GENOTYPING OF HEREDITARY ANGIOEDEMA, BEYOND PHENOTYPE: CASE SERIES

• Published in: Annals of allergy, asthma, & immunology Vol. 131; no. 5; pp. S140 - S141
• Main Authors: Roman, J., Hernandez, M. Zarate, Gonzalez-Diaz, S., Ortega, N. Acuna
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01-11-2023
• ISSN: 1081-1206; 1534-4436
• DOI: 10.1016/j.anai.2023.08.428

Hereditary angioedema (HAE) is an inborn error of immunity, presenting recurrent attacks of angioedema, effects 1:50,000 people in the world. More than 700 variants of the SERPING1 gene linked to the development of HAE type 1-2 have been reported, 20-25% of cases present de novo mutation in SERPING1. No correlation between the phenotype and genetic variants has been determined. The objective was to describe the clinical characteristics and genetic mutations identified in patients with HAE in a third level hospital.
Six cases are reported, with distribution by gender: 83.3% female, 16.6% male, the age of onset ranged from 3-23 years (mean 12.16 years), mean time in years of delay of diagnosis of 12.1, 50% presented respiratory symptoms as the initial manifestation, 50% recurrent abdominal pain, the most frequently affected body area was the face in 100%, 83.3% were classified as HAE type I according to levels of C1-inhibitor and C4, in 66.6% a history was identified hereditary familial HAE; 83.3% received treatment on demand; 66.6% reported a mutation in intron 2 of SERPING 1, C.51+1G>C, a patient with a change in the sequence of the following protein in exon 3p. (Asp144Glyfs113).
The lack of identification of unusual causes of angioedema can put the patient in a potentially fatal situation, this is the case of HAE, for which identifying and genotyping patients with this pathology can contribute to equating genomic variants not described so far and thus being able to offer timely treatment.