Skip to content
Inciteful Med

The Path to Answers: Understanding Your hEDS Diagnosis

Last updated:

Hypermobile Ehlers-Danlos Syndrome (hEDS) is a connective tissue disorder diagnosed through strict clinical criteria, as there is currently no single genetic test. Hypermobility Spectrum Disorder (HSD) is a related diagnosis for those who do not meet all hEDS criteria but have similar symptoms.

Key Takeaways

  • • hEDS is a connective tissue disorder that affects multiple body systems, including joints, skin, blood vessels, and organs.
  • • Because there is no known genetic marker or blood test for hEDS, doctors rely on strict clinical criteria for diagnosis.
  • • Hypermobility Spectrum Disorder (HSD) is diagnosed when symptoms are present but strict hEDS criteria are not fully met.
  • • Symptoms of HSD are just as real and require the same level of multidisciplinary care and management as hEDS.
  • • Getting a diagnosis often takes years due to a lack of medical awareness and the invisible, multisystem nature of the symptoms.

Receiving a diagnosis of Hypermobile Ehlers-Danlos Syndrome (hEDS) or Hypermobility Spectrum Disorder (HSD) often marks the end of a long and exhausting search for answers [1]. For many, this journey—sometimes called a diagnostic odyssey—lasts more than 10 to 18 years from the first sign of symptoms [1][2]. If you feel a complex mix of relief that your symptoms finally have a name, and grief for the years spent without answers, please know that these reactions are common and valid [3][4].

Understanding Your Diagnosis

hEDS is a connective tissue disorder [5]. Connective tissue acts like the “glue” of the body, providing structure to your skin, joints, blood vessels, and organs. In hEDS, this “glue” is more flexible than it should be, which can lead to symptoms across many different body systems [6][7].

Unlike other types of Ehlers-Danlos Syndrome (EDS), such as Classical EDS or Vascular EDS, which have known genetic mutations (like defects in the COL5A1 or COL3A1 genes), hEDS does not yet have a single identified genetic marker [8][9]. Because there is no simple blood test for hEDS, doctors must use a specific set of clinical criteria to make a diagnosis [10].

hEDS vs. Hypermobility Spectrum Disorder (HSD)

In 2017, the international criteria for diagnosing hEDS were updated to be much stricter [11]. This led to the creation of a new category called Hypermobility Spectrum Disorder (HSD) [11].

  • hEDS: Requires a specific combination of joint hypermobility, systemic (whole-body) features like stretchy skin or a high palate, and a family history [10][12].
  • HSD: Diagnosed when a person has symptomatic joint hypermobility (pain, instability, or frequent dislocations) but does not meet every single strict requirement for hEDS [11][1].

It is important to understand that hEDS and HSD are often viewed as a clinical continuum [13]. This means that even if you are diagnosed with HSD rather than hEDS, your symptoms—such as chronic pain, fatigue, and digestive issues—are just as real and require the same level of care and management [13][14].

Why the Road to Diagnosis is Hard

If you have felt dismissed or told your symptoms were “all in your head,” you are not alone. This experience, often called medical gaslighting, is a frequent part of the hEDS journey [15][16]. Several factors contribute to why hEDS is so difficult to diagnose:

  • Lack of Awareness: Many healthcare providers receive limited training on connective tissue disorders [17][3].
  • Multisystem Symptoms: Because hEDS affects the whole body, you may have symptoms that seem unrelated, such as dizziness (POTS), allergic-like reactions (MCAS), or stomach issues, which can confuse doctors [6][18].
  • Invisible Nature: Many of the most debilitating symptoms, like chronic pain and fatigue, cannot be seen on standard X-rays or blood tests [3][19].

Validating Your Experience

Finally having a name for your condition can be a powerful tool for self-advocacy. It confirms that your symptoms have a biological basis and that you deserve a multidisciplinary care team—one that looks at your health as a whole rather than a collection of separate problems [20][3]. While there is no “cure” for hEDS, a diagnosis is the first step toward finding management strategies that improve your quality of life and help you regain a sense of control over your health [3][21].

