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首页> 外文期刊>Allergy >Type III hereditary angio-oedema: clinical and biological features in a French cohort.
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Type III hereditary angio-oedema: clinical and biological features in a French cohort.

机译：III型遗传性血管性水肿：法国人群的临床和生物学特征。

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BACKGROUND: Hereditary angio-oedema (HAE) has been associated with C1inhibitor deficiency. The first cases of type III HAE were described in patients with normal C1Inh antigenic protein level and function and normal C4 levels in 2000. This finding has been reported mostly in women with a family history and may be influenced by exogenous oestrogen exposure. OBJECTIVES: The purpose of this article is to describe the clinical, biological and genetic characteristics of a French population suffering from type III HAE. PATIENTS AND METHODS: We conducted a retrospective analysis of angio-oedema (AE) cases seen in the National Reference Centre of AE between 2000 and 2009. RESULTS: We found 26 patients (from 15 unrelated families) with type III HAE. All but four were women and presented with typical AE attacks, exacerbated by pregnancy or oral contraceptives containing oestrogens (OC). We also found that 54.5% of women were worsened with oestrogen and 23% were oestrogen dependent. All patients improved on long-term prophylactic tranexamic acid treatment; some acute attacks improved with C1Inh concentrate infusion. All of the patients had normal C1Inh and C4 levels. C1Inh function was also normal, except in women receiving OC or during a pregnancy: transient, moderately low levels (32-74% of the normal range) were found in 18 patients tested (67%). No SERPING1 gene mutation was found. Six patients from three unrelated families were heterozygous for an F12 gene variant. CONCLUSION: Diagnosis of type III HAE should be based on clinical (typical attacks, often hormonally influenced), laboratory (normal C1Inh antigenic protein) and genetic (F12 gene mutation) evidence.
机译：背景：遗传性血管性水肿（HAE）与C1抑制剂缺乏有关。 2000年，在C1Inh抗原蛋白水平和功能正常且C4水平正常的患者中描述了第一批III型HAE病例。这一发现主要在有家族病史的女性中得到报道，并且可能受外源雌激素暴露的影响。目的：本文的目的是描述患有III型HAE的法国人群的临床，生物学和遗传特征。患者与方法：我们对2000年至2009年间在美国国家AE参考中心发现的血管性水肿（AE）病例进行了回顾性分析。结果：我们发现26例III型HAE患者（来自15个无关家庭）。除四名外，其他所有妇女均表现为典型的AE发作，并因怀孕或含有雌激素（OC）的口服避孕药而加剧。我们还发现54.5％的女性因雌激素而恶化，而23％的女性依赖雌激素。所有患者均接受长期预防性氨甲环酸治疗; C1Inh浓缩液输注可改善一些急性发作。所有患者的C1Inh和C4水平均正常。 C1Inh功能也正常，除了接受OC的妇女或怀孕期间：在接受测试的18位患者中（67％）发现了短暂的中度低水平（正常范围的32-74％）。找不到SERPING1基因突变。来自三个不相关家庭的六名患者是F12基因变异的杂合子。结论：III型HAE的诊断应基于临床（典型的发作，通常受到激素影响），实验室（正常的C1Inh抗原蛋白）和遗传（F12基因突变）证据。

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