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白塞病与凝血因子V Leiden:一种导致布加综合征的血栓形成协同作用。

Behçet's disease and factor V Leiden: A thrombogenic synergy causing budd-chiari syndrome.

作者信息

Awashra Ameer, Sawaftah Zaid, Bishawi Salsabeel, Eid Aseel, Milhem Aya, Hamdan Dawoud, Odah Ali Bani, Sawafta Ahmad, Khamaysa Jehad, Ghannam Yazan, Rabee Hadi

机构信息

Department of Medicine, An Najah National University, Nablus, Palestine.

Department of Radiology, Tubas Turkish Governmental Hospital, Tubas, Palestine.

出版信息

Radiol Case Rep. 2024 Dec 6;20(2):1257-1262. doi: 10.1016/j.radcr.2024.11.041. eCollection 2025 Feb.

Abstract

Behçet's Disease (BD) is a multisystem inflammatory disorder that can lead to severe vascular complications, including Budd-Chiari Syndrome (BCS), a rare but life-threatening condition characterized by hepatic vein obstruction. The co-occurrence of BD and inherited thrombophilia, such as Factor V Leiden mutation, significantly increases the risk of thrombosis, complicating the clinical management of affected individuals. In this case, a 16-year-old female initially presented with nonspecific symptoms of generalized fatigue and bone pain, which later progressed to abdominal distension and significant hepatosplenomegaly. Imaging and further diagnostic evaluation confirmed BCS as the initial manifestation of BD, a rare but severe complication. Genetic testing revealed a heterozygous mutation for Factor V Leiden and the presence of the HLA-B51 allele, highlighting a thrombogenic synergy between BD and inherited thrombophilia. Aggressive anticoagulation therapy was initiated, resulting in partial recanalization of the hepatic veins and stabilization of the patient's condition. This case emphasizes the need for early consideration of BCS in BD patients, especially in those with concurrent prothrombotic disorders, as timely intervention is crucial for improving clinical outcomes. The interplay of autoimmune and genetic factors in this case provides valuable insights into the complex pathophysiology and management of BCS associated with BD.

摘要

白塞病(BD)是一种多系统炎症性疾病,可导致严重的血管并发症,包括布加综合征(BCS),这是一种罕见但危及生命的疾病,其特征为肝静脉阻塞。BD与遗传性易栓症(如因子V莱顿突变)同时出现,会显著增加血栓形成的风险,使受影响个体的临床管理变得复杂。在本病例中,一名16岁女性最初出现全身疲劳和骨痛等非特异性症状,随后发展为腹胀和明显的肝脾肿大。影像学检查和进一步的诊断评估证实BCS是BD的初始表现,这是一种罕见但严重的并发症。基因检测发现因子V莱顿杂合突变以及HLA - B51等位基因的存在,凸显了BD与遗传性易栓症之间的血栓形成协同作用。启动了积极的抗凝治疗,导致肝静脉部分再通,患者病情稳定。该病例强调了BD患者尤其是合并血栓前状态疾病的患者需要早期考虑BCS,因为及时干预对于改善临床结局至关重要。本病例中自身免疫和遗传因素的相互作用为与BD相关的BCS的复杂病理生理学和管理提供了有价值的见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e11a/11665683/ad041e309cef/gr1.jpg

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