Abstract

Hypermobile Ehlers-Danlos Syndrome (hEDS) is a poorly understood and difficult to diagnose connective tissue disorder resulting from genetic and epigenetic processes affecting collagen formation. Systemic symptoms include joint instability, chronic pain, fatigue, and mental health disorders. There is no biomarker for diagnosis, and given that symptoms are diffuse, it is unsurprising that it takes patients years to receive a diagnosis. Once diagnosed, finding providers versed in managing the scope and progression of the disease is rare.  The result is that people with hEDS live with a largely invisible condition that profoundly impacts their quality of life but are left to manage it on their own. 

Developed in partnership with women with hEDS, our pilot study examines the experiences of people, ages 18-25, who report simultaneously trying to manage the invisible symptoms of hEDS and the transition to adulthood alone. We found that people with hEDS strive to pass by managing and masking their symptoms on their own to meet the cultural standards of success in young adulthood. Our findings call attention to how the invisibility of hEDS coupled with constant efforts to pass, spirals into a profound sense of isolation and results in increased mental distress for people with the condition.

Background

Hypermobile Ehlers-Danlos Syndrome is the most common type of Ehlers-Danlos (Pyeritz 2000, 1). It is a connective tissue disorder that affects all of the body’s collagen, leading to a wide array of soft-tissue symptoms in patients, like hypermobile joints, stretchy skin that doesn't heal easily, dislocations, scoliosis, inflammatory bowel disease, sleep distrubances, migraines, anxiety, and of course, chronic pain (Tinkle et al. 2017, 2).  There are currently no accepted genetic or chemical markers to diagnose the condition, and once diagnosed, the only treatment is palliative: ibuprofen, physical therapy, shoe inserts, exercise, sleep, and warnings to "be careful" (Tinkle et al. 2017, 2). Hypermobile Ehler-Danlos and the associated pain will progress with age in the patients affected, which makes getting a diagnosis early helpful for pain management (Tinkle et al. 2017, 2). Due the the variability in the phenotypes of hEDS and the lack of biomarker, many patients are left without a diagnosis for years (Tinkle et al. 2017, 3). Medical students are commonly taught, "When you hear hoofbeats, think horses not zebras" (https://www.ehlers-danlos.org/about-us/charity-aims-and-focus/why-the-zebra/). Zebras are the emblem of the EDS society. Estimates had suggested that there were only about 68,000 Americans with EDS, and thus it was a rare disease.  However, recent studies suggest that EDS is not rare at all, the actual prevalence is between 68,000 and 3 million (Demmler et al. 2019; **; Pyeritz 2000, 1), predominantly women. The Beighton test is currently used as a diagnostic criterion for joint hypermobility. This measures hypermobility in five different places on the body, to create a total score out of nine points, where an adult with a five or higher implies the person has joint hypermobility (Beighton et al. 1998, 3). Children must have a score of six or higher and adults over fifty a score of four or higher (Beighton et al. 1998, 3). Many patients will go to different healthcare providers on their way to a final diagnosis and can end up with varying diagnoses from different providers. These differing symptoms and diagnoses can make treatment difficult and can further delay how quickly a person gets their final diagnosis of hEDS (Anderson & Lane 2022, 8). 

In previous qualitative studies on patient experiences with Hypermobile Ehlers-Danlos Syndrome it describes the pervasive effect symptoms have on a patient's ability to work, see friends, and live their lives without limitations. Participants in these studies reported having an overall decrease in quality of life when compared with their peers. Of the fourteen qualitative studies on this subject we identified, 231 people have been interviewed about their experiences. In these studies, patients reported on a decreased quality of life. They explained their hEDS impacts their ability to work, make new friends, and maintain the energy to go to social events (Palomo-Toucedo et. al 2020, 4). Participants in these studies have also noted the toll hEDS can take on their mental health, leading to symptoms of anxiety, depression, and feelings of uselessness (Palomo-Toucedo et. al 2020, 2). There still remain many unanswered questions in regards to patients’ illness experiences with Hypermobile Ehlers-Danlos Syndrome. 

Methods

We report here on a mixed methods, ongoing pilot study designed with a partner to research model. Typically a partner to research model (Weisner & Hay 2015, 4) references partnering with providers or community workers, those who could implement the findings in the real world, yet in this case, we partnered with patients, listening to their needs for information, aligning those with gaps in the research literature, and then designing a mixed methods study to begin exploring those gaps. To begin filling these gaps, we iteratively designed our interview questions in consultation with a college student with hEDS. Our target demographic included people diagnosed with Hypermobile Ehlers-Danlos by a medical profressional between the ages of 18-30. The study includes a demographic survey, two short pain scales, and an open-ended interview of 45-90 minutes. Interviews are transcribed and uploaded into Dedoose together for coding and analysis. To date, we have completed ten interviews from people ages 18-24. 

