ReviewBalkan medical journal2021
Pathophysiology and underlying mechanisms in hereditary angioedema.
Review in Balkan medical journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 9 citations in OpenAlex.
- Long-Term Integrated Safety and Efficacy of Garadacimab for Hereditary Angioedema Prophylaxis.Advances in therapy · 2026Article
- Beyond Swelling: Clinical Insights into the Diagnosis and Management of Hereditary Angioedema.International journal of molecular sciences · 2026Review
- Garadacimab for the long-term prophylaxis of hereditary angioedema.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2026Review
- Endothelial barrier disorder in hereditary angioedema: molecular mechanisms and therapeutic implications.Frontiers in immunology · 2026Review
- Donidalorsen for the Treatment of Hereditary Angioedema: A Review of Clinical Studies.Drug design, development and therapy · 2026Review
- CRISPR-Cas9 gene editing for hereditary angioedema: current treatments and emerging therapies.Annals of medicine and surgery (2012) · 2025Review
- Evaluating functional C1INH with multiple laboratory methods across Hereditary Angioedema types.Frontiers in immunology · 2025Article
- Genital Attacks in Hereditary Angioedema and Their Effects on Sexual Life.Medicina (Kaunas, Lithuania) · 2024Article
- Joint genotype and ancestry analysis identify novel loci associated with atopic dermatitis in African American population.HGG advances · 2024Article
- Systemic inflammation biomarkers during angioedema attacks in hereditary angioedema.Frontiers in immunology · 2024Article
- Rediscovery of a forgotten disease: Hereditary Angioedema.Balkan medical journal · 2021Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This review aims to summarize the main pathophysiological events involved in the development of hereditary angioedema (OMIM#106100). Hereditary angioedema is a rare genetic disease inherited in an autosomal dominant manner and caused by a loss of control over the plasma contact system or kallikrein-kinin system, which results in unrestrained bradykinin generation or signaling. In patients with hereditary angioedema, BK binding to endothelial cells leads to recurrent episodes of swelling at subcutaneous or submucosal tissues that can be life threatening when affecting the upper respiratory tract. The disease can either present with hypocomplementemia owing to the presence of pathogenic variants in the gene encoding complement C1 inhibitor (hereditary angioedema with C1-inhibitor deficiency) or present with normocomplementemia and associate with elevated estrogen levels owing to gain-of-function variants in the genes encoding coagulation proteins involved in the kallikrein-kinin system (namely, coagulation FXII [FXII-associated hereditary angioedema], plasminogen [PLG-associated hereditary angioedema], and high-molecular-weight kininogen [KNG1-associated hereditary angioedema]). Moreover, in recent years, novel pathogenic variants have been described in the genes encoding angiopoietin 1 (ANGPT1-associated hereditary angioedema) and myoferlin (MYOF-associated hereditary angioedema), which further expand the pathophysiological picture of hereditary angioedema.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.