Wang Huaijie,Xie Chong,Lin Weilong,et al.Diagnosis and treatment of fibro-adipose vascular anomaly(FAVA)[J].Journal of Clinical Pediatric Surgery,2022,21(07):668-674.[doi:10.3760/cma.j.cn101785-202102022-014]
纤维脂肪血管病变13例的诊断与治疗
- Title:
- Diagnosis and treatment of fibro-adipose vascular anomaly(FAVA)
- Keywords:
- FAVA; Fibro-Adipose Vascular Anomaly; Hemangioma; Venous Malformation; Contracture; Joint Deformity
- 摘要:
- 目的 初步探讨纤维脂肪血管病变（fibro-adipose vascular anomaly，FAVA）的诊断要点和治疗原则。方法 回顾性分析西安国际医学中心医院小儿外科2019年9月至2020年12月收治的13例FAVA病例，总结患儿性别、初诊年龄、临床表现、病变范围、前期诊断与治疗、影像学特点、治疗方法、病理特点、康复和随访计划等资料。结果 13例FAVA前期诊断包括：静脉畸形（n=8）、肌间血管瘤（n=2）、肌肉淋巴管畸形（n=1）、动静脉畸形（n=1）和海绵状血管瘤（n=1）。男4例，女9例；诊断年龄为1岁2个月至18岁，平均诊断年龄10岁。下肢病变11例，上肢2例。无一例累及躯干。5例伴有肿胀处皮肤感觉过敏，轻度按压即疼痛剧烈。11例伴社交活动减少，患儿有强烈的自卑感，与同龄人交往减少。1例仅累及上肢患儿口服西罗莫司后疼痛缓解；余12例行手术治疗，均行根治性切除，即在保护重要血管、神经的前提下，扩大切除局限性病变；弥漫性病变则切除受累的整块肌肉和肌筋膜；如重要神经受累，切开松解神经外膜；如有肌腱挛缩导致关节活动障碍，切除受累的整块肌肉和肌筋膜后，还需肌腱延长/转移以重建功能；行手术治疗的12例患儿均留置创面负压引流；肌腱延长/转移者、关节强直松解矫正者石膏固定1~4周。术后随访1~16个月，关节活动障碍治愈或明显好转。结论 FAVA最具特征性的表现为疼痛、挛缩和关节畸形；结合临床特点和MRI特征性表现，诊断并不困难；FAVA的治疗方案应考虑具体分期；在合理手术原则指导下，以外科手术为基础的综合治疗可有效缓解疼痛、改善挛缩和恢复功能。
- Abstract:
- Objective To explore the diagnostic essentials and therapeutic principle of fibro-adipose vascular anomaly(FAVA).Methods Clinical data were retrospectively reviewed for 13 FAVA children.And the relevant data included gender, age at diagnosis, clinical features, anatomic involvement, previous diagnosis and management, radiological features, management, histopathological findings, rehabilitation and follow-up plan.Results From September 2019 to December 2020, a total of 13 cases of FAVA were diagnosed and treated in our center. Early diagnosis included:venous malformation (n=8), intramyaloid hemangioma (n=2), muscular lymphatic malformation (n=1), arteriovenous malformation (n=1) and cavernous hemangioma (n=1). There were 4 males and 9 females; the age at diagnosis ranged from 1 year and 2 months to 18 years old, with an average age of 10 years. 11 cases of lower extremity lesions, 2 cases of upper extremity. None of the cases involved the trunk. 5 cases were accompanied by hypersensitivity of the skin at the swollen part, and the pain was severe when lightly pressed. 11 cases were associated with reduced social activities, and the patients had a strong sense of inferiority and reduced social interaction with their peers. One case of upper limb patient was relieved of pain after oral administration of sirolimus; the remaining 12 cases underwent surgical treatment, and all of them underwent radical resection, that is, under the premise of protecting important blood vessels and nerves, enlarged resection of localized lesions; diffuse lesions resection of involved lesions The entire muscle and myofascia are affected; if important nerves are involved, incision and release of the epineurium are required; if tendon contracture causes joint mobility impairment, after removal of the entire affected muscle and myofascia, tendon lengthening/transfer is required to Reconstruction function; 12 cases were indwelling wound negative pressure drainage; tendon lengthening/transfer, joint ankylosing correction, plaster immobilization for 1 to 4 weeks. The postoperative follow-up was 1-16 months, and the joint mobility disorder was cured or improved significantly.Conclusion The most distinct features of FAVA include pain, contracture and joint deformity.Based upon unique clinical and radiologic features, it is not difficult to make a definite diagnosis of FAVA.The management strategy for FAVA should be formulated according to staging.With appropriate surgical approaches surgery-based management plan is efficacious for relief of pain, contractures and function improvement.
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备注/Memo
收稿日期:2021-02-16。
基金项目:西安国际医学中心医院院级课题（2021QN016）
通讯作者:郭正团,Email:guozhengtuan@hotmail.com