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.

Epidemiology

• 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

Clinical presentation

Patients may present with:

• Skin: fragility, easy bruising, thin atrophic scars
• Joints: hypermobility, premature osteoarthritis.
• Intestinal perforation; bladder, uterine and arterial rupture (type IV)

Physical Signs

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
• Scoliosis

Complications

• 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.