Abstract：
Hughes-Stovin syndrome is a rare disease characterized by thrombophlebitis and multiple pulmonary and/or bronchial aneurysms. The etiology and pathogenesis of HSS are incompletely known. The current consensus is that vasculitis underlies the pathogenic process, and pulmonary thrombosis follows arterial wall inflammation. As such, Hughes-Stovin syndrome may belong to the vascular cluster with lung involvement of Behçet syndrome, although oral aphtae, arthritis, and uveitis are rarely found. Behçet syndrome is a multifactorial polygenic disease with genetic, epigenetic, environmental, and mostly immunological contributors. The different Behçet syndrome phenotypes are presumably based upon different genetic determinants involving more than one pathogenic pathway. Hughes-Stovin syndrome may have common pathways with fibromuscular dysplasias and other diseases evolving with vascular aneurysms. We describe a Hughes-Stovin syndrome case fulfilling the Behçet syndrome criteria. A MYLK variant of unknown significance was detected, along with other heterozygous mutations in genes that may impact angiogenesis pathways. We discuss the possible involvement of these genetic findings, as well as other potential common determinants of Behçet/Hughes-Stovin syndrome and aneurysms in vascular Behçet syndrome. Recent advances in diagnostic techniques, including genetic testing, could help diagnose a specific Behçet syndrome subtype and other associated conditions to personalize the disease management.
摘要：
Hughes-Stovin综合征是一种罕见的疾病，其特征是血栓性静脉炎和多发性肺和/或支气管动脉瘤。HSS的病因和发病机制尚不完全清楚。目前的共识是血管炎是致病过程的基础，动脉壁炎症后出现肺血栓。因此，Hughes-Stovin综合征可能属于Behçet综合征肺受累的血管簇，虽然口述阿普泰，关节炎,很少发现葡萄膜炎。Behçet综合征是一种多因素多基因疾病，表观遗传,环境,主要是免疫学贡献者。不同的Behçet综合征表型可能是基于涉及一种以上致病途径的不同遗传决定因素。Hughes-Stovin综合征可能与纤维肌肉发育不良和其他随血管动脉瘤发展的疾病有共同的途径。我们描述了符合Behçet综合征标准的Hughes-Stovin综合征病例。检测到未知意义的MYLK变异体，以及其他可能影响血管生成途径的基因杂合突变。我们讨论了这些基因发现的可能参与，以及Behçet/Hughes-Stovin综合征和血管Behçet综合征中动脉瘤的其他潜在共同决定因素。诊断技术的最新进展，包括基因检测,可以帮助诊断特定的Behçet综合征亚型和其他相关疾病，以个性化疾病管理。
