Division of Pediatric Interventional Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Tech Vasc Interv Radiol. 2024 Jun;27(2):100961. doi: 10.1016/j.tvir.2024.100961. Epub 2024 Jun 28.
Fibro-Adipose Vascular Anomaly (FAVA) is a recently identified type of vascular malformation predominantly affecting adolescent females. Comprising abnormal adipose and vascular components, FAVA is frequently misdiagnosed as other vascular anomalies. It primarily manifests with pain, functional impairment, and musculoskeletal symptoms, particularly in the lower extremities. Accurate diagnosis requires a combination of clinical, radiologic, and histopathologic evaluation, with MRI and ultrasound being the primary imaging tools. Management of FAVA is multidisciplinary and tailored to individual patients. Interventional radiology procedures, such as percutaneous cryoablation, sclerotherapy, and embolization, are effective in long term control of symptoms. Cryoablation is particularly successful in alleviating pain and improving function. Surgical resection is reserved for specific cases with extensive lesions involving joints or when there is severe muscle or joint dysfunction. Additionally, sirolimus, an mTOR inhibitor, has shown promise in symptom relief, although further research is needed to confirm its long-term efficacy. Early diagnosis and treatment are essential for improving the quality of life in FAVA patients. Advances in imaging and treatment strategies have enhanced the ability to manage this complex and rare condition effectively.
纤维脂肪血管异常(FAVA)是一种新近确定的血管畸形类型,主要影响青少年女性。FAVA 由异常脂肪和血管成分组成,常被误诊为其他血管异常。它主要表现为疼痛、功能障碍和肌肉骨骼症状,特别是在下肢。准确的诊断需要临床、影像学和组织病理学评估的结合,MRI 和超声是主要的影像学工具。FAVA 的管理是多学科的,并针对个体患者进行定制。介入放射学程序,如经皮冷冻消融、硬化治疗和栓塞,对于长期控制症状非常有效。冷冻消融在缓解疼痛和改善功能方面特别成功。对于涉及关节的广泛病变或严重肌肉或关节功能障碍的特定病例,保留手术切除。此外,mTOR 抑制剂西罗莫司在缓解症状方面显示出前景,但需要进一步研究来确认其长期疗效。早期诊断和治疗对于改善 FAVA 患者的生活质量至关重要。影像学和治疗策略的进步提高了有效管理这种复杂和罕见疾病的能力。