What are HSD and EDS?
May is EDS and HSD Awareness month, so let’s have a chat about a series of disorders that affect way more people than you realise, maybe even you!
Ehlers Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD) are heritable (meaning genetically inherited) connective tissue disorders.
They affect the structure and efficacy of connective tissues like skin, blood vessels, muscles, and bone. There are currently 14 genetically determined subtypes of EDS, with Hypermobile Ehlers Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorder (HSD) both as yet genetically undefined. As both hEDS and HSD are the most common types of EDS, accounting for around 80% of cases, they will be our focus here.
Connective tissue disorders also include autoimmune conditions like Lupus and Scleroderma, as well as other heritable condtions like Marfan Syndrome and Osteogenesis Imperfecta
Symptoms of Connective Tissue Disorders (CTD)
While every subtype has specific symptoms, broadly speaking, connective tissue disorders cause:
Widespread musculoskeletal pain
Hypermobile/unstable joints
Fatigue
hEDS and HSD also include (the current full criteria is linked below):
Mildly hyper extensible skin (beyond normal stretchy skin)
Unexplained striae (stretch marks)
Atrophic scarring (indented scars)
Recurring abdominal hernias
The current criteria also includes less common conditions like Mitral Valve Prolapse, Aortic Root Dilation (Aneurysm), and the hyper common (even in non EDS populations) Piezogenic papules (fatty hernias in the feet).
Other frequently co occuring condtions include Mast Cell Activation Disorders (eg. MCAS and Mastocytosis), Dysautonomia (eg. POTS), Asthma, Fibromyalgia, Anxiety, Depression, and Neurodivergence.
There is currently a lot of research underway in the field of connective tissue disorders, including the overlap of co occuring conditions.
What’s the difference between hEDS and HSD?
(Clippy pops up) “Looks like you’ve waded into drama. Would you like some help??”
Welcome to the controversy lol. So, in 2017, The Ehlers Danlos Society and an international team of specialists worked together to create a new criteria for the assessment of hEDS, and created the “not lesser” classification of HSD. The criteria was intended for “research purposes” and not diagnosis. So naturally the new criteria was used universally used to diagnose hEDS and exclude those that didn’t fit the new criteria to HSD, where they are treated as less. Yes, they absolutely are treated as less, I should know, I have “HSD”
What you’ll notice if you read literally any research paper on hEDS and HSD since 2017, is that HSD and hEDS are basically the same, with no difference in severity or co occuring conditions. In fact, some of the criteria from the 2017 nosology is so broad, that it fits large swathes of the general public too.
Thankfully, the criteria is being reassessed this year, with the results to be released in December of 2026. A great many people are waiting eagerly/anxiously to see what they are.
Who should you see if you think you have a connective tissue disorder?
First and foremost, your primary care provider, which here in Australia is your GP. Most GP’s won’t diagnose hEDS or any other condition, they all want to send you onto a specialist. The probelm is, there isn’t a SINGLE specialst for CTD’s, as they are WHOLE BODY conditions. GP’s may suggest you see a Rheumatologist (they treat rheumatic conditions like arthritis and Lupus), but in my experience, and that of many people I’ve spoken to here in Oz, Rheumatologists aren’t particularly well versed in non genetic EDS.
Ironically, Geneticists seem to be the best bet (I was diagnosed by a Geneticist). They can assess you, as well do genetic testing for the rarer types if need be. Be warned, the public wait for Geneticists is LONG, like two years or more. Its even six months for private patients.
What awareness am I hoping for this year?
Better criteria, and better support honestly. At this time, EDS isn’t easy to get on either disability pension, or the NDIS, as one of the criteria for acceptance is that you’ve “tried every treatment and the condition is settled”. There is no treatment for EDS (other than therapies to improve quality of life), and its a dynamic disability, so it will NEVER BE settled.
I’m hoping the new criteria won’t be a blue shell (Mario reference for the win). We really need INCLUSIVE, sensible criteria and classification that acknowledges co occuring conditions (at higher rates than the general public), as well as leaves no one in the dark, without access to treatment.
I fully appreciate the responsibility (and pressure!) that the EDS Society faces, but I’m also personally invested in the outcome, as are many people in the HSD oubliette.
Here are some useful (and trustworthy!) resources, as well as my latest YouTube video, with even more info on hEDS and HSD.
Kerrie x
Useful links
https://www.ehlers-danlos.com/
https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf
Research
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center
https://pubmed.ncbi.nlm.nih.gov/37774134/
Clinical characteristics of patients with hypermobile type Ehlers–Danlos syndrome (hEDS) and generalized hypermobility spectrum disorders (G-HSD): an online survey
https://link.springer.com/article/10.1007/s00296-023-05378-3
Defining the Chronic Complexities of hEDS and HSD: A Global Survey of Diagnostic Challenges, Life-Long Comorbidities, and Unmet Needs
https://www.mdpi.com/2077-0383/14/16/5636
Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61459
Developing a self-management intervention to manage hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS): an analysis informed by behaviour change theory
https://www.tandfonline.com/doi/full/10.1080/09638288.2021.1933618#abstract
The 2017 International Classification of the Ehlers–Danlos Syndromes