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Ehler- Danlos Syndrome ( EDS ) quick revision card

Ehler Danlos Syndromes – Genetic connective tissue disorders which affects collagen formation and function with clinical manifestations which include skin hyperelasticity , hypermobility of joints , atrophic scarring , fragility of blood vessels , abnormal wound healing. Inheritance may be autosomal dominant or autosomal recessive and a large majority may present as de-novo mutation. New International classification was published in 2017 which recognises 13 subtypes that are caused by pathogenic variants in 19 different genes which code for fibrillar collagens , collagen modifying proteins or processing enzymes
( classification has evolved over time )

 

three subtypes ( classical EDS ie cEDS , vascular vEDS & molecularly unsolved hypermobile hEDS ) account for > 90 % of all cases of EDS in the UK – EDS National Diagnostic Service was commissioned in 2009 joint hypermobility is very common and thought to happen in 10 % to 30 % worldwide the best guess currently estimates the prevalence between 1 in 2500 to 1 in 5000

 

heritable mutation in collagen synthesis and / or processing ie the quality of collagen is affected in every part of body mutations affect the collagen which is integral to every body system from skin to the integrity of the vasculature – ie the symptoms of the disease can be variable and widespread hEDS is now considered a multi-system disorder

 

skin hyperextensibility and hyperflexible jts ( most common presenting features ) joint symptoms ( pain dislocations , subluxations , hypermobility ) repeated subluxation & dislocations can cause early OA / chronic pain hypermobility can be measured using a goniometer and Beighton Score skin or tissue fragility ( easy bruising -obtain a full bleeding hx ) repeated attendances to a/e with ( poor wound healing ) , smooth or velvet-like-texture of skin , atrophic scars after wound healing both hollow and solid organs can be affected ( collagen dysfunction ) and present with spontaneous & traumatic rupture , perforation , pneumothorax , vessel rupture , , hernias , rectal prolapse , aneurysms consider in people presenting with non-specific and medically unexplained symptoms ( autonomic dysfunction as POTS , fatigue , exhaustion , CFS , fibromyalgia , chronic pain syndromes , IBS , functional dyspepsia ) children can also present with EDS with abdominal symptoms , growing pains , neurodevelopmental issued as hyperactivity , inattention , dyspraxia , ASD , sleep and food issues , emotional problems , hypersensitivity and anxiety ask about other family members being affected ( hereditary disorders )

 

no current genetic test is available to confirm EDS – diagnosis is made clinically consider in patients with unusual symptoms / normal basic investigations / they do not respond as 
expected to usual treatments once clinically suspected -for specific subtype level diagnosis a geneticist should be consulted EDS is a complex diagnosis and terminology/ scoring can be challenging – if in doubt seek help from a rheumatologist with interest in hypermobility a delay in diagnosis (& misdiagnosis ) is common -it has been shown that a mean 14 yrs elapses between the 1st clinical manifestation and the actual diagnosis a diagnosis of Hypermobility spectrum disorder ( HSD ) can be considered for those with some but not all features of hEDS ( absence of jt hypermobility doesn’t exclude EDS ) consider using the Beighton score ( for hEDS ) a score > 5 indicates a generalised hypermobility see the linked document JUST GAPE – an aide memoire to identify hEDS

RESOURCES / LINKS

.JUST-GAPE document ( not validated ) JustGAPE-final.pdf (ehlers-danlos.org)

Mountain States Regional Genetic Network – links to various useful documents helpful in primary care including webinar links Ehlers-Danlos Syndrome (EDS) Algorithm and Resources for Primary Care – Mountain States GeneticsMountain States Genetics

hEDS diagnostic criteria from The International Consortium on Ehler-Danlos Syndromes & Related Disorders hEDS-Dx-Criteria-checklist-1.pdf (ehlers-danlos.com)

Ehler-Danlos Society -an excellent resource for both patients and health care professionals Professionals – The Ehlers Danlos Society: The Ehlers Danlos Society (ehlers-danlos.com)

EDS GP Toolkit – has excellent links for further reading The Ehlers-Danlos syndromes (EDS) GP Toolkit

REFERENCES

  1. The EDS GP Toolkit The Ehlers-Danlos syndromes (EDS) GP Toolkit
  2. Miklovic T, Sieg VC. Ehlers Danlos Syndrome. [Updated 2021 Jul 10]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK549814/
  3. Ehler-Danlos syndrome – a commonly misunderstood group of conditions Glenda Sobey Clinical Medicine 2014 Vol 14, No 4: 432–6 CMJ1404_CME_Sobey.indd (rcpjournals.org)
  4. Ghali NSobey GBurrows NEhlers-Danlos syndromes doi:10.1136/bmj.l4966 Ehlers-Danlos syndromes | The BMJ

 

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