DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Ehlers-Danlos Syndromes (EDS)

MODERATE

A group of heritable connective tissue disorders affecting collagen structure or processing. Thirteen subtypes with varying severity. Most common: hypermobile EDS (hEDS) and classical EDS. Vascular EDS (vEDS) most dangerous due to arterial/organ rupture risk.

Global Affected

500.0K

Countries

15

Symptoms

Joint hypermobility
Skin hyperextensibility
Easy bruising
Poor wound healing
Chronic pain
Fatigue
Gastrointestinal issues
Cardiovascular features (varies by type)

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Hypermobile and classical types: normal lifespan with proper management. Vascular type: reduced lifespan (median 48 years) due to arterial and organ rupture. Regular cardiovascular monitoring essential.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Supportive care and monitoring. Celiprolol reduces vascular complications in vEDS. No disease-modifying therapy. Avoid contact sports and invasive procedures. Multidisciplinary management essential.

Affected Countries

AustraliaBrazilCanadaChinaGermanySpainFranceUnited KingdomHungaryIndonesiaIndiaItalyJapanSouth KoreaUnited States

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.