Overview
The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders, whose manifestations consist of joint hypermobility, skin hyperextensibility, and tissue fragility. There are 13 subtypes of EDS.
The subtype discussed here will be hypermobile EDS, which is autosomal dominant.
Epidemiology
- Hypermobile EDS is the most common subtype
- Affects women more
- Inherited in an autosomal dominant subtype
Presentation
- Stretchy and fragile skin
- Joint hypermobility
- Joint pain after exercise or inactivity
- Recurrent joint dislocation
- Easy bruising
- Autonomic dysfunction leading to dizziness and syncope
- Pelvic organ prolapse
- Gastro-oesophageal reflux disease
- Aortic regurgitation
- Mitral valve prolapse
- Aortic dissection
Differential Diagnoses
Marfan’s syndrome
- Family history of sudden collapse, aortic aneurysms, aortic dissection and valve pathology present
- Marfanoid habitus present
- Lens dislocation present
Fibromyalgia
- Widespread body pain for at least 3 months
- Fatigue
- Waking unrefreshed
- Cognitive symptoms
Chronic fatigue syndrome
- Persistent fatigue and other associated symptoms for >6 months with no other medical explanation
Investigations
Hypermobile EDS is diagnosed clinically
- The Beighton 9-point scoring system is used to assess joint hypermobility
- A score of 5 or more indicates generalised hypermobility
Investigations for other complications should be considered:
- Full blood count and clotting screen for bruising:
- These are normal in hypermobile EDS
- Tilt-table test for postural orthostatic tachycardia syndrome:
- Tachycardia in the absence of orthostatic hypotension is seen
- X-ray spine if there is spinal pain or scoliosis on examination:
- Scoliosis may be seen
- Spondylolisthesis may be seen
- Echocardiogram:
- May show mitral valve prolapse
- May show aortic root dilation
- Gastrointestinal imaging and endoscopy:
- Absence of other diagnoses confirms GI symptoms are related to EDS
Management
Management involves pain management, physiotherapy, and cognitive behavioural therapy.
Patient Advice
Patients should avoid contact sports due to the risk of injury to soft tissue and bone. Demanding occupations may need to be avoided e.g. manual labour.
Complications
- Degenerative arthritis
- Bleeding in surgery
- In pregnancy
- Joint and spinal pains
- Premature rupture of membranes
- Resistance to local anaesthetics
- Pelvic floor problems
Prognosis
- Lifespan is usually normal
- Many patients with hypermobile EDS have significant morbidity with joint pains
