Hershenfeld Samantha Aliza, Wasim Syed, McNiven Vanda, Parikh Manasi, Majewski Paula, Faghfoury Hanna, So Joyce
Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, 60 Murray Street, Box 34, 3rd Floor, Room 400, Toronto, ON, M5T 3L9, Canada.
Clinical Genetics, Lakeridge Health, Oshawa, Canada.
Rheumatol Int. 2016 Mar;36(3):341-8. doi: 10.1007/s00296-015-3375-1. Epub 2015 Oct 3.
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary connective tissue disorders characterized by joint hypermobility, widespread musculoskeletal pain and tissue fragility. Psychiatric disorders and psychosocial impairment are common, yet poorly characterized, findings in EDS patients. We investigated the frequency and types of psychiatric disorders and their relationship to systemic manifestations in a cohort of 106 classic and hypermobility type EDS patients. In this retrospective study, extensive medical chart review was performed for patients referred at two genetics clinics who were diagnosed with EDS. Statistical analysis was undertaken to determine the frequency of psychiatric disorders and association with systemic findings. Psychiatric disorders were found in 42.5% of the EDS cohort, with 22.7% of patients affected with 2 or more psychiatric diagnoses. Anxiety and depression were most commonly reported, with frequencies of 23.6 and 25.5%, respectively. A variety of other psychiatric diagnoses were also identified. Abdominal pain [odds ratio (OR) 7.38], neuropathic pain (OR 4.07), migraines (OR 5.21), joint pain (OR 2.85) and fatigue (OR 5.55) were significantly associated with the presence of a psychiatric disorder. The presence of any pain symptom was significantly associated with having a psychiatric disorder (OR 9.68). Muscle pain (OR 2.79), abdominal pain (OR 5.78), neuropathic pain (OR 3.91), migraines (OR 2.63) and fatigue (OR 3.78) were significantly associated with having an anxiety or mood disorder. Joint hypermobility and the classic dermatological features of EDS showed no significant association with having a psychiatric disorder. Our findings demonstrate a high frequency of psychiatric disorders and an association with pain symptoms in EDS.
埃勒斯-当洛综合征（EDS）是一组异质性遗传性结缔组织疾病，其特征为关节活动过度、广泛的肌肉骨骼疼痛和组织脆弱性。精神障碍和心理社会损害在EDS患者中很常见，但特征描述不足。我们调查了106例经典型和活动过度型EDS患者队列中精神障碍的频率和类型及其与全身表现的关系。在这项回顾性研究中，对在两家遗传学诊所就诊并被诊断为EDS的患者进行了广泛的病历审查。进行统计分析以确定精神障碍的频率以及与全身检查结果的关联。在EDS队列中，42.5%的患者存在精神障碍，22.7%的患者有2种或更多精神疾病诊断。最常报告的是焦虑和抑郁，频率分别为23.6%和25.5%。还确定了多种其他精神疾病诊断。腹痛[比值比（OR）7.38]、神经性疼痛（OR 4.07）、偏头痛（OR 5.21）、关节疼痛（OR 2.85）和疲劳（OR 5.55）与精神障碍的存在显著相关。任何疼痛症状的存在与精神障碍显著相关（OR 9.68）。肌肉疼痛（OR 2.79）、腹痛（OR 5.78）、神经性疼痛（OR 3.91）、偏头痛（OR 2.63）和疲劳（OR 3.78）与焦虑或情绪障碍显著相关。EDS的关节活动过度和典型皮肤特征与精神障碍无显著关联。我们的研究结果表明，EDS患者中精神障碍的发生率很高，且与疼痛症状有关。
