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Driving towards Precision Medicine for angioedema without wheals
Anastasios E Germenis1, Marco Cicardi2
1Department of Immunology & Histocompatibility, School of Medicine, University of Thessaly, Larissa, Greece.
Journal of Autoimmunity
|August 13, 2019
Summary
Recurrent angioedema without wheals is more complex than previously thought, with new genetic variants identified. High-throughput approaches are needed for better understanding and personalized treatment of this rare disease.
Area of Science:
- Genetics
- Immunology
- Rare Diseases
Background:
- Recurrent angioedema without wheals is a complex group of disorders.
- Recent discoveries reveal novel genetic variants beyond SERPING1 and F12.
- One variant suggests a new endotype not reliant on bradykinin.
Purpose of the Study:
- To review recent data on angioedema complexity.
- To advocate for a shift towards high-throughput research methods.
- To highlight the benefits of precision medicine for angioedema.
Main Methods:
- Review of recent genetic and functional studies.
- Analysis of novel gene variants associated with hereditary angioedema.
- Discussion of high-throughput approaches for disease research.
Main Results:
- Identification of novel gene variants (e.g., ANGPT1) in hereditary angioedema.
- Evidence for a new disease endotype independent of bradykinin.
- Conventional research methods are insufficient to elucidate disease complexity.
Conclusions:
- Angioedema research requires a paradigm shift to high-throughput methodologies.
- Precision medicine offers a promising future for personalized patient management.
- A deeper understanding of angioedema's complexity is crucial for effective treatment.
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