Ehlers-Danlos Syndrome
Also known as: EDS, Ehlers-Danlos Syndromes
Ehlers-Danlos syndromes are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, or processing of collagen. They are characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
Ehlers-Danlos syndrome happens when the 'glue' (collagen) that holds our body together doesn't work properly. This makes joints extra bendy and skin extra stretchy. While there's no cure, doctors can help manage symptoms and prevent injuries.
Signs & Symptoms
- Hypermobile joints
- Stretchy, fragile skin
- Easy bruising
- Chronic pain
- Fatigue
- Digestive problems
- Dizziness and fainting
- Poor wound healing
- Joint dislocations
- Heart valve problems
Treatment Options
Physical therapy
HIGHLY EFFECTIVEPain management
MODERATELY EFFECTIVEJoint stabilization surgery
MODERATELY EFFECTIVECardiovascular monitoring (vascular EDS)
HIGHLY EFFECTIVEDiagnosis
- Clinical examination using diagnostic criteria
- Beighton score for hypermobility
- Genetic testing
- Skin biopsy
- Echocardiogram
- Family history assessment
History
EDS is named after Edvard Ehlers and Henri-Alexandre Danlos who independently described the condition in the early 1900s. The classification has evolved significantly, with the current 2017 nosology recognizing 13 subtypes based on clinical features and genetic findings.
Recent Breakthroughs
Gene therapy research advances
Early-stage research into gene therapy approaches for vascular EDS shows promising safety profiles.
hEDS genetic research
Large-scale genomic studies identify potential genetic contributors to hypermobile EDS.