggered by a preceding mucosal infection, most commonly:

  • Genitourinary infections (→ sexually acquired reactive arthritis)
    • Chlamydia trachomatis – most common
    • Neisseria gonorrhoea
    • Ureaplasma urealyticum
  • Gastrointestinal infections (→ post-enteric reactive arthritis)
    • Salmonella
    • Shigella
    • Campylobacter
    • Yersinia

Risk Factors

  • History of genitourinary or gastrointestinal infection 1-6 weeks prior to the onset of arthritis
  • Young adults (18-40 y/o)
  • Males (for sexually acquired reactive arthritis)
    • Post-enteric reactive arthritis affects males and females equally
  • HLA-B27

Clinical Features

Reactive arthritis is classically considered a peripheral spondyloarthropathy with axial involvement being less common.

Articular manifestation
  • Arthritis
    • Typically asymmetric monoarthritis or oligoarthritis
    • Mainly affects large lower limb joints (e.g. knee, ankle and feet)
  • Enthesitis (e.g. Achilles tendon, plantar fascia)
  • Dactylitis (“sausage digits”) (diffuse swelling of the fingers and toes)
Extra-articular manifestation
  • Eye
    • Conjunctivitis
    • Anterior uveitis
  • Genitourinary
    • Urethritis
    • Cervicitis
  • Mucocutaneous
    • Painless oral ulcers
    • Psoriasis-like nail changes
    • Keratoderma blennorrhagicum on the palms / soles
    • Circinate balanitis on the glans penis

The classic triad of reactive arthritis:

  • Conjunctivitis (“can’t see”)
  • Urethritis (“can’t pee”)
  • Arthritis (“can’t limb a tree)

The term “Reiter syndrome” was historically used to describe the specific triad of symptoms, but it has fallen out of favour as it does not capture the full clinical spectrum and is tied to ethical concerns regarding Hans Reiter.

Referral Criteria (For Peripheral Spondyloarthritides)

Refer patients with dactylitis to rheumatology

Refer the following patients with enthesitis without apparent mechanical cause to rheumatology if:

  • Persistent, or
  • In multiple joints, or
  • ANY of the following are also present
    • Back pain without apparent mechanical cause
    • Current or past uveitis
    • Current or past psoriasis
    • Gastrointestinal or genitourinary infection
    • IBD (Crohn’s disease or UC)
    • 1st degree relative with spondyloarthritis or psoriasis

Investigation and Diagnosis

Reactive arthritis is primarily a clinical diagnosis

Supporting investigations include:

Investigation Description
Blood tests
  • ↑ CRP and ESR (non-specific)
  • +ve HLA-B27 (not necessary for diagnosis)
  • -ve Serology (rheumatoid factor and anti-CCP antibodies)
Imaging
  • Plain X-rays are often normal
  • Ultrasound and MRI can be used to detect synovitis and enthesitis
Synovial fluid analysis Characterised by sterile inflammation

  • Cloudy appearance
  • ↑ WCC count, usually with neutrophil predominance
  • -ve Gram stain and culture
  • No crystals
Microbiology testing
  • Stool cultures, urogenital swabs, or urine PCR can be used to identify the triggering pathogen
  • However, -ve microbiology testing does NOT exclude reactive arthritis

Do not routinely test for infective antibody status to diagnose reactive arthritis in people with a history of gastrointestinal infection

Management

Treat any underlying infections For example, manage the underlying chlamydia with doxycycline (see the Chlamydia article for more information)

While the active underlying genitourinary or gastrointestinal infection should be treated, do NOT offer long-term antibiotics (≥4 weeks) solely to manage the resulting reactive arthritis

Management of arthritis Acute management:

  • 1st line: NSAIDs
  • 2nd line: corticosteroids (intra-articular injections for large joint inflammation and systemic steroids for severe, refractory cases)

The acute phase is usually self-resolving

Long-term DMARD therapy is NOT always needed, only indicated if symptoms become chronic (>6 months) or if the disease is refractory

Chronic management (DMARDs):

  • 1st line: sulfasalazine
  • 2nd line: biologics (e.g. TNF-alpha inhibitors, IL-17 inhibitors)
Management of extra-articular manifestation

Psoriatic Arthritis

[Ref]

Causes and Risk Factors

The exact cause of psoriatic arthritis is not fully understood.

