Department of Pediatrics, Selçuk University, Faculty of Medicine, Konya, Turkey.
Clin Exp Immunol. 2010 Mar;159(3):238-44. doi: 10.1111/j.1365-2249.2009.04044.x. Epub 2009 Nov 12.
Autosomal recessive, autosomal dominant and the sporadic forms of hyperimmunoglobulin E syndrome (HIES) are multi-system disorders. Although HIES patients may present with cold abscesses, the vascular features of HIES are not well recognized. The objective of this review is to characterize the nature and spectrum of vascular abnormalities in HIES patients. Vascular abnormalities in HIES patients were reviewed with Medline and Google Scholar-based searches. In brief, the searches combined terms related to HIES with the terms related to vasculature. Furthermore, reference lists from the original studies and review papers identified were screened. There were vascular abnormalities in 25 patients with HIES. These abnormalities were identified as aneurysms (coronary, aortic, carotid and cerebral), pseudoaneurysms, congenital patent ductus venosus, superior vena cava syndrome, vasculitides, vascular ectasia, thrombosis and others. They may be congenital or acquired, in the veins and arteries, affecting both sexes. These abnormalities can be seen in all subtypes of HIES. They could be also fatal in children and adults. Limited pathological investigations revealed the presence of vasculitis. Three of the patients were found to have overlap diseases. In this review, the spectrum of vascular abnormalities in HIES are documented and discussed in detail for the first time. They highlight a previously under-recognized and potentially devastating complication of these disorders. These vascular abnormalities constitute one of the major clinical characteristics in HIES. The presence of hypereosinophilia, vasculitis and defective angiogenesis in HIES may contribute to the formation of vascular abnormalities in HIES.
常染色体隐性遗传、常染色体显性遗传和散发型高免疫球蛋白 E 综合征（HIES）是多系统疾病。尽管 HIES 患者可能出现冷脓肿，但 HIES 的血管特征尚未得到充分认识。本综述的目的是描述 HIES 患者血管异常的性质和范围。通过 Medline 和基于 Google Scholar 的搜索回顾了 HIES 患者的血管异常。简而言之，这些搜索将与 HIES 相关的术语与与脉管系统相关的术语相结合。此外，还筛选了原始研究和综述论文的参考文献列表。有 25 名 HIES 患者存在血管异常。这些异常包括动脉瘤（冠状动脉、主动脉、颈动脉和脑动脉）、假性动脉瘤、先天性动脉导管未闭、上腔静脉综合征、血管炎、血管扩张、血栓形成和其他异常。它们可能是先天性或后天性的，发生在静脉和动脉中，影响两性。这些异常可发生在 HIES 的所有亚型中。它们在儿童和成人中也可能是致命的。有限的病理研究表明存在血管炎。其中 3 名患者被发现患有重叠疾病。在本次综述中，首次详细记录和讨论了 HIES 中的血管异常谱。它们突出了这些疾病以前未被认识到的潜在破坏性并发症。这些血管异常构成了 HIES 的主要临床特征之一。HIES 中嗜酸性粒细胞增多、血管炎和血管生成缺陷的存在可能导致血管异常的形成。
