Overview
Ehlers-Danlos syndrome (EDS) encompasses a group of hereditary disorders affecting connective tissues. These tissues provide strength and flexibility to various body structures, including skin, joints, and blood vessels. EDS manifests in different ways, but common features include overly flexible joints and stretchy, fragile skin.
Types of Ehlers-Danlos syndrome (EDS)
- Hypermobile EDS (hEDS):
- Most common type.
- Symptoms: Joint hypermobility, soft skin, easy bruising.
- Classical EDS (cEDS):
- Joint hypermobility, skin fragility, atrophic scars.
- Vascular EDS (vEDS):
- Severe form with fragile blood vessels.
- Risk of arterial rupture.
- Kyphoscoliotic EDS (kEDS):
- Associated with muscle weakness and scoliosis.
- Other rare types: Arthrochalasia EDS, dermatosparaxis EDS, etc.
Causes of Ehlers-Danlos syndrome (EDS)
- Genetic mutations affecting collagen production.
- Inherited (family history) or spontaneous mutations.
Risk Factors of Ehlers-Danlos syndrome (EDS)
- Family history of EDS.
- Genetic predisposition.
- No specific lifestyle-related risk factors.
Symptoms of Ehlers-Danlos syndrome (EDS)
1. Overly flexible joints.
2. Stretchy, velvety skin.
3. Easy bruising.
4. Slow wound healing.
5. Joint pain.
6. Fatigue
7. Specific features in vEDS: Thin nose, thin upper lip, translucent skin.
Preventions of Ehlers-Danlos syndrome (EDS)
- No direct prevention strategies.
- Early diagnosis and management are crucial.
Diagnosis of Ehlers-Danlos syndrome (EDS)
- Physical examination (joints, skin).
- Genetic testing (identify specific EDS type).
- Echocardiogram (for cardiac valvular EDS).
Treatment for Ehlers-Danlos syndrome (EDS)
- No cure; focus on symptom management.
- Pain relief (acetaminophen, NSAIDs).
- Joint repair surgery (severe cases).
- Physical therapy to strengthen muscles.
- Hydration and proper nutrition.
When to seek medical attention ?
- If you experience joint instability, skin changes, or unusual bruising.
- Consult a rheumatologist, geneticist, or dermatologist.
