A frequently discussed topic in ME/CFS research is the heterogeneity of ME/CFS, often referring to symptom differences between individuals, suggestive of diverse disease mechanisms. Disease heterogeneity makes the development of diagnostic tests and treatments more challenging, as a ‘one-size fits all’ approach is unlikely.
A recent cross-sectional study explored heterogeneity in ME/CFS with regards to the presence or absence of joint hypermobility. The study analysed self-reported registry data from 815 ME/CFS participants (who fulfilled ME/CFS criteria requiring PEM), 126 (15.5%) of whom had joint hypermobility.
The study found that ME/CFS participants with joint hypermobility were more likely to be female, report Ehlers-Danlos syndrome (EDS; a group of genetic disorders affecting connective tissue throughout the body, including joints, skin, and blood vessels), and have postural orthostatic tachycardia syndrome (PoTS). They also experienced “more severe symptomatology” and “worse [health-related quality of life] HRQOL, particularly in physical functioning and pain, and a higher number of autonomic, neurocognitive, headache, gut, and musculoskeletal symptoms.”
The researchers state that the findings highlight the need for “comprehensive clinical assessments” of individuals with ME/CFS and concurrent joint hypermobility (particularly those with EDS). They further state that “understanding these relationships could aid in subgroup identification, improving diagnosis, and informing targeted therapeutic approaches.”
Limitations of the study include potential selection bias (e.g. individuals with more severe disease may be less likely to participate due to a “burdensome” registry and data collection process), use of optional questionnaires, and self-report data which could be influenced by factors such as recall bias.
Read more about PoTS, a common ME/CFS comorbidity.