进行性骨化性纤维发育不良的临床特点及诊治

Clinical Features,Diagnosis and Management of Fibrodysplasia Ossificans Progressiva

进行性骨化性纤维发育不良(FOP)是一类罕见的以进行性的异位骨化为特点的先天性疾病。该病造成患者严重运动障碍,同时累及全身多系统。其发病率相对低,临床医师对FOP的认识不完全,导致误行有创操作或手术治疗,造成异位骨化进展。为增强对疾病的认识,本文就FOP的流行病学、病理机制、临床特征及诊断与治疗进行综述。

Fibrodysplasia ossificans progressiva(FOP)is a rare congenital disease characterized by progressive heterotopic ossification,causing severe immobility with multi-system involvement.The relatively low incidence rate and incomplete knowledge among clinicians of the disease often result in misuse of invasive pro-cedures or surgical treatment,leading to the progression of heterotopic ossification.To promote the knowledge of FOP,this article presents a comprehensive review involving epidemiology,pathological mechanisms,clinical features,diagnosis,and management of the FOP.