DISEASE SCANNER
Global Incurable Diseases Tracker
Ehlers-Danlos Syndrome
A group of inherited disorders affecting connective tissues, primarily skin, joints, and blood vessel walls. Thirteen subtypes with varying severity. Hypermobile type most common; vascular type most dangerous.
2.5M
21
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Clinical evaluation
- 2Genetic testing
- 3Skin biopsy (rarely)
- 4Echocardiogram
- 5Imaging
- 62017 International Classification criteria
Prognosis
Variable by type. Hypermobile type compatible with normal lifespan but chronic pain. Vascular type life-threatening (arterial rupture). Most manage well with proper care. Regular monitoring essential for vascular and classical types.
Prevention
- Genetic counseling
- Preimplantation genetic diagnosis
- Avoid contact sports (vascular type)
- Regular cardiovascular screening
- Preventive measures based on type
Research Status
Symptomatic management. Celiprolol for vascular EDS. Physical therapy and pain management. Genetic testing for diagnosis. Multidisciplinary care essential. Research into underlying mechanisms ongoing.
Affected Countries
Sources
- https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome
- https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome
- https://www.hematology.org/education/patients
- https://www.ncbi.nlm.nih.gov/books
- https://rarediseases.org/rare-diseases
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.