What are Ehlers-Danlos syndromes?
Ehlers-Danlos syndromes, commonly referred to as EDS, represent a group of inherited connective tissue disorders that affect the body's structural framework. These conditions compromise the strength and elasticity of supportive tissues throughout the body.
Connective tissues provide essential support in the skin, tendons, ligaments, blood vessels, internal organs and bones. The fundamental problem in EDS relates to abnormalities in collagen production, processing or structure.
There are currently thirteen recognised subtypes according to the 2017 International Classification. Each subtype displays distinctive clinical features and genetic characteristics.
- Most cases follow an autosomal dominant inheritance pattern
- Classical and vascular forms are considerably rare
- EDS remains a lifelong condition without curative treatment
Symptom management strategies can substantially improve quality of life for those affected by these complex conditions.
Are EDS common?
Hypermobile EDS represents the most common form by a considerable margin. It accounts for approximately 90 per cent of all EDS diagnoses encountered in clinical practice.
The estimated prevalence varies significantly between subtypes:
- Hypermobile EDS affects approximately 1 in 3,100 to 5,000 people
- Classical EDS affects roughly 1 in 20,000 to 40,000 people
- Vascular EDS affects about 1 in 100,000 to 200,000 people
- All other subtypes combined represent very rare occurrences
It’s important to recognise that true prevalence figures remain uncertain. Many cases go undiagnosed due to limited clinical awareness among healthcare professionals.
Some studies suggest the actual numbers may be substantially higher than current estimates indicate. This under-recognition contributes to delayed diagnosis and reduced access to appropriate care services.
Hundreds of thousands of individuals in the UK are believed to live with EDS or related hypermobility spectrum disorders. Accurate epidemiological data continues to be gathered through patient registries and research initiatives.
What are the symptoms of EDS?
Clinical presentations vary considerably between subtypes and individuals. Joint hypermobility allows movement beyond normal anatomical limits and represents perhaps the most widespread manifestation across most forms.
Skin hyperextensibility enables stretching beyond typical boundaries. Tissue fragility results in easy bruising and poor wound healing following minor trauma.
Many patients report chronic musculoskeletal pain. This discomfort is often exacerbated by physical activity or prolonged standing periods.
Autonomic dysfunction may produce postural symptoms including orthostatic intolerance. Upright posture can trigger dizziness, palpitations or fainting episodes in affected individuals.
Gastrointestinal complaints encompass several common presentations:
- Dysmotility and constipation issues
- Reflux and abdominal pain
- Food intolerances and bloating
- Functional bowel disorders
Mast cell activation symptoms resemble allergic reactions in some patients. Fatigue of varying severity affects the majority of sufferers and may significantly impair daily functioning.
The vascular subtype presents particular concern due to arterial, intestinal or uterine wall fragility. This creates risk of life-threatening rupture even without significant traumatic injury occurring.
What are the main types of EDS?
The current classification encompasses thirteen distinct subtypes according to the 2017 International Classification framework. Each one displays characteristic clinical features and genetic basis.
Classical EDS involves marked skin hyperextensibility, widened atrophic scarring and joint hypermobility.
Hypermobile EDS remains the most prevalent form overall. It presents predominantly with joint instability, chronic pain and systemic manifestations including autonomic dysfunction. No causative gene has yet been identified for this common variant.
Vascular EDS carries the most serious prognosis due to fragile arterial and organ walls. Patients display thin translucent skin and characteristic facial appearance resulting from type III collagen defects.
Other recognised subtypes include:
- Classical-like EDS lacking atrophic scarring
- Arthrochalasia EDS with congenital hip dislocation
- Dermatosparaxis EDS presenting extreme skin fragility
- Kyphoscoliotic EDS combining spinal curvature with eye fragility
Less common variants include spondylodysplastic, musculocontractural, myopathic, periodontal, cardiac-valvular and brittle cornea syndromes. Each displays distinctive combinations of skeletal, dental, ocular or cardiovascular involvement.
How are EDS treated?
No disease-modifying therapy exists for any EDS subtype. Management focuses exclusively on symptom relief and complication prevention throughout the patient journey.
