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Hereditary Angioedema (HAE) References

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Agostoni, A., Aygoren-Pursun, E., Binkley, K.E., Blanch, A., Bork, K., Bouillet, L., … Zingale, L. (2004). Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. Journal of Allergy and Clinical Immunology,114 (3 Suppl), S51-131.

Agostoni, A. & Cicardi, M., (1992). Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine, 71(4), 206-215.

Agostoni, A., Cicardi, M., Cugno, M., Zingale, L. C., Gioffre, D., & Nussberger, J. (1999). Angioedema due to angiotensin-converting enzyme inhibitors. Immunopharmacology, 44 (1-2), 21–25.

Aygören-Pürsün, E., Bygum, A., Grivcheva-Panovska, V., Magerl, M., Graff, J., Steiner, U. C., … Cicardi, M. (2018). Oral Plasma Kallikrein Inhibitor for Prophylaxis in Hereditary Angioedema. New England Journal of Medicine, 379(4), 352-362.

Baumgart, K. W., Britton, W. J., Kemp, A., French, M., & Robertson D. (1997). The spectrum of primary immunodeficiency disorders in Australia. Journal of Allergy and Clinical Immunology, 100(3), 415-423.

Bell, C. G., Kwan, E., Nolan, R. C., &Baumgart, K. W. (2008). First molecular confirmation of an Australian case of type III hereditary angioedema. Pathology, 40(1), 82-83.

Bernstein, J. A., Levy, R., Wasserman, A. Bewtra, A., Hurewitz, D., Obtulowicz, K., … Craig, T. J., (2008). Treatment of Acute Abdominal and Facial Attacks of Hereditary Angioedema (HAE) with Human C1-Esterase Inhibitor (C1-INH): Results of a Global, Multicenter, Randomized, Placebo-controlled, Phase II /III Study (I.M.P.A.C.T.1). Journal of Allergy and Clinical Immunology, 121(3), 795.

Bonner, N., Abetz-Webb, L., Renault, L., Caballero, T., Longhurst, H., Maurer, M., Christiansen, S., & Zuraw, B. (2015). Icatibant Outcome Survey (IOS) International Executive Committee and the Hereditary Angioedema Association (HAEA) Medical Advisory Board. Health Qual Life Outcomes, 13, 92.

Bork, K., Barnstedt, S., Koch, P., & Traupe, H. (2000). Hereditary angioedema with normal C1-inhibitor activity in women. Lancet, 356 (9225), 213-217.

Bork, K., Siedlecki, K., Bosch, S., Schopf, R.E., & Kreuz, W. (2000). Asphyxiation by laryngeal edema in patients with hereditary angioedema. Mayo Clinical Procedures, 75(4), 349-354.

Bork, K., & Barnstedt, S. (2001). Treatment of 193 episodes of laryngeal oedema with C1-INH concentrate in patients with hereditary angioedema. Archives of Internal Medicine, 161(5), 714-718.

Bork, K., Hardt, J., Schicketanz, K. H., & Ressel, N. (2003). Clinical Studies of Sudden Upper Airway Obstruction in Patients with Hereditary Angioedema Due to C1 Esterase Inhibitor Deficiency. Archives of Internal Medicine, 163(10), 1229–1235.

Bork, K., Staubach, P., Eckardt, A. J., & Hardt, J. (2006). Symptoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency. American Journal of Gastroenterology, 101(3), 619-627.

Bork, K., Meng, G., Staubach, P., & Hardt, J. (2006). Hereditary Angioedema: new findings concerning symptoms, affected organs, and course. American Journal of Medicine, 119(3), 267-274.

Bork, K., Frank, J., Grundt, B., Schlattmann, P., Nussberger, J., & Kreuz, W. (2007). Treatment of acute edema attacks in hereditary angioedema with a bradykinin receptor-2 antagonist (Icatibant). Journal of Allergy and Clinical Immunology, 119(6),1497-1503.

