Ehlers-Danlos综合征的诊断与治疗新进展

Advancement in the diagnosis and treatment of Ehlers-Danolos syndrome

Ehlers-Danlos综合征(EDS)是一类以皮肤弹性增高、关节过度活动、组织脆性增加为主要表现的结缔组织遗传疾病。该疾病可累及皮肤、韧带、关节、血管及内脏器官等,症状多变:轻者仅表现为皮肤松弛、关节活动度增大,重者可表现为活动困难、血管破裂等。目前主要采用Villefranche分型将Ehlers-Danlos综合征分为6个亚型:经典型、活动异常增高型、血管型、脊柱侧后凸型、关节松弛型及皮肤脆弱型。各亚型在临床表现、遗传特性及分子缺陷上均有所不同,正确诊断亚型,对该疾病的治疗有重要意义。但是,其临床表现复杂交错,单独根据症状很难正确判断各亚型。生化及分子检测是准确诊断Ehlers-Danlos综合征及其亚型的良好补充。临床医生对Ehlers-Danlos综合征较为陌生,对该疾病的临床表现、诊断和治疗进行综述,以加强临床工作者对该疾病的认识。

The Ehlers-Danlos syndrome is a heritable connective tissue disease,which comprises a heterogeneous groups of diseases,mainly characterized by skin hyperextensibility,joint hypermobility and tissue fragility increased.Multiple organ systems including skin,joint and ligament,blood vessels and internal organs were involved.The manilestations varied from cutis laxa and joint hypermobility to physical disability and vascular rupture and other complications.Currently according to the Villefranche classification,the Ehlers-Danlos syndrome was divided into 6 subtypes,which is classic type,hypermobilitv type,vascular type,kyphoscoliotic type,Arlhrochalasis type and dermalosparaxis type.Each subtype was different in clinical manifestation,inheritance and molecular defect.Identifying the correct EDS subtype is essential for the management.However,it＇s difficult to distinguish the subtype just relying on the clinical manifestation.Biochemical and molecular examinations are favorable supplements for the accurate diagnosis of EDS and EDS subtype.Majority of the clinical doctors were unacquainted with EDS for its rare incidence.Summary ol the clinical manifestations,diagnosis and management is useful for clinical doctors to improve the understanding of this disease.