PROPOSAL FOR PHYSIOTHERAPEUTIC APPROACH IN PEOPLE DIAGNOSED WITH EHLERS-DANLOS SYNDROME

Tue, 11 Feb 2025 00:00:00 -0600

Ehlers-Danlos Syndrome (EDS) is defined as a heterogeneous group of inherited disorders associated with connective tissue caused by abnormal collagen synthesis. Among its main symptoms, muscle weakness, increased joint range of motion, and dislocations and subluxations stand out. Under these considerations, and in accordance with the Physiotherapeutic Care Process that this entails, including some phases such as examination, diagnosis and treatment, some principles are proposed to take into account during the clinical approach to the person diagnosed with EDS. Along with this, other essential strategies are also proposed during the approach, such as the education processes and recommendations provided for the people served, using therapeutic exercise and physical activity as key elements for maintaining health. As part of the particularities of the symptoms associated with EDS, and ensuring the affinity of physiotherapy interventions, pain management in this population is also discussed.

Case report: first diagnosis of VEXAS Syndrome in Costa Rica

Mon, 07 Apr 2025 00:00:00 -0600

Introduction: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is an autoinflammatory condition caused by somatic mutations in the UBA1 gene on the X chromosome. Materials: We present the case of a 65-year-old male with relapsing polychondritis admitted with severe systemic inflammation, fever, deep vein thrombosis, and myelodysplasia. Infectious and rheumatologic causes were ruled out. Results: Genetic sequencing confirmed a UBA1 mutation. Conclusion: Steroid treatment led to rapid clinical improvement and decreased inflammatory parameters.

Revista Médica de la Universidad de Costa Rica

PROPOSAL FOR PHYSIOTHERAPEUTIC APPROACH IN PEOPLE DIAGNOSED WITH EHLERS-DANLOS SYNDROME

Case report: first diagnosis of VEXAS Syndrome in Costa Rica