Malfait Fransiska, Colman Marlies, Vroman Robin, De Wandele Inge, Rombaut Lies, Miller Rachel E, Malfait Anne-Marie, Syx Delfien
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Am J Med Genet C Semin Med Genet. 2021 Dec;187(4):429-445. doi: 10.1002/ajmg.c.31950. Epub 2021 Nov 19.
Chronic pain is one of the most common, yet poorly studied, complaints in people suffering from Ehlers-Danlos syndromes (EDS). This heterogeneous group of heritable connective tissue disorders is typically characterized by skin hyperextensibility, joint hypermobility, and generalized connective tissue fragility. Most EDS types are caused by genetic defects that affect connective tissue biosynthesis, thereby compromising collagen biosynthesis or fibrillogenesis and resulting in a disorganized extracellular matrix. Even though chronic pain is a major source of disability, functional impairment, and psychosocial suffering in EDS, currently used analgesics and other treatment strategies provide inadequate pain relief and thus represents an important unmet medical need. An important contributor to this is the lack of knowledge about the underlying mechanisms. In this narrative review, we summarize the current understanding of pain and the associated mechanisms in EDS based on clinical studies focusing on questionnaires and experimental pain testing as well as studies in animal models of EDS. In addition, we highlight the challenges, gaps, and opportunities in EDS-pain research.
慢性疼痛是患有埃勒斯-当洛综合征(EDS)的人群中最常见但研究较少的主诉之一。这一遗传性结缔组织疾病的异质性群体通常具有皮肤过度伸展、关节活动过度和全身性结缔组织脆弱的特征。大多数EDS类型是由影响结缔组织生物合成的基因缺陷引起的,从而损害胶原蛋白的生物合成或纤维形成,导致细胞外基质紊乱。尽管慢性疼痛是EDS导致残疾、功能障碍和心理社会痛苦的主要原因,但目前使用的镇痛药和其他治疗策略提供的疼痛缓解不足,因此代表了一项重要的未满足医疗需求。造成这种情况的一个重要原因是对潜在机制缺乏了解。在这篇叙述性综述中,我们基于侧重于问卷调查和实验性疼痛测试的临床研究以及EDS动物模型研究,总结了目前对EDS中疼痛及相关机制的理解。此外,我们强调了EDS疼痛研究中的挑战、差距和机遇。