Song Hao, Mu Tingting, Wang Dan, Zhang Qiang, Song Xicheng
Department of Otorhinolaryngology Head and Neck Surgery, Yantai Yuhuangding Hospital, Qingdao University, Yantai 264000, Shandong province, China; Shandong Provincial Clinical Research Center for Otorhinolaryngologic Diseases, Yantai 264000, Shandong province, China; Yantai Key Laboratory of Otorhinolaryngologic Diseases, Yantai 264000, Shandong province, China; Shandong Provincial Key Laboratory of Neuroimmune Interaction and Regulation, Yantai 264000, Shandong province, China.
Shandong Provincial Clinical Research Center for Otorhinolaryngologic Diseases, Yantai 264000, Shandong province, China; Yantai Key Laboratory of Otorhinolaryngologic Diseases, Yantai 264000, Shandong province, China; Shandong Provincial Key Laboratory of Neuroimmune Interaction and Regulation, Yantai 264000, Shandong province, China.
Am J Emerg Med. 2025 Jul;93:238.e5-238.e8. doi: 10.1016/j.ajem.2025.04.059. Epub 2025 Apr 26.
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.
