A stubborn medical mystery: Insights into signs and origins of a disorder that causes overly flexible joints
Some genetic disorders have a clear connection between the affected gene product and the suite of symptoms produced. But genes do not work in isolation, and many other conditions can be bafflingly complex, as when an affected gene product affects the function of many tissues throughout the body. Ehlers-Danlos syndrome, a collection of genetic disorders of connective tissue, is particularly…
A recent series of studies has shed new light on the complex nature of hypermobile Ehlers-Danlos syndrome (hEDS), a form of connective tissue disorder characterized by overly flexible joints. Led by Christina Laukaitis, clinical associate professor of biomedical and translational sciences at the Carle Illinois College of Medicine, these investigations have deepened our understanding of hEDS' symptoms, causes, and potential treatments.
The first study, published in PLOS One, analyzed data from patients with hEDS, those with hypermobility spectrum disorder, and individuals without joint hypermobility. The research highlighted that hypermobile individuals without chronic pain were younger and had distinct physical characteristics compared to the control group. This suggests that these individuals might represent an earlier stage of disease progression.
The study also clarified that individuals with hEDS can experience symptoms beyond pain, even though they may not report discomfort.
Another study, co-led by Laukaitis and Charles Davies, explored the relationship between hEDS and sleep apnea. The research found that while compliance with continuous positive airway pressure devices was high among hypermobile individuals with sleep apnea, their symptoms of sleepiness did not improve as significantly as in non-hypermobile individuals. This indicates the need to better understand the multifactorial causes of fatigue in this population.
In the third study, published in the Journal of Steroid Biochemistry and Molecular Biology, Laukaitis and her team discovered that hormonal differences, specifically lower androgen sulfate metabolites, exist in women with hEDS. This finding validates clinical observations and opens up new avenues for research into hormone levels and hypermobility.
These studies collectively provide valuable insights into the signs and origins of hEDS, potentially leading to more definitive diagnostic tests and novel, effective treatments for this challenging disorder.
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