Hereditary angioedema - C1INH deficiency and beyond

Hereditary angioedema (HAE) is a potentially life-threatening genetic disorder characterized by recurrent swelling attacks. Recent advances in genetics have identified new variations that lead to uncontrolled bradykinin activation and resultant angioedema. Simultaneously, novel treatments have emerged, significantly improving the quality of life and reducing mortality for affected patients. However, HAE with normal C1INH presents diagnostic challenges. Deepening our understanding of these atypical variants is crucial for accurate diagnosis and effective treatment. This research topic aims to shed light on these less understood aspects of HAE, striving to enhance patient care and outcomes.

Our Research Topic aims to unravel the complexities of hereditary angioedema (HAE), with a special focus on atypical variants like HAE with normal C1INH and acquired bradykinin-mediated angioedema. Despite advancements in genetics and treatment improving patient outcomes, challenges in diagnosis and management persist. We seek innovative research on emerging diagnostics, novel therapies, new biomarkers, and genetic insights. Contributions should merge interdisciplinary knowledge, offering fresh perspectives. Authors are encouraged to clearly present their findings in an engaging, accessible manner for both experts and a wider scientific audience, contributing to a deeper understanding and improved care for HAE patients.

This Research Topic seeks to explore hereditary angioedema (HAE), focusing on atypical variants such as HAE with normal C1INH and acquired bradykinin-mediated angioedema. We invite original research, in-depth case studies, comprehensive reviews, systematic meta-analyses, and letters that offer new insights into these less explored forms. Key themes include novel diagnostic methods, emerging therapeutic strategies, and the identification of groundbreaking biomarkers and genetic factors. Our goal is to foster advancements in understanding and managing these underrecognized variants of HAE, thereby enhancing patient care and facilitating a dynamic, interdisciplinary dialogue within the scientific community.

Topic Editor Andreas Recke is an employee of the University Hospital of Schleswig-Holstein, Campus Lübeck; I received speaker and consultation honoraria, conference travel support, and sponsoring for conferences organized on behalf of the University Hospital Schleswig-Holstein, Campus Lübeck, by Takeda Pharmaceuticals Company Ltd., BioCryst Pharma Deutschland GmbH, Pharvaris, Pharming Group NV, and CSL Behring GmbH. Topic Editor Anthony Dorr has received speaker/consultancy fees, funding to attend conferences and/or participated in advisory boards for BioCryst Pharmaceuticals, CSL Behring, KalVista, Otsuka Pharmaceuticals, Pharming, and Takeda Pharmaceuticals. He has also served as a principle investigator or sub-investigator for clinical trials sponsored by BioCryst Pharmaceuticals, Ionis Pharmaceuticals, KalVista Pharmaceuticals, Pharvaris and Takeda Pharmaceuticals.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Classification
• Clinical Trial
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• ... View all formats

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Classification
• Clinical Trial
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Review
• Systematic Review
• Technology and Code

Keywords: hereditary, angioedema, genetics, complement system, bradykinin, kallikrein, treatment

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.