Instabilidade articular em portador de Síndrome de Ehlers-Danlos - relato de caso

Abstract

Ehlers-Danlos syndrome (EDS) is a rare inherited condition that affects the connective tissue present in the skin, joints, and blood vessels with great variability in clinical presentation. This disease can be underdiagnosed, especially in public health systems. We report the case of a 31year-old female carrier with recurrent joint dislocations, diplopia, and dysphagia. Genetic tests identified a pathogenic variant in the GARS1 gene associated with hereditary neuropathies and uncertain variants in the TNXB and CHRNA1 genes, making the clinical picture complex. The patient is being monitored at the Orthopedics, Medical Genetics and Rehabilitation Services of our institution, treated conservatively, and evolved with partial improvement of symptoms. This report reinforces the importance of detailed genetic diagnosis and integrated therapeutic approach to EDS, given the complexity and severity of its systemic manifestations. Continuous follow-up is essential in the search for improving the prognosis and quality of life of these patients.