Exploratory analysis of genetic variation, clinical activity score, and lanadelumab response in two families with hereditary angioedema due to C1-inhibitor esterase deficiency
By: Noémi-Anna Bara, Valentin Nădășan and Diana Deleanu
References
- Fisch SA, Rundle AG, Neugut AI, Freedberg DE. Worldwide Prevalence of Hereditary Angioedema: A Systematic Review and Meta-Analysis. Int Arch Allergy Immunol. 2025;186(8):802-810. DOI:10.1159/000543321
- Busse PJ, Christiansen SC. Hereditary Angioedema. N Engl J Med. 2020 Mar 19;382(12):1136-1148. DOI:10.1056/NEJMra1808012
- Bos IGA, Hack CE, Abrahams JP. Structural and functional aspects of C1- inhibitor. Immunobiology. 2022;205(4-5):518-533. DOI:10.1078/0171-2985-00151
- Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, et al. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and nextgeneration sequencing studies. Hum Genet. 2017;136:665-77. DOI:10.1007/s00439-017-1779-6
- Kalmar L, Hegedus T, Farkas H, Nagy M, Tordai A. HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene. Hum Mutat. 2005;25:1-5. DOI:10.1002/humu.20112
- Loli-Ausejo D, Lopez-Lera A, Drouet C, Lluncor M, Phillips-Angles E, Pedrosa M, et al. In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1 INH Deficiency. Clinical Reviews in Allergy & Immunology. 2021;61:1-14. DOI:10.1007/s12016-021-08834-9
- Germenis AE, Speletas M. Genetics of hereditary angioedema revisited. Clinic Rev Allerg Immunol. 2016;51:170. DOI:10.1007/s12016-016-8543-x
- Cicardi M, Aberer W, Banerji A, Bas M, Bernstein JA, Bork K, et al. Classification, diagnosis, and approach to treatment for angioedema: consensus report from the Hereditary Angioedema International Working Group. Allergy. 201;69(5):602-616. DOI:10.1111/all.12380
- Maurer M, Magerl M, Betschel S, Aberer W, Ansotegiu IJ, Aygören Pürsün E, et al. The international WAO/EAACI guideline for the management of hereditary angioedema-the 2021 revision and update. Allergy. 2022;77:1961-1990. DOI:10.1111/all.15214
- Germenis AE, Rijavec M, Veronez CL. Leveraging Genetics for Hereditary Angioedema: A Road Map to Precision Medicine. Clin Rev Allergy Immunol. 2021;60(3):416-428. DOI:10.1007/s12016-021-08836-7
- Germenis AE, Margaglione M, Pesquero JB, Farkas H, Cichon S, Csuka D, et al: Hereditary Angioedema International Working Group. International Consensus on the Use of Genetics in the Management of Hereditary Angioedema. J Allergy Clin Immunol Pract. 2020;8(3):901-911. DOI:10.1016/j.jaip.2019.10.004
- Bygum A, Fagerberg CR, Ponard D, Monnier N, Lunardi J, Drouet C. Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency. Allergy. 2011;66:76-84. DOI:10.1111/j.1398-9995.2010.02456.x
- Bara NA, Nadasşan V, Deleanu D. One-year real-life outcomes of lanadelumab therapy in Romanian patients with hereditary angioedema due to C1-inhibitor deficiency. Front. Allergy. 2025;6:1636425. DOI:10.3389/falgy.2025.1636425
- Weller K, Donoso T, Magerl M, Aygören-Pürsün E, Staubach P, Martinez-Saguer I, et al. Validation of the angioedema control test (AECT)-A patient reported outcome instrument for assessing angioedema control. J Allergy Clin Immunol Pract. 2020;8(6):2050-e4. DOI:10.1016/j.jaip.2020.02.038
- Weller K, Groffik A, Magerl M, Tohme N, Martus P, Krause K, et al. Development and construct validation of the angioedema quality of life questionnaire. Allergy. 2012;67(10):1289-98. DOI:10.1111/all.12007
- Speletas M, Szilagyi A, Psarros F, Moldovan D, Magerl M, Kompoti M, et al. Hereditary angioedema: molecular and clinical differences among European populations. J Allergy Clin Immunol. 2015;135(2):P570-573 DOI:10.1016/j.jaci.2014.08.007
- Kelemen Z, Moldovan D, Mihaly E, Visy B, Szeplaki G, Csuka D, et al. Baseline level of functional C1-inhibitor correlates with disease severity scores in hereditary angioedema. Clin Immunol. 2010;134:354-358 DOI:10.1016/j.clim.2009.11.002
- Bors A, Csuka D, Varga L, Farkas H, Tordai A, Füst G, et al. Less severe clinical manifestations in patients with hereditary angioedema with missense C1INH gene mutations. J Allergy Clin Immunol. 2013;131(6):1708-1711. DOI:10.1016/j.jaci.2012.11.015
- Banerji A, Bernstein JA, Johnston DT, Lumry WR, Magerl M, Maurer M, et al. Long-term prevention of hereditary angioedema attacks with lanadelumab: the HELP OLE study. Allergy. 2022;77(3):979-90. DOI:10.1111/all.15011
- Banerji A, Riedl MA, Bernstein JA, Cicardi M, Longhurst HJ, Zuraw BL, et al. Effect of lanadelumab compared with placebo on prevention of hereditary angioedema attacks. JAMA. 2018;320(20):2108-21. DOI:10.1001/jama.2018.16773
Language: English
Page range: 253 - 258
Submitted on: May 6, 2026
Accepted on: Jun 23, 2026
Published on: Jul 11, 2026
Published by: Romanian Association of Laboratory Medicine
In partnership with: Paradigm Publishing Services
Related subjects:
© 2026 Noémi-Anna Bara, Valentin Nădășan, Diana Deleanu, published by Romanian Association of Laboratory Medicine
This work is licensed under the Creative Commons Attribution 4.0 License.