Vasculopathy: a possible factor affecting hereditary angioedema
Published: February 4 2025
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
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Hereditary angioedema (HAE) is a rare genetic disorder that causes swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway. The SERPING1 gene, encoding the C1-INH, determines the wide range of clinical symptoms associated with CI-INH deficient HAE. C1-INH regulates enzymes involved in bradykinin production, leading to increased vascular permeability and angioedema. The most prevalent cause of this condition is either a deficiency or dysfunction of C1-INH. A subset of patients exhibits a third form of HAE (nC1-INH-HAE). This clinical subtype, distinguished by the absence of mutations in SERPING1, has a clinical picture similar to C1-INH-HAE but with normal C1-INH level and activity. This review summaries recent progress in genetic characterization of angioedema and discusses future potential for identifying additional genetic abnormalities in HAE. The elucidation of mechanisms leading to HAE could contribute to better understanding of the endothelial cell physiopathology.
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Vasculopathy: a possible factor affecting hereditary angioedema. (2025). Bleeding, Thrombosis and Vascular Biology, 4(1). https://doi.org/10.4081/btvb.2025.152
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