Bork, K., Bygum, A., & Hardt, J. (2008). Benefits and risks of danazol in hereditary angioedema: a long-term survey of 118 patients. Annals Allergy Asthma Immunology, 100(2), 153-161.

Bork, K., Wulff, K., Witzke, G., & Hardt, J. (2017). Treatment for hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII).  Allergy, 72, 320-324.

Bouillet, L., Longhurst, H., Boccon-Gibod, I., Bork, K., Bucher, C. Bygum, A. … Cicardi, M. (2008). Disease expression in women with hereditary angioedema. American Journal of Obstetrics and Gynecology. 199(5), 484.e1-e4.

Bowen, T., Cicardi, M., Bork, K., Zuraw, B., Frank, M., Ritchie, B., … Zhi, Y. X. (2008). Hereditary angioedema: a current state-of-the-art review, VII: Canadian Hungarian 2007 International Consensus Algorithm for the Diagnosis, Therapy and Management of Hereditary Angioedema. Annals of Allergy, Asthma & Immunology 100, S30-S40.

Boyle, R.J., Nikpour, M., & Tang, M. L. (2005). Hereditary angio-oedema in children: a management guideline. Pediatric Allergy and Immunology, 16(4), 288-294.

Brickman, C. M., Tsokos, G. C., Balow, J. E., Lawley, T. J., Santaella, M., Hammer, C.H., & Frank, M.M. (1986). Immunoregulatory diseases associated with hereditary angioedema: 1. Clinical manifestations of autoimmune disease. Journal of Allergy and Clinical Immunology, 77(5), 749–757.

Busse, P. J., Christiansen, S. C., Birmingham, J. M., Overbey, J. R., Banerji, A., Otani, I. M., … Zuraw, B. L. (2019). Development of a health-related quality of life instrument for patients with hereditary angioedema living in the United States. Journal of Allergy and Clinical Immunology in Practice. 7, 1679-1683.

Bygum, A., Andersen, K. E., & Mikkelsen, C. S. (2009). Self-administration of intravenous C1-inhibitor therapy for hereditary angioedema and associated quality of life benefits. European Journal of Dermatology, 19(2),147-151.

Campbell, D. J., Krum, H., & Esler, M, D. (2005). Losartan increases bradykinin levels in hypertensive humans. Circulation, 111(3),315-320.

Chinniah, N., & Katelaris, C.H. (2009). Hereditary angioedema and pregnancy. Australian and New Zealand Journal of Obstetrics and Gynaecology, 49(1), 2-5.

Cicardi, M., Bergamaschini, L., Cugno, M., Hack, E., Agostoni, G. & Agostoni, A. (1991).  Long-term treatment of hereditary angioedema with attenuated androgens: a survey of a 13-year experience. Journal of Allergy and Clinical Immunology, 87(4), 768-773.

Cicardi, M., Castelli, R., Zingale, L.C., & Agostini, A. (1997). Side effects of long-term prophylaxis with attenuated androgens in hereditary angioedema: comparison of treated and untreated patients. Journal of Allergy and Clinical Immunology, 99(2), 194-196.

Cicardi, M., Zingale, L., Pappalardo, E., Folcioni, A., & Agostoni, A. (2003). Autoantibodies and lymphoproliferative diseases in acquired C1-inhibitor deficiencies. Medicine (Baltimore) 82(4), 274–281.

Craig, T., Zuraw, B., Longhurst, H., Cicardi, M., Bork, K., Grattan, C., … Jacobs, I. (2019). Long-Term Outcomes with Subcutaneous C1-Inhibitor Replacement Therapy for Prevention of Hereditary Angioedema Attacks. Journal of Allergy and Clinical Immunology in Practice, 7(6), 1793–1802.

Davis, A. E. (2008). Hereditary angioedema: a current state-of-the-art review, III: mechanisms of hereditary angioedema. Annals of Allergy Asthma and Immunology, 100 (1 Suppl 2), S7-12.