Results & Discussion 

Participant conversations centered around four main aspects of their hEDS experience: pain, dislocations, fatigue, and anxiety. Pain dominated the conversation so thoroughly that 4.5% of all words said across the ten interviews was the word 'pain'. In the quantitative self-reports, respondents reported mild to moderate pain at the time of the interview (2-5 on the 10 point Wong-Baker Pain Scale), and mild to moderate average pain in a week (2-7 on a 10 point Visual Analog Scale). And yet pain figures prominently in their descriptions of their lives. Figure 1 shows illustrates that those who reported that their pain interfered more with their general activity in the past week spoke more about their pain during the interviews. 

As one person put it, "I really, I really haven't, like, had a day of my life without pain, like, I can't even think of not being in pain. I don’t know what that feels like."  For everyone interviewed, pain figures prominently in their everyday lives. Each person detailed how they ignore it the best they can, how they’ve modified small habits in their life, like being careful not to cross their knees when they sit, and giving up beloved activities like going on walks to reduce the pain they feel regularly.  Participated reported a null to moderate amount that their pain interfered with their enjoyment of life in the previous week (0-5 on a 10 point Visual Analog Scale). They also reported a pain interfered with their general activity level a low to moderate amount on average in the past week (1-6 on a 10 point Visual Analog Scale).

What is remarkable is the adjustments these young adults have made in their lives to strive to manage their pain.  Participants spoke of how pain has shrunk the landscapes of their worlds. Some quit sports they had loved. Another spoke of avoiding going out with friends on the weekend because alcohol affects her more severely and if she should trip, it would take her so much longer to recover from a sprained ankle than "a normal person."  One spoke of giving up on a dream career, and how she had changed what job she wished to do based on what she thought would be the most tolerable with her pain. She dismissed all of the careers she had been interested in before her diagnosis, and came to the conclusion that because of her hEDS, a remote online job was the best possible option. For the most part, they make these adjustments silently, trying to "be just like everyone else."   One woman described the accommodations she had spent a year trying to get while working in her Organic Chemistry lab because standing for hours in chemistry lab was too painful, as she put it, "My body hates me.” But when the TA for the lab came in and announced to the class "Oh, you're that special girl" who needs a stool. “It really stripped me of something that could’ve made my experience a lot more positive.” That one comment made her so embarrassed and anxious, that she never used the stool, and instead would sit on the floor when the pain just became unbearable.  Pain is a nagging companion, requiring constant attention, but as this example highlights, attempts to make adjustments and accommodations for the pain need to be socially accepted, otherwise it simply augments suffering. 

Pain was followed closely by discussions of dislocations, with 70% of participants detailing how dislocations and subluxations impact their lives. Three participants described instances of dislocations while sleeping. One of the three went on to describe how she had dislocated her wrist while picking up a loaf of bread. She explained to me that she must watch everything she's doing all of the time, from where she walks to how she sits. Another person described how repeated shoulder dislocations had left them with nerve damage in their arm, and the constant pain they experience as a result. People with hEDS are forced to see the world in a different way, where a loaf of bread may dislocate a wrist and a bump on a sidewalk could cause ankles to slip out of place. 

Fatigue was described by 60% of participants as affecting their day-today lives. Energy sapping, inability to do anything.  People would see them and call them lazy or out of shape, when these young adults couldn't walk for a mile without utter exhaustion. Others described how the fatigue they experienced impacted each part of their day. They meticulously planned when and where they had to be, and how they could get each of those places with the least amount of movement, and the way episodes of intense fatigue could derail a week of this planning. They described to me how living in constant fear of these fatigue flare-ups was as mentally exhausting as it was physical. Couple that with constant aching pain, and the weirdness of suddenly dislocated joints, and it is no wonder that these young adults expressed a sense of isolation and at times despair.  

It is perhaps not surprising that depression and particularly anxiety have high incidence rates among those with hEDS (Cederloff et al 2016, 2; Kamboureli et al. 2025, ). In addition to newly reported potential neurological changes implicated in heightened anxiety for those with EDS (Kamboureli et al. 2025, ), experientially the fears of dislocations or flares of pain and fatigue augment anxiety. hEDS was strongly associated with emotional and mental distress for 100% of participants, with 30% underscoring the negative impact of anxiety. One woman described how much their anxiety and hEDS feed off each other. She told me how the pain she experiences makes her more anxious, and the anxiety would heighten the pain, leading to this endless cycle. However, feelings of anxiety were not only related to pain. People reported the feelings as caused by a wide array of things, from approaching the subject with outsiders, to difficulty coming to peace with the fact they will always have a different baseline of health than their peers. 

During the course of these interviews many participants expressed their thoughts on what they wish others understood about their realties. They spoke about the consistency of the pain and fatigue they experiences and how they rarely bring up with others, since friends and family do not fully grasp the constant nature of their symptoms. Participants also spoke about the invisible nature of hEDS, detailing how it can make it difficult to get outsiders to understand what they cannot see or feel. "It made me feel crazy," said one. This invisibly also lead to feeling of apprehensiveness when telling others and fear of not being believed. Many wished they could get others to understand how much it interrupts their lives. From everyday activities like sitting, lying down, standing, and walking. "It interrupts everything in my life." Finally, they wanted other to understand they are still capable, "“I'm gonna ask if I need something. But other than that, like, just treat me like a normal person.” 

Contact me with questions at:

boateek@miamioh.edu