1158 Sleep Disorders in a Female with Hypermobility Spectrum Disorder Inclusive of Hypermobile Ehlers Danlos Syndrome

Abstract Introduction Hypermobility spectrum disorder (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) are conditions characterized by joint hypermobility and musculoskeletal complications including pain, atraumatic joint dislocations and joint instability. They are often associated with other comorbidities including but not limited to dysautonomia, GI disturbances, anxiety, depression, sleep disorders and chronic fatigue. There are no known genetic markers for HSD/hEDS, they are clinical diagnoses. The nomenclature for these conditions has evolved recently and there are ongoing discussions regarding the best way to characterize these populations. Data on the prevalence of HSD and hEDS are still limited. We are reporting a case describing multiple, long-standing sleep concerns in a young woman with recent evaluation by a geneticist. Report of case(s) Patient is a 25-year-old Caucasian female with initial past medical history notable for anxiety, depression, asthma, irritable bowel syndrome, POTS, scoliosis and vasovagal syncope. On presentation at age 24, the patient reported a family history of hEDS in an aunt and reported multiple family members with joint hypermobility. She had not seen a geneticist for evaluation but reported symptoms concerning for HSD/hEDS. Patient presented to clinic with multiple sleep concerns including sleep paralysis that had started in childhood, sleep-related hallucinations, snoring, witnessed apneas, unrefreshing sleep, fatigue and crawling sensations in legs that improved with movement. Patient had a home sleep study and was diagnosed with mild obstructive sleep apnea. Patient was initiated on PAP therapy but did not tolerate the mask. She reported some benefit to sleep concerns when she was able to utilize therapy. Lab work showed low ferritin. Patient has not been initiated on iron therapy yet. Patient established care with a geneticist and was informed that her past medical history, symptoms and exam were consistent with HSD inclusive of hEDS. Conclusion This case focuses on sleep disorders and sleep concerns in a patient with a clinical diagnosis of HSD/hEDS. Diagnosis of these hypermobility joint disorders is evolving and with that sleep disorders in these patients are becoming better characterized. Management of HSD/hEDS is symptomatic at this time and patients would benefit from thorough evaluation so as to improve their sleep and overall quality of life. Support (if any)