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Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene
Clinical Reviews in Allergy & Immunology ( IF 9.1 ) Pub Date : 2021-01-14 , DOI: 10.1007/s12016-021-08835-8
Jyoti Sharma 1 , Ankur Kumar Jindal 1 , Aaqib Zaffar Banday 1 , Anit Kaur 1 , Amit Rawat 1 , Surjit Singh 1 , Hilary Longhurst 2
Affiliation  

Hereditary Angioedema (HAE) is an autosomal dominant disorder characterized clinically by recurrent episodes of swelling involving subcutaneous tissues, gastrointestinal tract, and oro-pharyngeal area. Gene mutations are the most common genetic cause of HAE and observed in more than 90% of patients. More than 700 mutation variants have been described so far. Patients with angioedema who have no mutations in the gene for C1-INH and normal levels and activity of this inhibitor are labelled: normal C1 inhibitor HAE. These include genetic mutations in factor 12 gene, plasminogen gene, angiopoietin gene, kininogen 1, and myoferlin genes. The clinical manifestations of patients with these mutations are similar to with patients with C1-INH gene mutations. However, a later age of onset, oro-pharyngeal involvement, and higher female preponderance have been reported in these rare subtypes of hereditary angioedema. With the advent and increased accessibility of whole-exome sequencing, it is expected that new genetic defects and novel pathophysiological pathways will be identified in families with HAE of unknown cause or normal C1-INH angioedema. This review covers some of the recent advances in the field of HAE. The review focuses on pathophysiology of HAE beyond the well-known C1-INH deficiency phenotypes, including various biomarkers that can serve the diagnosis and management of these rare disorders.



中文翻译:

超越 SERPING1 基因的遗传性血管性水肿 (HAE) 的病理生理学

遗传性血管性水肿 (HAE) 是一种常染色体显性遗传疾病,临床特征为反复发作的皮下组织、胃肠道和口咽部肿胀。基因突变是 HAE 最常见的遗传原因,在 90% 以上的患者中观察到。迄今为止,已经描述了 700 多种突变变体。C1-INH 基因没有突变且该抑制剂水平和活性正常的血管性水肿患者被标记为:正常 C1 抑制剂 HAE。这些包括因子 12 基因、纤溶酶原基因、血管生成素基因、激肽原 1 和肌成纤维蛋白基因的基因突变。这些突变患者的临床表现与C1-INH基因突变患者的临床表现相似。然而,发病年龄较晚,口咽部受累,据报道,在这些罕见的遗传性血管性水肿亚型中,女性占优势。随着全外显子组测序的出现和可及性的增加,预计将在原因不明的 HAE 或正常 C1-INH 血管性水肿的家族中发现新的遗传缺陷和新的病理生理学途径。这篇综述涵盖了 HAE 领域的一些最新进展。该综述侧重于除众所周知的 C1-INH 缺乏表型之外的 HAE 病理生理学,包括可用于诊断和管理这些罕见疾病的各种生物标志物。预计将在患有不明原因 HAE 或正常 C1-INH 血管性水肿的家族中发现新的遗传缺陷和新的病理生理学途径。这篇综述涵盖了 HAE 领域的一些最新进展。该综述侧重于除众所周知的 C1-INH 缺乏表型之外的 HAE 病理生理学,包括可用于诊断和管理这些罕见疾病的各种生物标志物。预计将在患有不明原因 HAE 或正常 C1-INH 血管性水肿的家族中发现新的遗传缺陷和新的病理生理学途径。这篇综述涵盖了 HAE 领域的一些最新进展。该综述侧重于除众所周知的 C1-INH 缺乏表型之外的 HAE 病理生理学,包括可用于诊断和管理这些罕见疾病的各种生物标志物。

更新日期:2021-01-14
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