Deald, G., & Bork, K. (2006). Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochemical and Biophysical Research Communications, 343(4), 1286-1289.

Donaldson, V. H., & Evans, R. R. (1963). A biochemical abnormality in hereditary angioneurotic edema: absence of serum inhibitor of C’ 1-esterase. American Journal of Medicine, 35, 37-44.

Donaldson, V. H., Rosen, F. S. (1964). Action of complement in hereditary angioedema: the role of C’1-esterase. Journal of Clinical Investigation, 4, 2204–2213.

Eidelman, F. J. Eidelman (2010). Hereditary angioedema: New therapeutic options for a potentially deadly disorder. BMC Hematology 10: 3.

Farkas, H., Harmat, G., Füst, G., Varga, L., & Visy, B. (2002). Clinical management of hereditary angio-oedema in children. Pediatric Allergy and Immunology. 13(3), 153-161.

Farkas, H., Varga, L., Szeplaki, G., Visy, B., Harmat, G., & Bowen, T. (2007). Management of hereditary angioedema in pediatric patients. Pediatrics, 120(3), e713-722.

Farkas, H., Czaller, I., Csuka, D., Vas, A., Valentin, S., Varga, … & Karádi I. (2010). The effect of long-term danazol prophylaxis on liver function in hereditary angioedema-a longitudinal study. Eur J Clin Pharmacol, 66(4), 419-42.

Frank, M. M., Gelfand, J.A., & Atkinson, J.P. (1976). Hereditary angioedema: the clinical syndrome and its management. Annals of Internal Medicine, 84, 580-93.

Frank, M. M. (1979). Effect of sex hormones on the complement-related clinical disorder of hereditary angioedema. Arthritis and Rheumatism, 22(11),1295–1299.

Frank, M. M. (2000). Urticaria and angioedema in Goldman, L. & Bennett, J. C., (ed) Cecil Textbook of Medicine. 21 ed. W. B. Saunders Co 1440-1445.

Frank, M. M. (2006). Hereditary angioedema: the clinical syndrome and its management in the United States. Immunology and Allergy Clinics of North America, 26(4), 653-668.

Frank, M. M. (2008). Hereditary angioedema: a current state-of-the-art review, VI: novel therapies for hereditary angioedema. Annals of Allergy Asthma and Immunology, 100(1 Suppl 2), S23-29.

Gompels, M. M., Lock, R. J., Abinun, M., Bethune, C. A., Davies, G., Grattan, C., … Watters, D. (2005). C1 inhibitor deficiency: consensus document. Clinical and Experimental Immunology, 139(3), 379-394.

Graves, R. (1843). Clinical lectures on the practice of medicine, in Major, R.H., ed. (1955). Classic Descriptions of Disease. 3rd Ed. Charles C. Thomas Pub Ltd, 623- 624.

Jurado-Palomo, J., Muñoz-Caro, J. M., López-Serrano, M. C., Prior, N., Cabañas, R., Pedrosa, M., Burgueño, M., & Caballero, T. (2013). Management of Dental-Oral Procedures in Patients with Hereditary Angioedema due to C1 Inhibitor Deficiency.  The Journal of Investigational Allergology and Clinical Immunology, 23(1), 1-6.

Landerman, N. S., Webster, M. E., Becker, E. L., & Ratcliffe, H. E. (1962). Hereditary angioneurotic edema. Journal of Allergy, 33, 330–341.

Longhurst, H. J. (2005). Emergency treatment of acute attacks in hereditary angioedema due to C1 inhibitor deficiency: what is the evidence? International Journal of Clinical Practice, 59(5), 594-599.

Longhurst, H., Cicardi, M., Craig, T., Bork, K., Grattan, C., Baker, J., … Zuraw, B. L. for COMPACT Investigators. (2017). Prevention of Hereditary Angioedema Attacks with a Subcutaneous C1 Inhibitor. New England Journal of Medicine, 376, 1131–40.

