From the Research
High plasminogen activity is not a reliable indicator for hypermobile Ehlers-Danlos Syndrome (hEDS). Diagnosis of hEDS relies primarily on clinical evaluation using specific criteria that assess joint hypermobility, skin features, and other systemic manifestations rather than laboratory biomarkers. Plasminogen is a protein involved in blood clotting and tissue remodeling, and while some research has explored various biomarkers in connective tissue disorders, plasminogen activity has not been validated as a diagnostic marker for hEDS 1.
Key Points for Diagnosis
- The diagnosis of hEDS typically requires assessment using the Beighton score for joint hypermobility, evaluation of skin characteristics (such as hyperextensibility and abnormal scarring), family history, and exclusion of other connective tissue disorders through clinical examination and sometimes genetic testing for related conditions.
- The 2017 International Classification of the Ehlers-Danlos syndromes provides the current diagnostic criteria for hEDS and hypermobility spectrum disorders 2.
- Management of hEDS consists of a care team responsible for surveillance of major and organ-specific complications, integrated physical medicine, and rehabilitation, with no specific medical or genetic therapies available for any type of EDS 1.
Clinical Evaluation and Management
- Patients with suspected hEDS should undergo a comprehensive clinical evaluation, including assessment of joint hypermobility, skin features, and other systemic manifestations.
- Consultation with a geneticist, rheumatologist, or specialist in connective tissue disorders is recommended for proper evaluation using the current diagnostic criteria established by the International Consortium on EDS.
- Management should focus on symptom relief, prevention of joint injury, and patient education, with consideration of physical and occupational therapy, psychological support, and self-management strategies 2, 3.