Frequently Asked Questions

What is the difference between hEDS and HSD?
Both conditions involve symptomatic joint hypermobility, but hEDS requires a specific combination of joint hypermobility, systemic features, and family history. HSD is diagnosed when a person has similar symptoms but does not meet all the strict clinical criteria for hEDS.
How is hypermobile Ehlers-Danlos syndrome diagnosed?
Unlike some other types of EDS, there is currently no genetic blood test for hEDS. Doctors diagnose the condition using a strict set of clinical criteria that look at joint hypermobility, systemic connective tissue features, and family history.
Why does it take so long to get diagnosed with hEDS?
Diagnosis often takes years because hEDS causes invisible, multisystem symptoms like chronic pain, fatigue, and digestive issues that can confuse doctors. Additionally, many healthcare providers receive limited training on complex connective tissue disorders.
Should I be tested for other conditions if I have hEDS?
Patients with hEDS often experience a cluster of related conditions, including postural orthostatic tachycardia syndrome (POTS) and mast cell activation syndrome (MCAS). You should ask your care team about screening for these commonly associated conditions.

Questions for Your Doctor

  • • What specific clinical criteria (Beighton score, systemic features, family history) were used to confirm my diagnosis?
  • • If I have been diagnosed with Hypermobility Spectrum Disorder (HSD) instead of hEDS, how does that change my treatment plan and long-term management?
  • • Are you familiar with the 'trifecta' of conditions (POTS and MCAS) that often accompany hEDS, and should I be screened for them?
  • • Can you refer me to a physical therapist or specialist who has specific experience treating patients with hypermobility?
  • • How does the lack of a known genetic marker for hEDS affect my ability to get genetic testing for other EDS subtypes?

Questions for You

  • • How many years have I spent seeking answers for my symptoms, and how has this 'diagnostic odyssey' affected my trust in medical providers?
  • • What was my initial reaction to receiving this diagnosis—did I feel relief, grief, anger, or a mix of emotions?
  • • Do I have 'double-jointed' family members or relatives with similar multisystem symptoms (like chronic pain or fainting) that I should share with my care team?
  • • How have I been coping with the 'invisible' nature of my symptoms, and do I feel I have a support system that validates my experience?

Want personalized information?

Type your question below to get evidence-based answers tailored to your situation.

References

  1. 1

    Recognizing and Effectively Managing Hypermobility-Related Conditions.

    Russek LN, Stott P, Simmonds J

    Physical therapy 2019; (99(9)):1189-1200 doi:10.1093/ptj/pzz078.

    PMID: 31158283
  2. 2

    Health-Related Quality of Life in Midlife and Older Women With Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders.

    Anderson LK

    Nursing for women's health 2026; doi:10.1016/j.nwh.2025.09.006.

    PMID: 41587761
  3. 3

    Healthcare experiences among adults with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder in the United States.

    Estrella E, Frazier PA

    Disability and rehabilitation 2024; (46(4)):731-740 doi:10.1080/09638288.2023.2176554.

    PMID: 36772820
  4. 4

    Clinical characteristics of patients with hypermobile type Ehlers-Danlos syndrome (hEDS) and generalized hypermobility spectrum disorders (G-HSD): an online survey.

    Teran-Wodzinski P, Kumar A

    Rheumatology international 2023; (43(10)):1935-1945 doi:10.1007/s00296-023-05378-3.

    PMID: 37378685
  5. 5

    Updates in Clinical and Genetics Aspects of Hypermobile Ehlers Danlos Syndrome

    Forghani I

    Balkan medical journal 2019; (36(1)):12-16 doi:10.4274/balkanmedj.2018.1113.

    PMID: 30063214
  6. 6

    Self-reported Demographics of 154 Hypermobile Ehlers-Danlos Syndrome Patients.

    Ploeg AN, Courseault J, Cheng WS

    American journal of physical medicine & rehabilitation 2025; (104(10)):927-932 doi:10.1097/PHM.0000000000002766.

    PMID: 40300043
  7. 7

    Hypermobile Ehlers-Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know.

    Thwaites PA, Gibson PR, Burgell RE

    Journal of gastroenterology and hepatology 2022; (37(9)):1693-1709 doi:10.1111/jgh.15927.

