A Case of Recurrent Laryngopharyngofacial Edema Diagnosed as Hereditary Angioedema (HAE) after Long-Term Follow-Up

The autosomal dominant disorder hereditary angioedema (HAE) causes recurrent subcutaneous or submucosal edema at any body site due to trauma, mental or physical stress, infection, or cold stimulation, making laryngeal edema potentially life-threatening. We report a case of recurrent laryngopharyngofacial edema diagnosed as HAE only after long-term follow-up. A 20-year-old woman seen for edema of the face and larynx suffered recurrent acute episodes of the face, throat, and trunk edema and was treated for idiopathic recurrent edema. Life-threatening laryngeal edema a year later resulted in life-saving blind nasal emergency-room intubation. She was eventually diagnosed with HAE based on low serum C1-inhibitor activity and a lower C4 complement 5 years after her first admission. Thereafter, her life-threatening edema necessitated tracheotomy. She is now treated daily with 1500 mg of tranexamic acid for prophylaxis. HAE must be detected as early as possible, which necessitates extensive personel interviews with the subject and family members if possible. Greater awareness of HAE among health-care professionals and patients would also be useful.