Familial Arteriovenous Malformation in Extremity: A Case Report

Bima Satriono Purwanto, Mohammad Hardian Basuki, S. Mustokoweni, Paulus Rahardjo, F. Mahyudin, M. Edward
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Abstract

Arteriovenous malformation (AVM) is a genetic vascular anomaly that can significantly affect daily activities. Its occurrence varies by race and gender, being more common in women. This report examines AVM in two siblings, aged 12 and 14. Clinical, radiological, and pathological evaluations revealed differing tumor sizes, expansions, and causes of vascular enlargement. Consequently, the siblings received different treatments: one underwent embolization, while the other had a wide excision. Both approaches resulted in favorable outcomes. AVM is a vascular neoplasm that may present at birth or be discovered later, often during routine check-ups or after trauma. The familial nature of AVM in this case emphasizes the variability in presentation and treatment response. Established diagnostic and therapeutic guidelines may not always be applicable, necessitating individualized treatment plans. This case highlights the importance of tailored treatment approaches for familial AVM, demonstrating successful outcomes with both embolization and wide excision
家族性肢体动静脉畸形:病例报告
动静脉畸形(AVM)是一种遗传性血管异常,会严重影响日常活动。其发生率因种族和性别而异,女性更为常见。本报告研究了两个年龄分别为 12 岁和 14 岁的兄弟姐妹的动静脉畸形。临床、放射学和病理学评估显示,肿瘤的大小、扩张程度和血管扩张的原因各不相同。因此,这对兄妹接受了不同的治疗:一个接受了栓塞术,另一个则接受了广泛切除术。两种方法都取得了良好的疗效。动静脉畸形是一种血管肿瘤,可能在出生时出现,也可能在出生后才被发现,通常是在常规体检或外伤后发现。本病例中的 AVM 具有家族性,这强调了其表现和治疗反应的多变性。既定的诊断和治疗指南可能并不总是适用,因此有必要制定个性化的治疗方案。本病例强调了对家族性 AVM 采用针对性治疗方法的重要性,并展示了栓塞和广泛切除术的成功治疗效果。
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