Ehlers-Danlos syndrome
Background
- Hereditary connective tissue disorder
- Six types: Classic, hypermobility, vascular, kyphoscoliosis, arthrochalasia, dermatosparaxis
- Causes increased risk of:
- Thoracic and abdominal aortic aneurysm
- Mitral valve prolapse
- Spontaneous pneumothorax
- Myopia and retinal detachment
- Premature degenerative arthritis
Clinical Features
- Type I and II: Classical
- Hyperextension of the joints and skin
- Easy bruising and skin fragility
- Congenital dislocations of the hips, recurrent dislocations of other joints
- Spondolithesis
- Joint effusions
- Club foot
- Type III: Hypermobility
- Similar to Classic, however less skin involvement
- Type IV: Vascular
- Colonic perforation
- Ruptured arteries
- Uterine rupture during pregnancy
- Severe and frequent wound dehiscence after surgery
- Only type that significantly affects mortality
- Type VI: Kyphoscoliotic
- Fragility of the ocular globe
- Marked joint hyperextension
- Severe scoliosis
- Type VIIA and VIIB: Arthrochalasia
- Profound joint hyperextension
- Moderate short stature
- Type VIIC: Dermatosparaxis
- Minimal joint involvement
- Primarily affects the skin and fascia
Differential Diagnosis
- Marfan syndrome
- Cutis laxa
- Loeys-Dietz syndrome
- Osteogenesis imperfecta
- Larsen Syndrome
- Stickler syndrome
- Arteria tortuosity syndrome
Evaluation
Management
- Cardiac evaluation to screen for valvular disease, vascular disease, and aortic aneurysm
- Ophthalmologic evaluation to screen for myopia, retinal detachment, and glaucoma
- Monitoring of skin fragility, wound healing, easy bruising