■遗传性血管性水肿(HAE)是一种罕见的疾病,其特征是局部和自我限制的血管性水肿(AE)发作。缓激肽(BK)的局部增加介导HAE的AE发作,然而,炎症在HAE中的作用尚未得到充分研究。我们旨在分析炎症介质在AE发作期间在HAE患者中的作用。
■在2019年11月至2022年5月期间就诊于我们门诊的因C1抑制剂缺乏症(HAE-C1INH)或F12基因突变(HAE-FXII)而确诊HAE诊断的患者包括在内。分析人口统计学和临床特征。在无症状期(基线)和HAE发作期间收集血液样本,和急性期反应物(APR),如血清淀粉样蛋白A(SAA),红细胞沉降率(ESR),C反应蛋白(CRP),测定D-二聚体和白细胞。
■78名患者被纳入研究,女性占主导地位(76%,n=59),平均年龄47.8岁(6-88岁)。其中,67%(n=52)的患者患有HAE-C1INH(46分为1型和6分为2型),而33%(n=26)患有HAE-FXII。在无攻击时期,大多数患者表现出正常的SAA水平,ESR,D-二聚体,ACE和WCC。然而,在一部分患者中(16%的SAA,ESR为18%,D-二聚体为14.5%),基线时注意到升高。重要的是,在HAE攻击期间,在88%的患者中观察到SAA显著增加(p<0.0001vs.基线),在65%的ESR中(p=0.003vs.基线)和D-二聚体在71%(p=0.001vs.患者的基线)。17例患者的基线和急性发作水平之间的比较显示,SAAAA存在显着差异(p<0。0001),ESR(p<0.0001)和D-二聚体(p=0.004)。CRP无显著差异(p=0.7),ACE(p=0.67)和WCC(p=0.54)。无论HAE类型如何,这些发现都保持一致,疾病活动或血管性水肿的位置。
在HAE发作期间观察到的APR的全身性增加表明炎症延伸超出局部水肿区域。这一发现强调了炎症途径在HAE中的潜在参与,并强调需要进一步研究它们在HAE病理生理学中的作用。
UNASSIGNED: Hereditary angioedema (HAE) is a rare disease characterized by localized and self-limited angioedema (AE) attacks. A local increase of bradykinin (BK) mediates AE attacks in HAE, however the role of inflammation in HAE has been poorly explored We aim to analyze the role of inflammatory mediators in HAE patients during AE attacks.
UNASSIGNED: Patients with a confirmed HAE diagnosis due to C1 inhibitor deficiency (HAE-C1INH) or patients F12 gene mutations (HAE-FXII) attending to our outpatient clinic between November-2019 and May-2022 were included. Demographic and clinical characteristics were analyzed. Blood samples were collected both during symptom-free periods (baseline) and during HAE attacks, and acute phase reactants (APR), such as serum amyloid A (SAA), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), D-Dimer and white blood cells were measured.
UNASSIGNED: Seventy-eight patients were enrolled in the study, with a predominant representation of women (76%, n=59), and a mean age of 47.8 years (range 6-88). Among them, 67% (n=52) of patients had HAE-C1INH (46 classified as type 1 and 6 as type 2) while 33% (n=26) had HAE-FXII. During attack-free periods, the majority of patients exhibited normal levels of SAA, ESR, D-dimer, ACE and WCC. However, in a subset of patients (16% for SAA, 18% for ESR, and 14.5% for D-dimer), elevations were noted at baseline. Importantly, during HAE attacks, significant increases were observed in SAA in 88% of patients (p< 0.0001 vs. baseline), in ESR in 65% (p= 0.003 vs. baseline) and D-dimer in 71% (p=0.001 vs. baseline) of the patients. A comparison between baseline and acute attack levels in 17 patients revealed significant differences in SAA AA (p<0. 0001), ESR (p<0.0001) and D-dimer (p= 0.004). No significant differences were observed in CRP (p=0.7), ACE (p=0.67) and WCC (p=0.54). These findings remained consistent regardless of HAE type, disease activity or location of angioedema.
UNASSIGNED: The systemic increase in APR observed during HAE attacks suggests that inflammation extends beyond the localized edematous area. This finding underscores the potential involvement of inflammatory pathways in HAE and highlights the need for further investigation into their role in the pathophysiology of HAE.