Ehlers-Danlos syndrome (EDS)  

Outline

Background

• Estimated prevalence in UK (70 million): 300,000 have EDS or hypermobility diagnosis, likely undiagnosed [2]; approximately 1/200 (0.5%)

• Genetic condition with variable inheritance (can be autosomal dominant, recessive; or a new mutation)

• Complications include: Aortic Dissection, Scoliosis, Chronic pain, OA, hernias & colonic perforation, uterine rupture; mortality is reduced in the types with an effect on major blood vessels

Assessment

Presentation

• Joint instability, pain and falls

• Fatigue, constipation, reflux, urinary incontinence

• Bleeding- heavy menstrual bleeding, bruising

Examination

• Joint hypermobility: thumbs, knees and elbows

• Hyper-elastic skin

• Mitral valve prolapse

Investigations

• Rule out differentials- ix normal: baseline bloods, XRs

• Genetic testing

Diagnosis

Diagnostic criteria: elastic skin/ hypermobility on the Beighton criteria + genetic testing

Differentials: Marfan's Syndrome, Chronic Fatigue Syndrome (CFS), Fibromyalgia, Depression

Classification: 13 subtypes as per effect on 19 genes

Management

Chronic

• Ehlers Danlos MDT: PT, OT, Orthotics, analgesia

• CBT

• Genetic counselling

• Patient support groups

• Surveillance: ECHO, aorta US

References

1. https://www.ehlers-danlos.org/

2. https://hansard.parliament.uk/commons/2024-05-22/debates/2DD058E5-35D0-4710-9D73-BC269DD2ED7B/Ehlers-DanlosSyndromeAndHypermobilitySpectrumDisorders

3. Ehlers-Danlos syndromes - NHS 

Links

• Body System: Musculoskeletal, Nervous system

• Specialty: Rheumatology