遗传性血管水肿
水肿
血管性水肿
喉水肿
医学
种族(生物学)
皮肤病科
病理
外科
生物
植物
作者
Song Hao,Tingting Mu,Dan Wang,Qiang Zhang,Xicheng Song
标识
DOI:10.1016/j.ajem.2025.04.059
摘要
Hereditary angioedema (HAE) is a rare genetic disorder causing recurrent episodes of subcutaneous and submucosal edema, with laryngeal involvement posing a risk of fatal airway obstruction. We report a 34-year-old male presenting with progressive facial and oropharyngeal swelling, leading to severe respiratory distress unresponsive to standard therapy. An emergency tracheotomy was performed, and further evaluation confirmed Hereditary Angioedema-induced Laryngeal Edema (HALE). The patient improved with icatibant and was placed on lanadelumab prophylaxis. Genetic analysis to confirm the presence of SERPING1 mutations was not conducted in this case, which remains a limitation for further genotype-phenotype correlation studies. This case highlights the need for early recognition and targeted therapy in HALE to prevent life-threatening complications.
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