    PMID: 35750466
  8. 8

    Hypermobile Ehlers-Danlos syndrome: A review and a critical appraisal of published genetic research to date.

    Scicluna K, Formosa MM, Farrugia R, Borg I

    Clinical genetics 2022; (101(1)):20-31 doi:10.1111/cge.14026.

    PMID: 34219226
  9. 9

    Multisystem Involvement in a Pediatric Patient With Hypermobile Ehlers-Danlos Syndrome: A Case Report of the Diagnostic Complexity and Management Challenges.

    Cosare MJ, Korkmaz AG, Valencia V, et al.

    Cureus 2024; (16(6)):e62083 doi:10.7759/cureus.62083.

    PMID: 38989334
  10. 10

    Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome.

    Miller AJ, Stiles LE, Sheehan T, et al.

    Autonomic neuroscience : basic & clinical 2020; (224()):102637 doi:10.1016/j.autneu.2020.102637.

    PMID: 31954224
  11. 11

    An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome.

    Martin A

    European journal of medical genetics 2019; (62(7)):103672 doi:10.1016/j.ejmg.2019.103672.

    PMID: 31102747
  12. 12

    Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders.

    Micale L, Fusco C, Castori M

    Advances in experimental medicine and biology 2021; (1348()):207-233 doi:10.1007/978-3-030-80614-9_9.

    PMID: 34807421
  13. 13

    Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

    Martinez KL, Mauss C, Andrews J, et al.

    American journal of medical genetics. Part A 2021; (185(7)):2012-2025 doi:10.1002/ajmg.a.62197.

    PMID: 33826221
  14. 14

    Bone parameters in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder: A comparative cross-sectional study.

    Coussens M, Banica T, Lapauw B, et al.

    Bone 2023; (166()):116583 doi:10.1016/j.bone.2022.116583.

    PMID: 36243401
  15. 15

    Co-Created Solutions for Perinatal Professionals and Childbearing Needs for People with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders.

    Pearce G, Bell L, Magee P, Pezaro S

    International journal of environmental research and public health 2023; (20(20)) doi:10.3390/ijerph20206955.

    PMID: 37887694
  16. 16

    The diagnostic journey in adults with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

    Anderson LK, Lane KR

    Journal of the American Association of Nurse Practitioners 2021; (34(4)):639-648 doi:10.1097/JXX.0000000000000672.

    PMID: 34739411
  17. 17

    Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type: a qualitative interview study.

    Bennett SE, Walsh N, Moss T, Palmer S

    Disability and rehabilitation 2021; (43(6)):795-804 doi:10.1080/09638288.2019.1641848.

    PMID: 31318301
  18. 18

    Mast cell activation disease and immunoglobulin deficiency in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.

    Brock I, Prendergast W, Maitland A

    American journal of medical genetics. Part C, Seminars in medical genetics 2021; (187(4)):473-481 doi:10.1002/ajmg.c.31940.

    PMID: 34747107
  19. 19

    The Language of Pain in the Hypermobile Ehlers-Danlos Syndrome: Metaphors as a Key to Understanding the Experience of Pain and as a Rehabilitation Tool.

    Camerota F, Mariani R, Cordiano G, et al.

    Brain sciences 2023; (13(7)) doi:10.3390/brainsci13071042.

    PMID: 37508973
  20. 20

    Developing a self-management intervention to manage hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS): an analysis informed by behaviour change theory.

    Bennett SE, Walsh N, Moss T, Palmer S

    Disability and rehabilitation 2022; (44(18)):5231-5240 doi:10.1080/09638288.2021.1933618.

    PMID: 34101520
  21. 21

    Fear avoidance, fear of falling, and pain disability in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

    Chuchin JD, Ornstein TJ

    Disability and rehabilitation 2024; (46(18)):4234-4245 doi:10.1080/09638288.2023.2268520.

    PMID: 37843031

This page provides educational information about hEDS and HSD diagnosis. It is not a substitute for professional medical advice, a formal clinical evaluation, or targeted genetic testing.

Stay up to date

Get notified when new research about Hypermobile Ehlers-Danlos Syndrome (hEDS) is published.

No spam. Unsubscribe anytime.