Chen Lihua, Guan Jianhua, Ni Yunfeng
Department of Encephalopathy, The Third Affiliated People's Hospital of Fujian University of Traditional Chinese Medicine, Fuzhou, China.
Department of Cerebrovascular Diseases, Fujian Medical University Union Hospital, Fuzhou, China.
Front Cardiovasc Med. 2025 Sep 3;12:1650286. doi: 10.3389/fcvm.2025.1650286. eCollection 2025.
Hereditary protein C deficiency (HPCD) is a rare autosomal dominant thrombophilia caused by PROC gene mutations, predisposing patients to venous thrombosis. Patent foramen ovale (PFO) with right-to-left shunt (RLS) may facilitate paradoxical embolism, increasing the risk of stroke and pulmonary embolism. However, the coexistence of HPCD and PFO leading to multisystem embolism has not been previously reported. We report a 29-year-old woman presenting with sudden-onset altered consciousness. The patient had no traditional cerebrovascular risk factors other than oral contraceptive use. Imaging revealed basilar artery occlusion, left pulmonary embolism, and bilateral iliac vein thrombosis. Laboratory testing demonstrated reduced protein C activity, and genetic analysis identified a heterozygous pathogenic PROC variant (c.541T>G, p.Phe181Val). Transcranial Doppler bubble study, transesophageal echocardiography (TEE), and agitated saline contrast echocardiography (ASCE) confirmed a PFO with grade 3 RLS. The patient was diagnosed with HPCD combined with PFO. She underwent emergent mechanical thrombectomy, inferior vena cava (IVC) filter placement, subsequent PFO closure, and lifelong rivaroxaban therapy. At 1-year follow-up, she exhibited excellent clinical recovery with complete resolution of symptoms and no evidence of recurrent thromboembolic events. This first-reported case highlights the potential synergistic thrombotic risk of coexisting HPCD and PFO. For patients with unexplained multisystem embolism, thorough evaluation of both conditions is essential, and individualized comprehensive treatment strategies are crucial for a good prognosis.
遗传性蛋白C缺乏症（HPCD）是一种由PROC基因突变引起的罕见常染色体显性遗传性易栓症，使患者易发生静脉血栓形成。伴有右向左分流（RLS）的卵圆孔未闭（PFO）可能会促进反常栓塞，增加中风和肺栓塞的风险。然而，HPCD和PFO共存导致多系统栓塞此前尚未见报道。我们报告一名29岁突发意识改变的女性。除使用口服避孕药外，该患者无传统的脑血管危险因素。影像学检查显示基底动脉闭塞、左肺栓塞和双侧髂静脉血栓形成。实验室检查显示蛋白C活性降低，基因分析鉴定出一个杂合致病性PROC变异体（c.541T>G，p.Phe181Val）。经颅多普勒气泡试验、经食管超声心动图（TEE）和生理盐水激发对比超声心动图（ASCE）证实存在3级RLS的PFO。该患者被诊断为HPCD合并PFO。她接受了紧急机械取栓术、下腔静脉（IVC）滤器置入术、随后的PFO封堵术以及终身利伐沙班治疗。在1年的随访中，她临床恢复良好，症状完全缓解，且无复发性血栓栓塞事件的证据。这例首次报道的病例凸显了HPCD和PFO共存潜在的协同血栓形成风险。对于不明原因的多系统栓塞患者，对这两种情况进行全面评估至关重要，个体化的综合治疗策略对于良好预后至关重要。
