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Abstract：
BACKGROUND: The diagnosis and treatment of fibro-adipose vascular anomaly (FAVA) of the limb remains challenging since this entity is rare and complex. This paper is aimed to describe the clinical and imaging features, staging and management of this underrecognized disease of the limb.
METHODS: Patients diagnosed with FAVA and managed between September 2019 and May 2022 in department of pediatric surgery & vascular anomalies of Xi\'an international medical center hospital were retrospectively reviewed. Data extracted include age at presentation, previous diagnosis, affected muscles, symptoms, previous treatment, our management, and follow-up.
RESULTS: Thirty-two patients with FAVA were diagnosed and managed in our center. There was a female sex predominance, with 23 female (72%) and 9 male (28%) in the cohort. Only one lesion was noticed during infancy; the remaining presented at age 1 to 20 years (median, 7 years). The most commonly involved muscles were gastrocnemius (14/32, 44%) and soleus (13/32, 40%). Swelling (mass), pain and contractures were the most common presentations. MRI featured a heterogeneous and ill-defined intramuscular high signal intensity. Diseases were staged according to clinical features: stage I (pain stage, n = 4), stage II (contracture stage, n = 20) and stage III (deformity stage, n = 8). Patients with stage I disease underwent radical resection and obtained a cure. Patients with stage II disease received radical resection and possible Achilles lengthening, having an outcome of cure. Personalized treatment was required in patients with stage III disease, including radical/partial/staged resection, Achilles lengthening/tenotomy, joint capsulotomy, neurolysis/neurectomy, tendon transfer, stretching exercises, and oral sirolimus/alpelisib. Significant improvement of symptoms was achieved in most.
CONCLUSIONS: The most distinct features of FAVA include enlarging mass, severe pain and contracture. Based on distinct clinical and radiologic features, it is not difficult to make the diagnosis of FAVA. Earlier awareness of this disease can reduce misdiagnoses. Surgery-based comprehensive management can typically improve pain and contracture. Oral sirolimus or alpelisib plays an important role in treatment of unresectable lesions and major nerve involvement. Surgery alone can be curative in early stage FAVA.
METHODS: Patients diagnosed with FAVA and managed between September 2019 and May 2022 in department of pediatric surgery & vascular anomalies of Xi\'an international medical center hospital were retrospectively reviewed. Data extracted include age at presentation, previous diagnosis, affected muscles, symptoms, previous treatment, our management, and follow-up.
RESULTS: Thirty-two patients with FAVA were diagnosed and managed in our center. There was a female sex predominance, with 23 female (72%) and 9 male (28%) in the cohort. Only one lesion was noticed during infancy; the remaining presented at age 1 to 20 years (median, 7 years). The most commonly involved muscles were gastrocnemius (14/32, 44%) and soleus (13/32, 40%). Swelling (mass), pain and contractures were the most common presentations. MRI featured a heterogeneous and ill-defined intramuscular high signal intensity. Diseases were staged according to clinical features: stage I (pain stage, n = 4), stage II (contracture stage, n = 20) and stage III (deformity stage, n = 8). Patients with stage I disease underwent radical resection and obtained a cure. Patients with stage II disease received radical resection and possible Achilles lengthening, having an outcome of cure. Personalized treatment was required in patients with stage III disease, including radical/partial/staged resection, Achilles lengthening/tenotomy, joint capsulotomy, neurolysis/neurectomy, tendon transfer, stretching exercises, and oral sirolimus/alpelisib. Significant improvement of symptoms was achieved in most.
CONCLUSIONS: The most distinct features of FAVA include enlarging mass, severe pain and contracture. Based on distinct clinical and radiologic features, it is not difficult to make the diagnosis of FAVA. Earlier awareness of this disease can reduce misdiagnoses. Surgery-based comprehensive management can typically improve pain and contracture. Oral sirolimus or alpelisib plays an important role in treatment of unresectable lesions and major nerve involvement. Surgery alone can be curative in early stage FAVA.
摘要：
背景：由于该实体罕见且复杂，因此肢体纤维脂肪血管异常（FAVA）的诊断和治疗仍具有挑战性。本文旨在描述临床和影像学特征，这种未被认识到的肢体疾病的分期和管理。
方法：回顾性分析2019年9月至2022年5月在西安国际医疗中心医院儿科外科和血管畸形诊断并治疗的FAVA患者。提取的数据包括演示时的年龄，先前的诊断，受影响的肌肉，症状,以前的治疗,我们的管理,和后续行动。
结果：我们中心诊断并治疗了32例FAVA患者。有女性的性别优势，队列中有23名女性（72％）和9名男性（28％）。在婴儿期仅发现一个病变；其余的在1至20岁时出现（中位数，7年）。最常见的肌肉是腓肠肌（14/32，44％）和比目鱼肌（13/32，40％）。肿胀（质量），疼痛和挛缩是最常见的表现.MRI具有异质性和不明确的肌内高信号强度。根据临床特征对疾病进行分期：I期(疼痛期，n=4),第二阶段(挛缩阶段，n=20）和III期（畸形期，n=8)。患有I期疾病的患者接受了根治性切除术并获得了治愈。II期患者接受根治性切除和可能的跟腱延长，有治愈的结果。III期患者需要个性化治疗，包括根治性/部分/分期切除，跟腱延长术/肌腱切开术,联合囊切开术，神经溶解/神经切除术，肌腱转移,伸展运动,和口服西罗莫司/alpelisib。在大多数情况下，症状得到了显着改善。
结论：FAVA最明显的特征包括肿块增大，严重的疼痛和挛缩。根据不同的临床和放射学特征，诊断FAVA并不难。对这种疾病的早期认识可以减少误诊。基于手术的综合管理通常可以改善疼痛和挛缩。口服西罗莫司或alpelisib在治疗不可切除的病变和主要神经受累中起着重要作用。在早期FAVA中单独手术可以治愈。
方法：回顾性分析2019年9月至2022年5月在西安国际医疗中心医院儿科外科和血管畸形诊断并治疗的FAVA患者。提取的数据包括演示时的年龄，先前的诊断，受影响的肌肉，症状,以前的治疗,我们的管理,和后续行动。
结果：我们中心诊断并治疗了32例FAVA患者。有女性的性别优势，队列中有23名女性（72％）和9名男性（28％）。在婴儿期仅发现一个病变；其余的在1至20岁时出现（中位数，7年）。最常见的肌肉是腓肠肌（14/32，44％）和比目鱼肌（13/32，40％）。肿胀（质量），疼痛和挛缩是最常见的表现.MRI具有异质性和不明确的肌内高信号强度。根据临床特征对疾病进行分期：I期(疼痛期，n=4),第二阶段(挛缩阶段，n=20）和III期（畸形期，n=8)。患有I期疾病的患者接受了根治性切除术并获得了治愈。II期患者接受根治性切除和可能的跟腱延长，有治愈的结果。III期患者需要个性化治疗，包括根治性/部分/分期切除，跟腱延长术/肌腱切开术,联合囊切开术，神经溶解/神经切除术，肌腱转移,伸展运动,和口服西罗莫司/alpelisib。在大多数情况下，症状得到了显着改善。
结论：FAVA最明显的特征包括肿块增大，严重的疼痛和挛缩。根据不同的临床和放射学特征，诊断FAVA并不难。对这种疾病的早期认识可以减少误诊。基于手术的综合管理通常可以改善疼痛和挛缩。口服西罗莫司或alpelisib在治疗不可切除的病变和主要神经受累中起着重要作用。在早期FAVA中单独手术可以治愈。
