Mitri Stephanie J, Sabri Alain M, Coussa-Koniski Marie-Louise M
Division of Pulmonary and Sleep Disease, Lebanese American University- Medical Center, Lebanon.
Division of Otorhinolaryngology, Lebanese American University- Medical Center and Division of Otorhinolaryngology SSMC/Mayo Clinic, Abu Dhabi, United Arab Emirates.
Respir Med Case Rep. 2022 Feb 18;36:101602. doi: 10.1016/j.rmcr.2022.101602. eCollection 2022.
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.
埃勒斯-当洛综合征（EDS）是一组罕见的结缔组织疾病，其特征是胶原蛋白和结缔组织合成及结构存在基因缺陷，临床表现从无症状或轻度皮肤和关节过度松弛到严重身体残疾不等。埃勒斯-当洛综合征的轻度无症状形式似乎诊断不足，可能会出现严重的全身并发症，主要是心血管方面的。头颈部的软骨缺陷会增加睡眠呼吸障碍（SDB）的风险，尤其是阻塞性睡眠呼吸暂停（OSA）。现在人们普遍认为，OSA有许多不良影响，通常是心血管方面的，这些影响叠加在埃勒斯-当洛综合征本身的心血管并发症风险之上。我们报告一例自童年起就被诊断为EDS的病例，患者有长期疲劳、日间嗜睡、打鼾和睡眠不佳的病史。尽管在转诊到我们的睡眠实验室前十年，由于症状加重怀疑其患有睡眠呼吸暂停，但他从未接受过睡眠呼吸障碍的检查，并且失访了。本病例报告转述了文献中关于SDB（主要是OSA）与EDS的关联以及这种关联对这些个体健康造成的损害的相关内容。
