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

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dc.contributor.authorRozevska, Marija
dc.contributor.authorKaņepa, Adīne
dc.contributor.authorPuriņa, Signe
dc.contributor.authorGailīte, Linda
dc.contributor.authorNartiša, Inga
dc.contributor.authorFarkas, Henriette
dc.contributor.authorRots, Dmitrijs
dc.contributor.authorKurjāne, Nataļja
dc.contributor.institutionRīga Stradiņš University
dc.date.accessioned2024-04-02T08:05:01Z
dc.date.available2024-04-02T08:05:01Z
dc.date.issued2024-03-30
dc.descriptionPublisher Copyright: © The Author(s) 2024.
dc.description.abstractHereditary 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 advocates for a nuanced approach to genetic testing, recognizing its limitations and emphasizing the need for continuous clinical assessment. The complex genetic landscape of nC1-INH HAE necessitates further research for a more comprehensive understanding. In conclusion, this study contributes valuable insights into the genetic intricacies of HAE, highlighting the challenges in diagnosis and the evolving nature of the disease. The findings underscore the importance of advanced sequencing techniques and an integrated diagnostic strategy in unravelling the complexities of HAE, particularly in nС1-INH HAE cases.en
dc.description.statusPeer reviewed
dc.format.extent6
dc.format.extent1686911
dc.identifier.citationRozevska, M, Kaņepa, A, Puriņa, S, Gailīte, L, Nartiša, I, Farkas, H, Rots, D & Kurjāne, N 2024, 'Hereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patients', Allergy, Asthma & Clinical Immunology, vol. 20, no. 1, 28, pp. 1-6. https://doi.org/10.1186/s13223-024-00889-5
dc.identifier.doi10.1186/s13223-024-00889-5
dc.identifier.issn1710-1492
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/15407
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85188930716&partnerID=8YFLogxK
dc.identifier.urlhttps://aacijournal.biomedcentral.com/articles/10.1186/s13223-024-00889-5
dc.language.isoeng
dc.relation.ispartofAllergy, Asthma & Clinical Immunology
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectDiagnostic challenges
dc.subjectUnresolved cases
dc.subjectExome sequencing
dc.subjectGenome sequencing
dc.subjectDiagnostic yield
dc.subject3.1 Basic medicine
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.titleHereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patientsen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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