Genetic Disorders
Ehlers-Danlos Syndrome
엘러스단로스증후군
Heterogeneous connective tissue disorders of collagen synthesis (13 subtypes)
- How common
- 1 in 5,000–20,000 (overall)
- Typical age
- Pediatric/young adult
What is it?
Mutations in collagen genes (COL5A1/A2 classical, COL3A1 vascular) → defective collagen → weak tissue.
Commonly affected: Skin, joints, vessels, uterus, bowel
How it develops
- Collagen gene mutationCOL5A1/A2 (classical), COL3A1 (vascular)
- Defective collagenAbnormal fibril assembly
- CT weaknessSkin + ligaments + vessel walls fragile
- Joint hypermobility + vessel ruptureFrequent dislocations, arterial rupture (vascular type)
Symptoms
- Vessel/bowel rupture (vEDS)Type IV vascular EDS - emergency
- Joint hypermobilityBeighton score ≥5/9
- Easy bruising, poor healingThin "cigarette paper" scars
- Recurrent dislocationsShoulder, patella, TMJ
- Hyperextensible skinSoft, stretchy skin
How it is examined
- Beighton score9-point hypermobility scale
- Skin extensibility>1.5 cm pinch on neck
- Genetic testingConfirm COL3A1 (vascular) etc.
Imaging
Mainly clinical. Skeletal films for joint assessment.
- Joint subluxation
- Scoliosis
For vascular type, MRA/CTA to assess aneurysms.
- Aneurysms
- Arterial dissection
Non-surgical care
- Joint protection + PTStrengthening for joint stability
- Vitamin CCollagen synthesis support (debated)
- AnalgesiaManage chronic EDS pain
- vEDS: celiprololBeta-blocker reduces arterial rupture risk
Conservative options are generally tried first. Medications listed here can have side effects — discuss them with your prescriber.
When surgery is considered
Joint instability, vascular/bowel complications
Procedures that may be discussed
- Joint stabilization (limited)
- Emergency vascular repair
- Uterine bleeding/rupture care
Outlook
Classical type: normal lifespan. Vascular type: mean survival 48 years.