Work

Hereditary angioedema-induced laryngeal edema: A diagnostic and therapeutic race against time

Year: 2025

Type: article

Abstract: 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.

Source: The American Journal of Emergency Medicine

DOI: 10.1016/j.ajem.2025.04.059

Authors: Hao Song, Tingting Mu, Dan Wang, Qiang Zhang, Xicheng Song

Institutions: Qingdao University, Yuhuangding Hospital

Language: English

Topic: Coagulation, Bradykinin, Polyphosphates, and Angioedema

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,980