与多种突变相关的高凝血病继发双侧多发性复发性视网膜分支静脉闭塞:罕见病例报告

Ayşe Gül Altıntaş, Eren Ekici
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引用次数: 0

摘要

视网膜静脉阻塞(RVO)是一种相对常见的血管疾病,通常会导致严重的视力损伤。我们介绍了一例有趣的病例,患者是一名 53 岁的男性,因潜在的高凝血病导致双侧分支视网膜静脉阻塞反复发作。这种复杂的情况包括同时发生的双侧 RVO 和随后的单侧复发。尽管没有全身性合并症或常规风险因素,但遗传评估发现了涉及因子 V Leiden(G1691A)和因子 II(PT G20210A)的显著杂合突变,以及同源的亚甲基四氢叶酸还原酶 A1298C 突变。虽然常规血液学指标基本无异常,但抗血管内皮生长因子(anti-VEGF)药物疗效显著,尤其是在及时用药的情况下,成为一种值得注意的治疗途径。该病例强调了在复发性 RVO 的年轻患者中仔细检查血栓突变的必要性,突出了抗血管内皮生长因子干预对视网膜的良好反应,并强调了及时临床干预的益处。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Bilateral multiple recurrent branch retinal vein occlusions secondary to hypercoagulopathy associated with multiple mutations: A rare case report
Retinal vein occlusions (RVOs) are relatively common vascular disorders, often resulting in significant visual impairment. We present an intriguing case of a 53-year-old male with recurrent bilateral branch RVOs stemming from underlying hypercoagulopathy. This complex scenario encompassed simultaneous bilateral RVO occurrences and subsequent unilateral recurrences. Despite the absence of systemic comorbidities or conventional risk factors, genetic assessment unveiled notable heterozygous mutations involving Factor V Leiden (G1691A) and Factor II (PT G20210A), along with a homozygous methylenetetrahydrofolate reductase A1298C mutation. While routine hematological indicators remained largely unremarkable, the marked efficacy of anti-vascular endothelial growth factor (anti-VEGF) agents, particularly when administered promptly, emerged as a noteworthy therapeutic avenue. This case underscores the imperative of scrutinizing thrombotic mutations in youthful patients with recurrent RVOs, accentuating the favorable retinal response to anti-VEGF interventions and emphasizing the rewards of timely clinical intervention.
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