Vasculopathy: a possible factor affecting hereditary angioedema
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...
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| Format: | Article |
| Language: | English |
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PAGEPress Publications
2025-02-01
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| Series: | Bleeding, Thrombosis and Vascular Biology |
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| Online Access: | https://www.btvb.org/btvb/article/view/152 |
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| author | Anna Laura Colia Alessandra Ranaldi Rosa Santacroce Giovanna D'Andrea Angela Bruna Maffione Maurizio Margaglione Maria D'Apolito |
| author_facet | Anna Laura Colia Alessandra Ranaldi Rosa Santacroce Giovanna D'Andrea Angela Bruna Maffione Maurizio Margaglione Maria D'Apolito |
| author_sort | Anna Laura Colia |
| collection | DOAJ |
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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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| format | Article |
| id | doaj-art-baef1dd920d842c89cc4246d1d5bdc8b |
| institution | Kabale University |
| issn | 2785-5309 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Bleeding, Thrombosis and Vascular Biology |
| spelling | doaj-art-baef1dd920d842c89cc4246d1d5bdc8b2025-02-05T09:07:00ZengPAGEPress PublicationsBleeding, Thrombosis and Vascular Biology2785-53092025-02-014110.4081/btvb.2025.152Vasculopathy: a possible factor affecting hereditary angioedemaAnna Laura Colia0https://orcid.org/0000-0003-0231-2780Alessandra Ranaldi1https://orcid.org/0009-0009-1701-5309Rosa Santacroce2Giovanna D'Andrea3https://orcid.org/0000-0003-0722-8326Angela Bruna Maffione4https://orcid.org/0000-0003-2796-7740Maurizio Margaglione5https://orcid.org/0000-0001-5627-9221Maria D'Apolito6https://orcid.org/0000-0001-9170-4668Medical Genetics, Department of Clinical and Experimental Medicine, University of FoggiaMedical Genetics, Department of Clinical and Experimental Medicine, University of FoggiaMedical Genetics, Department of Clinical and Experimental Medicine, University of FoggiaMedical Genetics, Department of Clinical and Experimental Medicine, University of FoggiaAnatomy Institute, Department of Clinical and Experimental Medicine, University of FoggiaMedical Genetics, Department of Clinical and Experimental Medicine, University of FoggiaMedical Genetics, Department of Clinical and Experimental Medicine, University of Foggia 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. https://www.btvb.org/btvb/article/view/152AngioedemaC1 inhibitorgenetics |
| spellingShingle | Anna Laura Colia Alessandra Ranaldi Rosa Santacroce Giovanna D'Andrea Angela Bruna Maffione Maurizio Margaglione Maria D'Apolito Vasculopathy: a possible factor affecting hereditary angioedema Bleeding, Thrombosis and Vascular Biology Angioedema C1 inhibitor genetics |
| title | Vasculopathy: a possible factor affecting hereditary angioedema |
| title_full | Vasculopathy: a possible factor affecting hereditary angioedema |
| title_fullStr | Vasculopathy: a possible factor affecting hereditary angioedema |
| title_full_unstemmed | Vasculopathy: a possible factor affecting hereditary angioedema |
| title_short | Vasculopathy: a possible factor affecting hereditary angioedema |
| title_sort | vasculopathy a possible factor affecting hereditary angioedema |
| topic | Angioedema C1 inhibitor genetics |
| url | https://www.btvb.org/btvb/article/view/152 |
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