Department of Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, United States; The Center for Research in FOP and Related Disorders, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, United States.
Department of Radiology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, United States; Department of Orthopedics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, United States.
Bone. 2018 Apr;109:147-152. doi: 10.1016/j.bone.2017.08.011. Epub 2017 Aug 16.
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare autosomal dominant genetic disorder of heterotopic ossification (HO) characterized by skeletal anomalies and episodic soft tissue swelling (flare-ups) that can transform into heterotopic bone. The progressive development of heterotopic bone and progressive arthropathy leads to significant limitation of mobility. This paper will review various imaging modalities used in evaluating episodic soft tissue swelling (flare-ups), heterotopic bone and skeletal anomalies. Different imaging modalities are required at different stages of the disease. Ultrasound and MRI can be useful for evaluating edema in early stages of a flare-up; MRI being superior to ultrasonography. Plain radiographs and computed tomography (CT) can evaluate heterotopic bone in later stages of HO, but CT scan is better at evaluating presence and the volume of heterotopic bone. Functional imaging demonstrates increased activity at sites of flare-ups, their utility in determining disease progression need to be further evaluated. Cost, radiation exposure, availability of various imaging modalities and the ability of FOP patients to fit in the scanner are all considerations when requesting radiographic tests in a patient with FOP. Future studies are required to determine if early radiographic findings can determine disease progression and response to treatment in this disorder.
进行性骨化性纤维发育不良（FOP）是一种罕见的常染色体显性遗传的异位骨化（HO）疾病，其特征为骨骼异常和偶发性软组织肿胀（发作），可转化为异位骨。异位骨的进行性发展和进行性关节病导致运动能力显著受限。本文将回顾用于评估偶发性软组织肿胀（发作）、异位骨和骨骼异常的各种影像学检查方法。不同的影像学检查方法在疾病的不同阶段都有需要。超声和 MRI 可用于评估发作早期的水肿；MRI 优于超声。平片和计算机断层扫描（CT）可评估 HO 后期的异位骨，但 CT 扫描更能评估异位骨的存在和体积。功能成像显示发作部位的活性增加，但其在确定疾病进展方面的效用需要进一步评估。在 FOP 患者中请求放射学检查时，需要考虑成本、辐射暴露、各种影像学检查方法的可用性以及 FOP 患者是否能适应扫描仪。未来的研究需要确定早期放射学发现是否可以确定该疾病的进展和对治疗的反应。
