9/21/2026
Three recent studies led by CI MED Clinical Associate Professor Dr. Christina Laukaitis advance the understanding of hypermobile Ehlers-Danlos Syndrome, a rare connective tissue disorder that causes joint instability and often severe pain. The work could could pave the way for improved diagnosis and treatment for patients with hEDS.
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New research by an expert geneticist at Carle Illinois College of Medicine could pave the way for improved diagnosis and treatment for patients with a rare genetic disorder of the connective tissue that causes joint instability and often severe pain.
Three recent studies led by CI MED Clinical Associate Professor Dr. Christina Laukaitis advance the understanding of hypermobile Ehlers-Danlos Syndrome, one of 13 types of EDS. With this manifestation, patients experience joints that move beyond the usual range of motion, often resulting in joint instability.
“These three publications significantly expand our knowledge about the causes and implications of joint hypermobility,” Laukaitis said. Laukaitis and collaborators leveraged several types of data, including patient demographics, symptom profiles, and physiological data, to clarify how hypermobile EDS occurs and progresses.
While EDS is rare, hypermobile EDS is its most common form, representing about 90% of all EDS cases. Characteristics include unstable and hypermobile joints, as well as associated chronic pain. Scientists haven’t yet identified the multiple genes underlying hEDS development, making it difficult to diagnose. Current international protocols use symptoms and exam results as the basis for a diagnosis. Because researchers don’t understand how specific genetic changes cause particular symptoms, it’s difficult to develop new and effective treatments.
In a study described in PLOS One, Laukaitis and collaborators at the University of Arizona, St. Jude Research Hospital in Memphis, and the Carle Health Stephens Family Clinical Research Institute in Urbana, Illinois, addressed this knowledge gap. The research team surveyed patients with hEDS, those with another disease called hypermobility spectrum disorder, and non-hypermobile individuals. Including individuals representing a range of symptom severity allowed scientists to gain new potential insight into the development of hEDS.
The research revealed that people who have hypermobile joints without chronic pain tended to be younger and had physical differences from the non-hypermobile control group, suggesting that they might represent an earlier point in disease progression.
Exploring cross-category relationships between symptoms in people with hypermobile EDS was an important goal of the study, Laukaitis said. “In addition to describing the significant multi-system impairment people with EDS face, its major new finding is that people with hypermobility have symptoms, even though they might not report pain.”
A second study published in Sleep and Breathing and co-led by Laukaitis and CI MED Clinical Associate Professor of Neurology and Neurosurgery Dr. Charles Davies examined the relationship between hEDS and sleep apnea.
Obstructive sleep apnea is a disorder in which soft tissues in the back of the mouth and throat relax and block the airway during sleep. Individuals with hEDS are known to be at a higher risk for sleep apnea. Researchers believe this may be because of the weaker and more flexible connective tissue associated with the disorder. The recent study examined whether this difference in the cause of sleep apnea may be associated with differences in the effectiveness of treatment with a continuous positive airway pressure device.
“The work on sleep apnea makes the surprising discovery that, while compliance with treatment is excellent in hypermobile people with sleep apnea, their symptoms of sleepiness do not improve as much as in non-hypermobile people,” Laukaitis said. “This makes it vital that we understand the multi-factorial causes of fatigue in this population.”
A third study in which Laukaitis collaborated with postdoctoral researcher Sarrah Hannon and Associate Professor of Genetics and Developmental Pediatrics Jennifer Andrews at the University of Arizona explored possible correlations between hormonal differences and symptom severity in women with hEDS.
“[The study] makes a novel and exciting observation that androgen levels differ in people with hEDS,” Laukaitis said of her project published in the Journal of Steroid Biochemistry and Molecular Biology. "Here we directly identify relationships between hormone levels and hypermobility, validating the clinical observation and opening a new area of study.”
Building on this study and the collection of work on hEDS, Laukaitis and her colleagues hope to develop a more definitive diagnostic test for hEDS. The new insights into the connections between signs and symptoms of the disease may also point to novel and more effective treatments.
The research projects were supported by the Milton and Tamar Maltz Family Foundation, the Ehlers-Danlos Society, and an anonymous donor to EDS research at Carle Health.
Editor’s note: This summary was adapted from the original article by Claudia Lutz of the Carl R. Woese Institute for Genomic Biology.