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J Allergy Clin Immunol Pract. 2019 Oct 24. pii: S2213-2198(19)30869-4. doi: 10.1016/j.jaip.2019.10.004. [Epub ahead of print]

International Consensus on the Use of Genetics in the Management of Hereditary Angioedema.

Author information

1
Department of Immunology and Histocompatibility, School of Health Sciences, Faculty of Medicine, University of Thessaly, Larissa, Greece; CeMIA SA, Larissa, Greece. Electronic address: agermen@med.uth.gr.
2
Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.
3
Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
4
3rd Department of Internal Medicine, Hungarian Angioedema Center, Semmelweis University, Budapest, Hungary.
5
Department of Biomedicine, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
6
Centre for Biomedical Network Research on Rare Diseases (CIBERER) at Hospital La Paz Research Institute-IdiPAZ, Madrid, Spain; Universidad Autónoma de Madrid, Departamento de Medicina, Madrid, Spain.
7
Laboratory for Clinical Immunology and Molecular Genetics, University Clinic of Respiratory and Allergic Diseases Golnik, Golnik, Slovenia.
8
Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, United Kingdom.
9
Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil; Department of Medicine, University of California San Diego, San Diego, Calif.
10
Inserm U1016, CNRS UMR8104, Institut Cochin, Université Paris-Descartes, Paris, France.
11
CeMIA SA, Larissa, Greece.

Abstract

Hereditary angioedema (HAE) is becoming much more genetically complex than was initially considered. Thus, the role of HAE genetics is expanding beyond research laboratories, and the genotyping of subjects suffering from HAE has become diagnostically indispensable in clinical practice. The synthesis and interpretation of the clinical and biochemical analyses to facilitate appropriate genetic test selection has thus also become significantly more complex. With this in mind, an international multidisciplinary group of 14 experts in HAE genetics and disease management was convened in October 2018. The objective was to develop clear, actionable, evidence- and consensus-based statements aiming to facilitate the communication between physicians treating patients with HAE and clinical geneticists, and thus promote the effective use of genetics in the management of the disease. Eleven consensus statements were generated, encompassing considerations regarding the clinical indications for genotyping patients with angioedema, the methods of detection of HAE-causative variants, the variant pathogenicity curation, the genotyping of patients with HAE in the clinic, and genetic counseling. These statements are intended both to guide clinicians and to serve as a framework for future educational and further genetic testing developments as the field continues to evolve rapidly.

KEYWORDS:

ClinVar; Consensus; Genetics; Hereditary angioedema; Variant pathogenicity curation

PMID:
31669336
DOI:
10.1016/j.jaip.2019.10.004

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