Hereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patients.

ABSTRACT: Hereditary angioedema (HAE) poses diagnostic challenges due to its episodic, non-specific symptoms and overlapping conditions. This study focuses on the genetic basis of HAE, particularly focusing on unresolved cases and those with normal C1-inhibitor levels (nC1-INH HAE). This study reveals that conventional testing identified pathogenic variants in only 10 patients (n = 32), emphasizing the necessity for an integrative approach using genome, exome, and transcriptome sequencing. Despite extensive genetic analyses, the diagnostic yield for nC1-INH HAE remains low in our study, the pathogenic variant for nC1-INH HAE was identified in only 1 patient (n = 21). Investigation into candidate genes yielded no pathogenic variants, prompting a re-evaluation of patients' diagnoses. This study advoca

SUBMITTER: Rozevska M 

PROVIDER: S-EPMC10981324 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature