Obstructive sleep apnea in a case of ehlers-danlos syndrome
Abstract
Ehlers-Danlos Syndrome (EDS) is a group of rare connective tissue disorders characterized by genetic defects in collagen and connective tissue synthesis and structure, with manifestations ranging from asymptomatic or mild skin and joint hyperlaxity to severe physical disability. Mild asymptomatic forms of Ehlers-Danlos syndrome seems to be under diagnosed and may have severe systemic complications mainly cardio vascular. Cartilaginous defects in the head and neck region increase the risk of Sleep-Disordered Breathing (SDB) especially Obstructive Sleep Apnea (OSA). It is well admitted now that OSA has many, frequently cardiovascular, adverse effects which are added to the risk of Ehlers-Danlos Syndrome's itself cardiovascular complications. We report a case of EDS diagnosed since childhood with a long history of fatigue, daytime somnolence, snoring and unrefreshing sleep. Although the diagnosis of sleep apnea was suspected because of worsening of his symptoms ten years prior to his referral to our sleep laboratory, he was never investigated for Sleep-disordered breathing and was lost to follow up. This case report relays what is stated in the literature regarding the association of SDB, mainly OSA, with EDS and its toll on the health of such individuals.
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