Awashra Ameer, Sawaftah Zaid, Milhem Fathi, Hamdan Dawoud, Odah Ali Bani, Sawafta Ahmad, Ahmad Ola, Khamaysa Jehad, Khader Mohammed, Naseef Omar
Department of Medicine, An Najah National University, Nablus, Palestine.
Department of Radiology, Tubas Turkish Governmental Hospital, Tubas, Palestine.
Radiol Case Rep. 2024 Sep 24;19(12):6286-6291. doi: 10.1016/j.radcr.2024.09.034. eCollection 2024 Dec.
This case report discusses a 64-year-old male with tuberous sclerosis complex (TSC), a genetic disorder characterized by benign tumor formation across multiple organ systems. The patient presented with a spontaneous hemorrhage from a right renal angiomyolipoma, a common and potentially life-threatening manifestation of TSC, particularly in patients with TSC2 mutations. The patient's significant comorbidities, including hypertension and dyslipidemia, further complicated his clinical course. Initial management involved aggressive fluid resuscitation and blood product transfusion, followed by urgent embolization to control active bleeding. Despite developing complications such as transfusion-associated circulatory overload (TACO), the patient was successfully stabilized. This case highlights the necessity for careful monitoring and prompt intervention in patients with TSC, given the high risk of hemorrhage from angiomyolipomas, especially those larger than 3 cm. We also emphasize the importance of differentiating TSC-associated angiomyolipomas from other renal masses, considering the variability in clinical presentation and the potential for late-onset symptoms. Additionally, it highlights the critical role of a multidisciplinary approach in managing TSC patients, addressing both acute complications and long-term surveillance to prevent recurrence and other systemic manifestations of the disease.
本病例报告讨论了一名64岁患有结节性硬化症(TSC)的男性患者,TSC是一种遗传性疾病,其特征是在多个器官系统中形成良性肿瘤。该患者出现了右肾血管平滑肌脂肪瘤自发性出血,这是TSC常见且可能危及生命的表现,尤其是在携带TSC2基因突变的患者中。患者的严重合并症,包括高血压和血脂异常,使他的临床病程更加复杂。初始治疗包括积极的液体复苏和血液制品输注,随后进行紧急栓塞以控制活动性出血。尽管出现了如输血相关循环超负荷(TACO)等并发症,但患者最终成功稳定病情。该病例强调了对TSC患者进行仔细监测和及时干预的必要性,因为血管平滑肌脂肪瘤出血风险高,尤其是那些大于3厘米的肿瘤。我们还强调了区分TSC相关血管平滑肌脂肪瘤与其他肾肿块的重要性,考虑到临床表现的变异性和迟发性症状的可能性。此外,它突出了多学科方法在管理TSC患者中的关键作用,既要处理急性并发症,又要进行长期监测以预防疾病复发和其他全身表现。