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VATER association: is it recognised by rheumatologists?
1Division of Rheumatology, Hospital for Special Surgery, Weill Medical College of Cornell University, New York, New York, USA. derkan@pol.net
Clinical Rheumatology
|May 11, 2001
Summary
VATER association, a rare congenital condition, can manifest in adulthood with chronic low back pain and vertebral anomalies. Recognizing these musculoskeletal signs is crucial for accurate diagnosis beyond spondylarthropathy.
Area of Science:
- Rheumatology
- Pediatric Genetics
- Developmental Biology
Background:
- Spondylarthropathy is often considered in adults with chronic low back pain and fused lumbar vertebrae.
- VATER association (Vertebral defects, Imperforate anus, Tracheoesophageal fistula with esophageal atresia, Renal anomalies, and Limb abnormalities) is typically diagnosed in infancy.
Observation:
- An adult patient presented with chronic low back pain, limited lumbar motion, and fused lumbar vertebrae, initially suggesting spondylarthropathy.
- Key differentiating factors included the absence of sacroiliitis, specific vertebral defects, and a history of imperforate anus, pointing towards VATER association.
Findings:
- Musculoskeletal anomalies in VATER association can be subtle or overlooked during infancy, especially when focusing on life-threatening conditions.
- These anomalies, such as vertebral defects and spinal fusion, may become clinically apparent in adulthood, presenting as chronic back pain.
Implications:
- Rheumatologists evaluating adult back pain with vertebral anomalies should consider VATER association in their differential diagnosis.
- Awareness of the diverse adult manifestations of VATER association is essential for timely and accurate diagnosis.
- Early recognition of musculoskeletal findings in VATER association can improve long-term patient management and outcomes.