Global study reveals the complex web of health issues linked to hEDS
High rates of POTS, heart problems, and digestive issues found in hEDS patients
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People with hypermobile Ehlers-Danlos syndrome (hEDS) face a significantly higher risk for a wide range of complex health issues, including heart rate disorders, digestive problems, and postural orthostatic tachycardia syndrome (POTS), according to a new global study.
Based on survey data from more than 2,500 patients, the research highlights the “disease complexity” that defines life with hEDS. Lead author Sylvia Wachs, who lives with the condition herself, spearheaded the study to combat the medical dismissal and long wait times often experienced by the hEDS community.
Wachs and her team hope that by documenting just how frequently these comorbidities occur, they can improve physician awareness and validate the “myriad disruptive symptoms” patients struggle with daily.
The study, “Prevalence of various comorbidities in a cohort of individuals with hypermobile Ehlers-Danlos syndrome,” was published in the Journal of Rare Diseases.Â
The mystery of co-occurring conditions
hEDS is marked by symptoms such as fragile skin and unusually mobile joints. A few previous studies have reported that hEDS tends to co-occur with certain other conditions, most notably POTS, a disorder in which standing up can trigger changes in heart rate and blood pressure, resulting in symptoms such as dizziness and lightheadedness. But the spectrum of co-occurring conditions that tend to affect hEDS patients remains incompletely understood.
To gain a more complete understanding of these co-occurring conditions and their frequency, Wachs and her collaborator analyzed data from the DICE Global Registry. This survey collected responses from more than 2,500 people worldwide with hEDS. Among the survey respondents, most identified as white, cisgender women.
“The frequency of disease reporting in this cohort cannot be used to infer disease prevalence in the whole hEDS population. However, comparison with published prevalence rates for each condition among the general population gives insights into the extent of disease complexity in some hEDS populations likely to seek help,” the researchers noted.
In line with prior studies, results showed high rates of POTS, with more than 60% of survey respondents saying they have this disorder.
Many other conditions were also reported by most of the survey respondents. For example, chronic constipation and irritable bowel syndrome, which affect the digestive system and can cause stomach cramps, bloating, and diarrhea, were each reported by about 60% of respondents. More than two-thirds of patients reported acid reflux, and more than three-quarters reported allergic rhinitis (allergies that cause symptoms including sneezing and an itchy nose).
Link to mental health and neurodiversity
Mental health issues were also common: just over 74% of the hEDS patients reported having an anxiety disorder, and 67% reported depression. Nearly half of the patients reported having attention-deficit hyperactivity disorder (ADHD), which the investigators noted is 40 times more than a general population estimate (1.15%), and about 1 out of 7 reported autism spectrum disorder, also a much higher rate than in the general population.
Various other health issues — including migraine, arrhythmia (abnormal heart rhythms), certain autoimmune disorders, and epilepsy — were also found at higher rates among the survey respondents than are typically reported in the general population.
The researchers noted that this survey was limited by its reliance on patient-reported data. Since the survey was voluntary, respondents were likely skewed “towards those who were aware of the DICE Registry and had the inclination to fill out a lengthy survey.” They also noted that immune system dysregulation and connective tissue abnormalities in the lungs may help explain the elevated rates of some co-occurring disorders in hEDS.
They said that these survey findings could serve as a valuable point for further research into how hEDS tends to co-occur with other conditions.
“Clearly, much more research needs to be conducted on hEDS. This is only a start to unraveling the mystery of this enigmatic disease,” the scientists concluded.
