Patients facing Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD)

For individuals living with Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD), the journey to diagnosis and appropriate care is often long, complex, and emotionally exhausting. In this article, I explore why accessing help can be so difficult for this population, the challenges of diagnosis and misdiagnosis, and what support structures are currently available, or still desperately needed.

What are EDS and HSD?

Ehlers-Danlos syndromes are a group of heritable connective tissue disorders that affect collagen, the most abundant protein in the body. There are thirteen types of EDS described in the current classification criteria, each with a set of core features, ranging from joint hypermobility and skin hyperextensibility to organ and vascular fragility. Hypermobility spectrum disorders (HSD) refer to individuals who experience symptomatic joint hypermobility, but do not meet the current 2017 criteria for a diagnosis of hypermobile EDS.

Although there are genetic tests for all but the hypermobile type of EDS and HSD, many individuals remain undiagnosed for decades.

This delay can lead to worsening symptoms and secondary conditions, and this can include the following:

• chronic pain,
• fatigue,
• autonomic dysfunction,
• gastrointestinal issues, and
• mental health challenges.

For some of the rarer types of EDS a lack of recognition or care can lead to life-threatening events and death.

Why is getting help so difficult?

Lack of awareness

Many health professionals receive little to no training on EDS and HSD during medical school or specialist training. As a result, signs and symptoms are often missed or misattributed to anxiety, growing pains, fibromyalgia, or even malingering. Those with lived experience are frequently dismissed or misdiagnosed, leading to a lack of trust in the medical system.

Fragmented care

Because EDS and HSD can affect multiple organ systems including; musculoskeletal, cardiovascular, gastrointestinal, neurological, urological and gynaecological - individuals often see multiple specialists. Without coordinated care or a central diagnosis, the picture remains fragmented and misunderstood.

Diagnostic challenges

For hypermobile EDS (hEDS), the most common type, there is currently no genetic test. Diagnosis relies on clinical criteria and the expertise of knowledgeable practitioners, who are few and far between. In contrast, rarer types like vascular EDS (vEDS) do have genetic markers, but access to genetic testing can be limited.

Gender Bias

A large proportion of those with lived experience of EDS and HSD are women or AFAB (assigned female at birth), who face additional hurdles due to entrenched gender biases in medicine. Symptoms are often dismissed as psychosomatic, hormonal, or anxiety related.

Individual stories: The reality behind the stats

I’ve met thousands of individuals living with EDS and HSD. Many of their stories follow a familiar pattern: childhood symptoms dismissed, teenage years filled with medical visits and frustration, those symptoms put down to depression and anxiety and adulthood consumed by the search for answers. For some, getting a diagnosis brings relief and validation; for others, it’s just the beginning of a new set of challenges.

Screening and diagnosis

Early recognition is key. General Practitioners (GPs), physiotherapists, rheumatologists, and geneticists are among the professionals who may first spot the signs. The Beighton Score is commonly used to assess joint hypermobility, but it is only part of the broader diagnostic framework. Unfortunately, many individuals are told they are "too old" to be hypermobile or that their symptoms are "normal” or are caused by anxiety related issues.

There is a critical need for a multidisciplinary diagnostic approach that considers not only physical symptoms but also family history, comorbidities, and lived experience.

Navigating the healthcare system

Those with lived experience of EDS and HSD often become their own care coordinators, researching symptoms, pushing for referrals, and advocating for themselves in appointments. This burden should not fall solely on them.

Internationally, the level of care varies dramatically. Some countries have specialist clinics, while others offer little or no expertise. Advocacy groups like The Ehlers-Danlos Society have created directories and helplines to guide individuals, but systemic change is still needed.

Treatment and support options

EDS and HSD are lifelong conditions with no cure, but there are ways to manage symptoms and improve quality of life:

• Physiotherapy and movement therapy tailored to individual needs, focusing on stabilizing joints, reducing pain, and preventing injury.
• Pain management strategies including medication, cognitive behavioral therapy (CBT), and pacing techniques.
• Multisystem support, addressing comorbidities such as dysautonomia, gastrointestinal issues, and mast cell activation.
• Psychosocial care, to support the mental health burden of living with a misunderstood chronic condition.
• Peer support networks—essential for emotional wellbeing and practical advice.

Frequently Asked Questions

1. Is there a cure for EDS or HSD?

No, there is currently no cure, but symptoms can be managed with early diagnosis, proper care and a multi/interdisciplinary approach.

2. Why was it so hard for my doctor to diagnose me?

Medical education often overlooks these conditions, and without genetic or other laboratory tests for hEDS or HSD, diagnosis relies on clinical awareness that many practitioners lack.

3. Can EDS and HSD affect mental health?

Absolutely. The experience of chronic pain, gaslighting, and delayed diagnosis can contribute to anxiety, depression, and trauma.

4. What should I do if I think I have EDS or HSD?

Start by tracking your symptoms and family history. Seek a referral to a doctor familiar with these conditions.

5. Where can I find reliable information and support?

The Ehlers-Danlos Society (www.ehlers-danlos.com) offers resources, global support groups, and educational materials for individuals with lived experience and professionals.

current criteria leave too many behind

Summary

Living with EDS or HSD means facing a healthcare system that too often fails to understand, recognise, or support those with lived experience. Delayed diagnoses, fragmented care, and systemic disbelief are still far too common, but change is possible.

That’s why The Ehlers-Danlos Society has launched the 'Road to 2026', which is a global strategy to improve diagnosis, care, and quality of life for all affected. Central to this is the revision of the diagnostic criteria and classification, addressing the urgent need for tools that reflect the true spectrum of these conditions. The current criteria leave too many behind; we’re working to ensure the new framework is accurate, inclusive, and informed by data, expert opinion and lived experience.

Alongside this, the strategy focuses on advancing research, expanding clinical education, increasing access to care, and empowering communities worldwide. The 'Road to 2026' is a commitment to reduce the diagnostic odyssey—and to building a future where everyone with EDS or HSD is seen, heard, and supported.

By raising awareness, training healthcare providers, and advocating for systemic change, we can move toward a future where individuals with these conditions are seen, believed, and supported from the start.

Finally, it has to be noted that for some of the rarer types of EDS a lack of recognition or care can lead to life-threatening events and death.