Genetic risk factors
  • 1st degree relative with psoriasis or psoriatic arthritis
  • HLA-B27 and other HLA genes (e.g. HLA-B08:01, HLA-B27:05, HLA-B38, HLA-B39)
  • Non-HLA genes, such as IL-23R, are also implicated
Environmental triggers
  • Infections (e.g. Streptococcus)
  • Recent antibiotic exposure
  • Koebner Phenomenon
    • Skin trauma can trigger psoriasis flares
    • While trauma to the joints or entheses can trigger the onset of arthritis

Smoking appears to be protective against the development of psoriatic arthritis (NB this contrasts with smoking being the strongest environmental risk factor for RA)

Associations and comorbidities
  • Psoriatic arthritis is associated with psoriasis

Psoriatic arthritis is a distinct inflammatory arthritis associated with psoriasis, rather than psoriasis itself.

  • While most patients with psoriatic arthritis have psoriasis (up to 70% of patients first develop psoriasis, then arthritis)
  • Only ~20% of patients with psoriasis develop psoriatic arthritis

~15% of patients develop both psoriasis and psoriatic arthritis from the onset, and another ~15% develop psoriatic arthritis, then psoriasis.

  • Psoriatic arthritis is also associated with
    • IBD (esp. Crohn’s disease)
    • Obesity and metabolic syndrome
    • Hypertension
    • Hyperlipidaemia
    • Cardiovascular disease

Clinical Features

Psoriatic arthritis is classically a peripheral spondyloarthropathy, but may also have axial involvement.

Psoriatic arthritis is classically classified into 5 clinical subtypes:

Asymmetric oligoarthritis
  • Most common initial presentation
  • Characterised by involving <5 small or large joints (thus oligoarticular)
Symmetrical polyarthritis
  • Presents similarly to RA
  • Characterised by involving ≥5 small or large joints (thus polyarticular)
  • Involves the DIP joint (which is spared in RA)
Distal arthritis
  • Prominent involvement of the DIP joint
Arthritis mutilans A severe, highly destructive form characterised by osteolysis, leading to:

  • Telescoping of the digits
  • Digit shortening
  • Joint deformities
Spondyloarthritis (axial disease)
  • Spine involvement
  • Asymmetrical sacroiliitis (as opposed to the symmetrical sacroiliitis in ankylosing spondylitis)

Other hallmark features:

  • Nail disease (pitting, onycholysis, splinter haemorrhages)
    • Present in 80-90% of patients
    • Strongly associated with distal arthritis
  • Other MSK features
    • Enthesitis (e.g. Achilles tendon, plantar fascia)
    • Dactylitis (“sausage digits”) (diffuse swelling of the fingers and toes)
  • Uveitis
    • Often chronic, bilateral uveitis (posterior uveitis possible)
    • Differs from the typical acute, anterior uveitis seen in ankylosing spondylitis

Ocular disease in the form of uveitis differs from that associated with ankylosing spondylosis because it is often chronic, bilateral, and can involve the posterior elements

Referral Criteria (For Peripheral Spondyloarthritides)

Refer patients with dactylitis to rheumatology

Refer the following patients with enthesitis without apparent mechanical cause to rheumatology if:

  • Persistent, or
  • In multiple joints, or
  • ANY of the following are also present
    • Back pain without apparent mechanical cause
    • Current or past uveitis
    • Current or past psoriasis
    • Gastrointestinal or genitourinary infection
    • IBD (Crohn’s disease or UC)
    • 1st degree relative with spondyloarthritis or psoriasis

Investigation and Diagnosis

Investigation Findings in psoriatic arthritis
X-rays Changes in peripheral joints:

  • Juxarticular bone destruction (erosions / osteolysis) and new bone formation
  • Classic “pencil-in-cup” deformity is seen in severe cases

Axial disease may show bulky, asymmetric, and discontinuous syndesmophytes (on spine X-rays)

Ultrasound and MRI Highly sensitive for detecting early subclinical joint inflammation, enthesitis, and dactylitis before X-ray changes occur
Blood tests
  • ESR and CRP only elevated in ~40% of patients (normal results do NOT exclude psoriatic arthritis)
  • -ve Serology (rheumatoid factor and anti-CCP antibodies)

Management

Note the following management principles apply to the peripheral forms of psoriatic arthritis (i.e. non-axial disease).

