From the Guidelines
For a 24-year-old patient with VACTERL association presenting with joint swelling, I strongly recommend referral to a rheumatologist within 6 weeks after the onset of symptoms, as suggested by the 2016 EULAR recommendations for the management of early arthritis 1. The patient should undergo a comprehensive clinical examination, which is the method of choice for detecting arthritis, and may be confirmed by ultrasonography 1. Initial laboratory tests should include complete blood count, comprehensive metabolic panel, erythrocyte sedimentation rate, C-reactive protein, rheumatoid factor, anti-cyclic citrullinated peptide antibodies, antinuclear antibodies, complement levels (C3, C4), and uric acid levels. Additional testing should include HLA-B27 if spondyloarthropathies are suspected. Imaging studies should begin with plain radiographs of the affected joints, followed by ultrasound or MRI if needed to assess for synovitis, effusion, or erosions. Joint aspiration with synovial fluid analysis (cell count, crystal examination, culture) is crucial if there's significant effusion. Given the VACTERL history, special attention should be paid to potential skeletal anomalies that might contribute to secondary joint issues. The patient's vertebral, anal, cardiac, tracheo-esophageal, renal, and limb abnormalities (components of VACTERL) may influence joint manifestations or treatment options. While VACTERL itself is not directly associated with inflammatory arthritis, patients with congenital anomaly syndromes can still develop autoimmune conditions, and certain VACTERL-related skeletal abnormalities might predispose to mechanical joint problems that can mimic inflammatory arthritis. Key considerations in management include:
- Early referral to a rheumatologist
- Comprehensive clinical examination and ultrasonography
- Laboratory tests to identify potential autoimmune conditions
- Imaging studies to assess joint damage
- Potential impact of VACTERL-related skeletal anomalies on joint manifestations and treatment options
- Consideration of disease-modifying antirheumatic drugs (DMARDs) if persistent arthritis is suspected, with methotrexate as the anchor drug unless contraindicated 1.
From the Research
Rheumatologic Workup for Joint Swelling
- In a patient with a history of VACTERL (Vertebral defects, Anal atresia, Cardiac defects, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities) presenting with joint swelling, a thorough rheumatologic workup is essential to determine the underlying cause of the swelling 2.
- The workup should include laboratory tests such as rheumatoid factor (RF), anti-cyclic citrullinated peptide (CCP) antibody, C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR) to aid in the diagnosis of rheumatoid arthritis (RA) or other inflammatory arthropathies 3, 4.
Diagnostic Utility of Laboratory Tests
- The combination of RF and anti-CCP antibody has been shown to have high sensitivity and specificity for the diagnosis of RA, with a sensitivity of 91.0% and specificity of 74.4% for RF, and 88.0% and 90.4% for anti-CCP antibody, respectively 3.
- Anti-CCP antibody is more specific than RF and other parameters for the diagnosis of RA, with a higher positive predictive value 4.
- CRP is a better indicator of inflammation than ESR, being more sensitive and responsive to changes in the clinical situation, although false negative and false positive results can occur 5.
Interpretation of Laboratory Results
- Normal ESR, CRP, and RF results do not rule out RA, as up to 45% of patients with RA may have normal ESR, 44% may have normal CRP, and 38% may have negative RF tests at presentation 6.
- The presence of elevated anti-CCP antibody titers has better diagnostic performance than MMP-3, RF, CRP, and ESR in patients with erosive RA 4.
- A comprehensive evaluation of laboratory results, clinical presentation, and medical history is necessary to establish an accurate diagnosis and develop an effective treatment plan for patients with joint swelling and a history of VACTERL 2.