FFinalistSouthampton · 2027
Child health
AKT · Child health/Genetic syndromeslow yield

Ehlers-Danlos syndrome

Collagen synthesis defect (multiple subtypes)

Overview

A group of heritable connective-tissue disorders of collagen, causing joint hypermobility, skin hyperextensibility and tissue fragility. The vascular (type IV) subtype is dangerous — arterial/organ rupture.

Recognise

  • Joint hypermobility (recurrent dislocations), chronic joint pain
  • Skin: hyperextensible, soft, easy bruising, poor wound healing, atrophic scars
  • Vascular type: thin translucent skin, arterial/intestinal/uterine rupture

Red flags

  • Vascular (type IV) EDS — spontaneous arterial or hollow-organ rupture

Differentials & how to tell them apart

Marfan syndromeaortic root + lens dislocation, fibrillin — EDS centres on skin/joint fragility
Joint hypermobility syndromehypermobility without skin/vascular fragility
Osteogenesis imperfectafractures + blue sclerae

Investigations

Clinical (Beighton hypermobility score) + genetic testing for subtype (esp. COL3A1 in vascular type).

Management

  1. 1Supportive: physiotherapy, joint protection, pain management, skin/wound care.
  2. 2Vascular (type IV): cardiovascular surveillance; avoid trauma; genetic counselling.
Supportive (physio, analgesia) — no cure; protect joints
Vascular subtype surveillance — cardiovascular monitoring

Key points

The vascular subtype is the one that kills (arterial rupture) — translucent skin and a family history of sudden vascular events are clues.

Monitor & prognosis

Joints, skin, and (vascular type) arteries; genetic counselling.

Variable; vascular type carries serious risk.

Source: Clinical genetics; Beighton score