Unlike most other spondyloarthropathies, psoriatic arthritis is commonly managed with DMARDs as part of first-line long-term treatment, making its management more similar to RA.

1st line: conventional DMARDs (e.g. methotrexate, sulfasalazine, leflunomide)

  • If there is inadequate response to conventional DMARD monotherapy at the maximum tolerated dose for at least 3 months, consider switching or adding another conventional DMARD
  • Adjuncts to manage symptoms (in addition to DMARD)
    • 1st line: consider NSAIDs
    • 2nd line: corticosteroids

If psoriatic arthritis failed to respond adequately to at least 2 conventional DMARDs → escalate to biological DMARDs

  • TNF-alpha inhibitors (e.g. adalimumab, etanercept, infliximab)
  • IL-17 inhibitors (e.g. secukinumab, ixekizumab)
  • IL-23 inhibitors (e.g. guselkumab)
  • IL12/23 inhibitors (e.g. ustekinumab)

Exception: if the patient has non-progressive monoarthritis, consider intraarticular corticosteroid injections

Enteropathic Arthritis

[Ref]

Causes and Risk Factors

Enteropathic arthritis is strongly associated with IBD (Crohn’s disease and UC)

Genetic risk factors:

  • HLA-B27 is strongly associated with axial involvement
  • Other HLAs are associated with peripheral involvement (e.g. HLA-DRB1*0103, HLA-B27, and HLA-B35, HLA-B44)

Clinical Manifestation

Enteropathic arthritis may present as axial and/or peripheral spondyloarthropathy

Axial enteropathic arthritis

Axial enteropathic arthritis presents very similarly to ankylosing spondylitis

Gradual onset of inflammatory lower back pain and buttock pain (from the sacroiliitis)

  • Pain characteristic: pain that worsens with rest and relieves with activity
  • Nocturnal back pain may be severe enough to wake the patient and improves upon getting up
  • Morning stiffness for >30 min

Sacroiliitis can be demonstrated by:

  • Bilateral sacroiliac joint tenderness
  • +ve FABER test

Imaging findings:

  • Sacroiliitis
  • Squaring of the vertebral bodies (best seen on lateral X-rays)
  • “Shiny corner sign” – small erosions and reactive sclerosis at the vertebral body corners
  • Syndesmophytes formation
      • Hallmark but late sign: “bamboo spine
  • Spinal ligament calcification → “dagger sign
Peripheral enteropathic arthritis Peripheral enteropathic arthritis is typically non-erosive and non-deforming, with 2 types:

  • Type 1
    • Oligoarticular (<5 joints affected)
    • Asymmetrical, involving large joints (e.g. knees, hips and shoulders)
    • Attacks are self-limiting and strongly correlate with IBD flare
  • Type 2
    • Polyarticular (≥5 joints affected)
    • Symmetrical, involving small joints of the hand
    • Attacks are chronic and are independent of IBD activity

Referral Criteria (For Peripheral Spondyloarthritides)

Refer patients with dactylitis to rheumatology

Refer the following patients with enthesitis without apparent mechanical cause to rheumatology if:

  • Persistent, or
  • In multiple joints, or
  • ANY of the following are also present
    • Back pain without apparent mechanical cause
    • Current or past uveitis
    • Current or past psoriasis
    • Gastrointestinal or genitourinary infection
    • IBD (Crohn’s disease or UC)
    • 1st degree relative with spondyloarthritis or psoriasis

Management

Management of enteropathic arthritis requires an MDT approach involving both rheumatology and gastroenterology

Peripheral arthritis 1st line: conventional DMARDs (e.g. methotrexate, sulfasalazine, leflunomide) +/- NSAIDs as an adjunct
Axial arthritis Management similarly as ankylosing spondylitis:

  • Conservative management (physiotherapy)
  • Pharmacological management
    • 1st line: NSAIDs
    • 2nd line: TNF-alpha inhibitors (e.g. infliximab, adalimumab, etanercept)

References

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