Natural history of spinal deformity in a patient with Ehlers-Danlos syndrome: case report with 20 year follow-up

Abstract

BACKGROUND CONTEXT: Scoliosis can present in patients with Ehlers-Danlos syndrome (EDS) and can be surgically treated despite possible complications. The long-term natural history of the progression of spinal deformity, particularly scoliosis, and associated complications in EDS patients remains relatively unknown. PURPOSE: To assess the progression of spinal deformity and associated complications in a patient with EDS, who was not surgically treated for her spine condition and was followed up for 20 years. STUDY DESIGN: A case report. METHODS: A 9-year-old female with EDS presented to the orthopedic clinic with scoliosis and mild thoracic hyperkyphosis. The patient was followed up for a 20-year period. Progression of her spinal deformity and associated complications were noted. RESULTS: The patient's curve progressed rapidly in the initial follow-up period an 83 degrees worsening from the age of 9 to 10 years. Because she refused surgical intervention, her spinal deformity continued to progress. As such, by the age of 29 years, she presented with 115 degrees from T9 to L4 with severe hyperkyphosis. The patient eventually developed respiratory compromise and diminished functional capacity. CONCLUSIONS: In patients with EDS, scoliosis may progress rapidly and unrelentingly, and if not treated early may lead to respiratory compromise. Close follow-up of such patients is imperative, and appropriate management should be sought to prevent potentially fatal morbidities.