The Importance of Early Diagnosis of Ehlers-Danlos Syndrome – A Case Study and Public Health Perspective

Abstract

Ehlers-Danlos Syndrome (EDS) is a rare, inherited connective tissue disorder, frequently diagnosed with significant delay due to fragmented care and lack of coordination among specialists. We present the case of a 35-year-old woman whose EDS diagnosis was established 17 years after the onset of symptoms. Despite numerous specialist consultations, the focus on isolated symptoms without a holistic approach led to prolonged diagnostic neglect. This case highlights the crucial role of the family physician as a care coordinator, integrating clinical data from various fields and adopting a holistic view of the patient. Early detection of rare diseases such as EDS is vital for public health—it shortens the time to diagnosis, improves patient quality of life, and optimizes healthcare resource utilization. Our analysis underscores the urgent need for systemic solutions: better care coordination, development of integrated medical data tools, and enhanced education of physicians in rare diseases, especially at the primary care level.