Pharmacological approaches include tailored analgesia for pain control. Non-steroidal anti-inflammatory drugs require careful monitoring due to gastrointestinal risks in susceptible individuals.
Medication for coexisting conditions may be prescribed based on individual presentation:
- Postural orthostatic tachycardia syndrome
- Mast cell activation syndrome
- Gastrointestinal motility disorders
- Chronic pain conditions
Physiotherapy programmes emphasise low-impact strengthening exercises. These stabilise hypermobile joints without causing excessive strain during rehabilitation sessions.
Bracing and splinting provide external joint support during activities or sleep. This reduces dislocation frequency and improves functional stability for patients.
Podiatry input with custom orthotics improves foot alignment. Lower limb pain reduction follows through improved biomechanics and weight distribution.
Surgical intervention remains minimally indicated; owing to tissue fragility complicating wound healing. Procedures addressing dislocations or hernias may occasionally become necessary despite inherent surgical risks.
Genetic counselling assists families in understanding inheritance patterns. Reproductive implications receive particular attention for those considering future pregnancies.
How are EDS managed day to day?
Daily living adaptations centre on energy conservation and joint protection strategies. Safety modifications throughout home environments reduce accident risk significantly.
Activity pacing helps prevent symptom exacerbation. Alternating exertion periods with rest intervals maintains sustainable energy levels throughout the day.
Joint-friendly techniques during manual tasks reduce injury risk. Ergonomic equipment supports proper posture during work or leisure activities requiring sustained positioning.
Nutritional strategies address gastrointestinal difficulties through practical adjustments:
- Smaller frequent meals rather than three large portions
- Adequate hydration throughout waking hours
- Dietary adjustments based on specific intolerances
- Avoidance of trigger foods (where identified)
Sleep optimisation requires comfortable positioning with supportive bedding. Pillows or mattresses accommodating unusual body contours improve rest quality considerably.
Mental health support becomes increasingly important given the psychological burden of chronic illness. Cognitive behavioural therapy proves beneficial for pain coping strategies and emotional regulation skills.
Patient organisations including Ehlers-Danlos Support UK provide valuable peer networks. Educational resources and advocacy assistance supplement formal medical care pathways.
Regular monitoring by appropriately trained healthcare professionals ensures early detection of complications. Timely intervention occurs when needed according to changing clinical requirements.
Which medical specialist treats EDS?
Diagnostic assessment and ongoing management for EDS typically involve multi-disciplinary teams. Initially, co-ordination occurs through primary care services for hypermobile and classical-like subtypes.
Rheumatologists possess expertise in joint-related manifestations specifically. They coordinate referral networks for complex presentations requiring specialised input from other disciplines.
Clinical genetics services investigate genetically confirmed subtypes including vascular, classical and rare variants. Molecular testing becomes available where appropriate laboratory infrastructure exists.
Tertiary centres such as the Royal National Orthopaedic Hospital in Stanmore provide assessment. Severe cases exceeding routine primary care capabilities receive specialist evaluation here.
Additional specialist involvement encompasses multiple disciplines:
- Physiotherapists for rehabilitation planning
- Occupational therapists for adaptive equipment provision
- Cardiologists for vascular surveillance in at-risk subtypes
- Gastroenterologists for persistent digestive symptoms
- Psychologists for mental health support needs
General practitioners serve as central coordinators ensuring continuity of care. They facilitate timely referral pathways according to clinical need and local protocol requirements.
References
- Ehlers-Danlos Support UK. The Ehlers-Danlos syndromes (EDS) GP toolkit. London: Ehlers-Danlos Support UK, 2018 (reviewed 2023). Available at: gptoolkit.ehlers-danlos.org
- NHS. Ehlers-Danlos syndromes. Available at: https://www.nhs.uk/conditions/ehlers-danlos-syndromes
- The Ehlers-Danlos Society. What is EDS? Available at: https://www.ehlers-danlos.com/what-is-eds
- Malfait F, et al. The Ehlers-Danlos syndromes: state of the art on clinical practice guidelines. Orphanet Journal of Rare Diseases. 2018;13(1):215.
- Right Decisions (NHS Scotland). Suspected Ehlers–Danlos Syndrome. Available at: https://www.rightdecisions.scot.nhs.uk
