From the Research
A preliminary rheumatologic workup for a patient with VACTERL association should include complete blood count, comprehensive metabolic panel, erythrocyte sedimentation rate, C-reactive protein, rheumatoid factor, anti-nuclear antibody, and anti-cyclic citrullinated peptide antibodies, as these tests can help identify potential rheumatologic conditions that may be present in these patients 1. When considering the workup, it's essential to note that VACTERL patients may have overlapping autoimmune conditions that affect their joints and connective tissues, making a comprehensive approach crucial.
- The inclusion of erythrocyte sedimentation rate and C-reactive protein is supported by studies such as 2 and 3, which highlight their role in monitoring inflammatory conditions.
- The use of rheumatoid factor and anti-cyclic citrullinated peptide antibodies is also recommended, as they have been shown to be valuable in the diagnosis of rheumatoid arthritis, with anti-CCP being more specific than other parameters 1.
- Additionally, consider HLA-B27 testing, especially if there are signs of spondyloarthropathy, as this can help identify patients who may be at risk for certain rheumatologic conditions.
- Imaging studies, including X-rays and potentially MRI, should be used to evaluate joint inflammation or damage, and musculoskeletal ultrasound can help assess synovitis and effusions. The goal of this comprehensive approach is to ensure optimal care and prevent further complications in patients with VACTERL association, who already have multiple congenital anomalies that can complicate management. A multidisciplinary approach involving rheumatology, orthopedics, and other specialists is essential in managing these patients.