When it’s time to look for zebras: A health psychology perspective on Ehlers-Danlos Syndrome

What is Ehlers-Danlos Syndrome? 

Ehlers-Danlos Syndrome (EDS) is a genetic, long-term condition, which includes 13 different subtypes. The long-term condition affects an individual's connective tissues and subsequently impacts the joints, digestive system, cardiovascular system, and the skin. EDS is classified as a rare long-term condition, with subtypes such as Vascular EDS affecting 1- in-100,000 to 200,000 individuals across the globe. 

The most common subtype of EDS is Hypermobile EDS (hEDS), affecting 1-in-3,100 to 5000 individuals. Although there are 13 different subtypes of EDS, there are common physiological symptomatology which are present across all subtypes. These include: chronic pain, skin which easily bruises (and fragile skin), chronic headaches, fatigue, and joint instability.

Why is Ehlers-Danlos Syndrome overlooked & what can be done to change this? 

Statistics show that on average, it can take 10-12 years for individuals to be diagnosed with EDS. However, this average is seen as incredibly low, with some individuals spending between 20-50 years to reach a diagnosis of a subtype of EDS. Due to the rareness of the condition, and the little information currently in the public domain surrounding the condition, it is often overlooked for diagnosis.

This rare condition is therefore represented by a zebra, trying to encourage healthcare professionals, when they hear hoofbeats to not think of horses like they are taught to, but to also remember zebras exist. This metaphor symbolises that healthcare professionals must remember the rarer conditions when examining individuals and trying to conclude a diagnosis process. 

Due to EDS being linked with chronic pain and fatigue, along with other symptoms, healthcare professionals' often misdiagnose individuals with a more well-known condition. This ultimately impacts the individual and can reduce an individual's quality of life, as they do not get the help, support, and condition management plan in place for the correct condition. 

There needs to be much more awareness raised for EDS, including all subtypes, not just in the public domain, but also for healthcare professionals, including the symptoms, how to support individuals living with the condition (even if it is suspected rather than confirmed), and how to implement support once a diagnosis is confirmed.  

My current systematic review: Examining quality of life for individuals living with Ehlers-Danlos syndrome & Mast Cell Activation Syndrome

I am currently in the final stages of writing up a systematic review with narrative synthesis comparing and examining the quality of life for individuals living with EDS and Mast Cell Activation Syndrome (MCAS). Previous research into EDS has highlighted common comorbidities with the condition for individuals to be also living with which includes: MCAS, and Postural Orthostatic Tachycardia Syndrome (POTS) - with these three conditions linking together being known as the 'trifecta'. 

Due to a lot of MCAS symptoms being linked to EDS, it was vital to compare quality of life between these two conditions and consider the impact that living with both conditions may have on an individual's overall quality of life.  

Results from the narrative synthesis within this review has identified that eight domains of quality of life are impacted for individuals living with EDS and MCAS. These include physical functioning, physical role limitation, bodily pain, general health, emotional wellbeing, fatigue, and pain. 

While reviewing the mean scores provided by the included papers, it can be concluded that individuals living with EDS had lower quality of life compared to individuals living with purely MCAS. Overall, from the number of quality of life domains impacted for individuals living with EDS and MCAS, there needs to be more support for individuals living with the conditions. This may include improving knowledge to aid a more effective diagnostic process, or more support with EDS once individuals have a confirmed diagnosis. 

Due to this condition not being curable, it is vital that any management of the condition is intertwined with measures which can help to improve quality of life for individuals with the condition. 

My current research - Nutrition and Ehlers-Danlos Syndrome: Examination of influential factors for nutritional intake and food choice motivation

Another piece of research which I am currently conducting, based at Staffordshire University and the University of Portsmouth, is examining factors which influence nutritional intake and motivation for food choice for individuals living with EDS. 

This piece of research considers factors such as fatigue, pain, anxiety, stress, and nutritional knowledge, and how these factors can impact nutritional intake and food choice for individuals living with EDS. The research is being conducted following completion of my systematic review, which highlighted gastroenterology and digestive issues as big factors that hinder quality of life for those with the condition. Due to digestive issues being so prevalent for this condition, malnutrition can occur very easily, thus research needs to be conducted to examine what other factors may contribute to poor nutritional intake. 

This current study is a cross-sectional study, using a self-report online questionnaire to ask individuals about all five factors which can link to nutritional intake. For the study, all individuals can participate, with the only exclusion criteria being if individuals have or have had a clinical diagnosis of an eating disorder. 

Very little research has been conducted in this field, with previous research either examining a 'healthy' population, or only focusing on one subtype of EDS. Therefore, the hope is that this research advances knowledge and provides many practical implications, not just for individuals living with the condition but also for healthcare professionals. 

This is my first piece of quantitative research in this field, therefore all knowledge gained from this study will direct my future research, ensuring that I continue to raise awareness for EDS and providing new evidence-based knowledge to help inform healthcare professionals. 

The aim is to use results from this study to create infographics surrounding EDS and nutrition, promote the findings at conferences to encourage healthcare professionals to engage with this condition, and to implement health psychology based interventions to help support individuals living with EDS with their nutritional intake. 

What does research into EDS mean for practice? How can health psychologists help individuals living with Ehlers-Danlos Syndrome? 

Research for rare conditions such as EDS is absolutely vital. Research aids more understanding of the condition, more knowledge about symptoms, comorbid conditions, and factors such as nutrition and quality of life. 

Practical implications for research may include developing information for healthcare professionals and developing interventions for individuals living with the condition. Developing interventions and communication with healthcare professionals is where health psychologists can come in!  

As a trainee health psychologist, I am already beginning to use findings from my systematic review to develop a health psychology intervention for stress management for individuals living with EDS. By using research findings to help with assessment and formulation, it ensures that interventions are evidence based and tailored to meet the needs of those living with the condition, trying to ensure improved health behaviours, and better quality of life.

Author biography

Chloe Ryder is a trainee health psychologist, in the third year of her Professional Doctorate at Staffordshire University. Chloe is a full time lecturer in psychology of physical activity & health promotion at The University of Portsmouth. Chloe's research for her Professional Doctorate is a piece of quantitative research examining the influencing factors for nutritional intake and motivation for food choice for individuals living with Ehlers-Danlos Syndrome. Chloe is passionate about raising awareness for rare/under-diagnosed long-term conditions within her research. 

Twitter: @HealthPsychChlo 

LinkedIn: Chloe Ryder