Exploring disease-specific metabolite signatures in hereditary angioedema patients

• DOI: 10.3389/fimmu.2024.1324671
• Publication Date: 2024-04-25T12:59:53Z
• Authors: Adine Kanepa; Jingzhi Fan; Dmitrijs Rots; Annija Vaska; Laura Ansone; Monta Briviba; Janis Klovins; Natalja Kurjane; Kristaps Klavins
• Keywords: Hereditary Angioedema

Introduction Hereditary angioedema (HAE) is a rare, life-threatening autosomal dominant genetic disorder caused by deficient and/or dysfunctional C1 esterase inhibitor (C1-INH) (type 1 and type 2) leading to recurrent episodes of edema. This study aims explore HAE patients’ metabolomic profiles identify novel potential diagnostic biomarkers for HAE. The also examined distinguishing from idiopathic (AE). Methods Blood plasma samples 10 (types 1/2) patients, 15 patients with AE, 20 healthy controls were collected in Latvia analyzed using LC-MS based targeted metabolomics workflow. T-test fold change calculation used metabolites significant differences between diseases control groups. ROC analysis was performed evaluate metabolite classification model. Results A total 33 detected quantified. results showed that isovalerylcarnitine, cystine, hydroxyproline the most significantly altered disease Aspartic acid identified as could differentiate AE. mathematical combination (hydroxyproline * cystine)/(creatinine isovalerylcarnitine) diagnosis signature Furthermore, glycine/asparagine ratio Conclusion Our diagnosis. Identifying new may offer enhanced prospects accurate, timely, economical HAE, well tailored treatment selection optimal patient care.