Behavioral Medicine and Clinical Psychology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Pediatr Rheumatol Online J. 2023 Oct 16;21(1):121. doi: 10.1186/s12969-023-00908-6.
Hypermobile Ehlers-Danlos syndrome (hEDS) is characterized by joint and skin laxity, and often accompanied by chronic pain, dysautonomia, increased distress and, functional limitations. The journey to accurate diagnosis is often prolonged due to unclear etiology of symptoms. This manuscript is a narrative review of the literature on illness uncertainty (IU) in hEDS, highlighting the unique facets of IU in this population, as compared to the broader chronic pain population (given symptom overlap between these two disease groups), that warrant additional investigation. Additionally, we considered the unique challenges associated with IU in the context of the developmental nuances of pediatric populations. Specifically, we aimed to (1) map the extant literature of the IU experience in chronic pain conditions broadly including the pediatric and adult research to identify key concepts related to IU and incorporate potential developmental considerations in IU; (2) delineate and describe the IU experience specifically in patients with hEDS, with the goal of identifying gaps in the literature based on aspects of presentation in hEDS that do and do not differ from the broader chronic pain population; and (3) elucidate the potential areas of adverse impact of IU in both general chronic pain populations, and those with hEDS specifically, to provide actionable areas for future research and clinical care of individuals with hEDS. Results of this review indicate that IU has been well-studied in chronic pain generally, but inadequately evaluated in hEDS specifically. Specific features of hEDS (complexity of the disorder, involvement of multiple bodily systems, contribution of organic pathology) may uniquely contribute to IU in this population. This review suggests that ambiguities surrounding the diagnosis of hEDS, symptom course, and treatment recommendations, along with misdiagnosis, perceived dismissal of symptoms, or attribution of symptoms to mental health concerns might increase risk for IU and related distress in patients.
Findings from the present review suggest that distinct features of hEDS yield a set of driving factors for IU that may be somewhat different than those faced by patients with chronic pain or other medical conditions. The development of a validated measure of IU to appropriately assess this construct in patients with hEDS is a research priority. In the clinical setting, providers should be attentive to the potentially aversive diagnostic and treatment experiences reported by patients and attempt to provide clear explanations based on the extant knowledge of hEDS, and implement best-practice recommendations for multidisciplinary treatment.
过度活动型埃勒斯-当洛斯综合征（hEDS）的特征是关节和皮肤松弛，常伴有慢性疼痛、自主神经功能紊乱、痛苦增加和功能受限。由于症状的病因不明，准确诊断的过程往往很漫长。本文是对 hEDS 疾病不确定性（IU）文献的叙述性综述，重点介绍了与更广泛的慢性疼痛人群相比，hEDS 人群中 IU 的独特方面（鉴于这两个疾病群体之间存在症状重叠），这需要进一步研究。此外，我们考虑了在儿科人群发育细微差别背景下，与 IU 相关的独特挑战。具体来说，我们旨在：(1) 对包括儿科和成人研究在内的慢性疼痛疾病中 IU 体验的现有文献进行映射，以确定与 IU 相关的关键概念，并将潜在的发育因素纳入 IU；(2) 具体描述 hEDS 患者的 IU 体验，目的是根据 hEDS 的表现方面，确定文献中的空白，这些方面与更广泛的慢性疼痛人群不同或相同；(3) 阐明 IU 在一般慢性疼痛人群和 hEDS 患者中的潜在不利影响领域，为未来 hEDS 患者的研究和临床护理提供可行的领域。本综述的结果表明，IU 在慢性疼痛方面得到了充分研究，但在 hEDS 方面研究不足。hEDS 的特定特征（疾病的复杂性、多个身体系统的参与、有机病理学的贡献）可能会对该人群的 IU 产生独特的影响。本综述表明，hEDS 诊断的不确定性、症状过程和治疗建议，以及误诊、症状被忽视或归因于心理健康问题，可能会增加患者 IU 及相关痛苦的风险。
本综述的结果表明，hEDS 的独特特征产生了一组 IU 的驱动因素，这些因素可能与慢性疼痛或其他疾病患者所面临的因素有些不同。开发一种经过验证的 IU 测量工具，以适当地评估 hEDS 患者的 IU 是一个研究重点。在临床环境中，医务人员应注意患者报告的潜在不良诊断和治疗体验，并尝试根据 hEDS 的现有知识提供明确的解释，并实施多学科治疗的最佳实践建议。
