Ehlers Danlos Syndrome
Ehlers Danlos Syndrome (EDS) is subdivided into several subtypes (types I-VIII) with different inheritance patterns and collagen gene mutations.
The most common and/ or significant EDS types (I-IV and VI) are described below.
- Prevalence ~1/5000
- EDS type III (hypermobility) is the most common and is usually mild
- EDS type IV is uncommon but is a serious disorder
Patients may present with:
- Skin: fragility, easy bruising, thin atrophic scars
- Joints: hypermobility, premature osteoarthritis.
- Intestinal perforation; bladder, uterine and arterial rupture (type IV)
Classical EDS (types I, II)
- Skin: soft, thin atrophic scars, bruising
- Joints: hyperextensible
- Varicose veins
Hypermobility (type III)
- Skin: soft
- Joints: hyperextensible, recurrent dislocations
Vascular (type IV)
- Subcutaneous fat loss
- Pinched nose
- Thin lips
- Hollowed cheeks
- Skin thin and translucent, veins often visible
- Limited large joint hyperextensibility
Kyphoscoliosis (type VI)
- Skin: soft and hyperextensible
- Joints: hypermobile
- Muscle hypotonia
- Aortic root dilatation (Types I, II 33%; type III 20%)
- Premature osteoarthritis
- Premature labour, post-partum haemorrhage (types I, II)
- Optic globe rupture (type VI)
EDS type IV
- Uterine, bowel and arterial rupture
- Complications occur in at least 25% of individuals after 20 years of age and 80% before 40 years of age.
- Arterial repair not always technically possible.
- Shortened life expectancy, median 48 years.