Magerl, M., Germenis, A. E., Maas, C., & Maurer, M. (2017). Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment.  Immunology and Allergy Clinics of North America, 37(3), 571-584.

Maurer, M., Longhurst, H. J., Fabien, V., Li, H. H., & Lumry, W. R., for the IOS Study Group. (2014). Treatment of hereditary angioedema with icatibant: efficacy in clinical trials versus effectiveness in the real-world setting. Allergy Asthma Proc, 35(5), 377-81.

Maurer, M., Magerl, M., Ansotegui, I., Aygoren-Pursun, E., Betschel, S., Bork, K. … Craig, T. (2018). The international WAO/EAACI guideline for the management of hereditary angioedema – the 2017 revision and update. World Allergy Organization Journal, 11, Article number 5.

Nzeako, U. C., Frigas, E., & Tremaine, W. J. (2001). Hereditary angioedema: a broad review for clinicians. Archives of Internal Medicine, 161, 2417-2429.

O'Bier, A., Muniz, A.E., & Foster, R.L. (2005). Hereditary angioedema presenting as epiglottitis. Pediatric Emergency Care, 21(1), 27-30.

Osler, W. (1888). Hereditary angio-neurotic oedema. American Journal of Medical Science, 95, 362–367.

Postnikoff, I. M. & Pritzker, K. P. (1979). Hereditary angioneurotic edema: an unusual case of maternal mortality. Journal of Forensic Sciences, 24, 473-478.

Prematta, M. J., Prematta, T., & Craig, T. J. (2008). Treatment of HAE with plasma-derived C1inhibitor. Therapeutics & Clinical Risk Management, 4(5), 1-8.

Prior, N., Remor, E., Gomez-Traseira, C., Lopez-Serrano, C., Cabanas, R., Contreras, J., … Cabereloo, T.  (2012). Development of a disease-specific quality of life questionnaire for adult patients with hereditary angioedema due to C1 inhibitor deficiency (HAE- QoL): Spanish multi-centre research project. Health Qual Life Outcomes, 10, 82.

Quincke, H. (1882). Concerning the acute localized oedema of the skin. Monatsh Prakt Dermatology, 1, 129–31.

Roche, O., Blanch, A., Caballero, T., Sastre, N., Callejo, D., & Lopez-Trascasa, M. (2005). Hereditary angioedema due to C1 inhibitor deficiency: patient registry and approach to the prevalence in Spain. Annals of Allergy, Asthma, & Immunology, 94, 498-503.

Rosen, F. S., Pensky, J., Donaldson, V., & Charache, P. (1965). Hereditary angioneurotic edema: two genetic variants. Science, 148, 957–958.

Szeplaki, G., Varga, L., Kleiber, M., Karadi, I., Romics, L., Fust, G., & Farkas, H. (2005). Adverse effects of danazol prophylaxis on the lipid profiles of patients with hereditary angioedema. Journal of Allergy and Clinical Immunology, 115, 864-869.

Weller, K., Groffik, A., Magerl, M., Tohme, N., Martus, P., Krause, K., …  Maurer, M. (2012). Development and construct validation of the angioedema quality of life questionnaire. Allergy, 67(10),1289–98.

Weller, K., Magerl, M., Peveling-Oberhag, A., Martus, P., Staubach, P., & Maurer, M. (2016). The Angioedema Quality of Life Questionnaire (AE-QoL) - assessment of sensitivity to change and minimal clinically important difference. Allergy, 71,1203–9.

Winnewisser, J., Rossi, M., Späth, P., & Bürgi, H. (1997). Type I hereditary angio-oedema. Variability of clinical presentation and course within two large kindreds. Journal of Internal Medicine, 241(1).

Wu, M. A. Lanadelumab for the treatment of hereditary angioedema. (2019). Expert Opinion on Biological Therapy. 19, 1233–45.

Zingale, L. C., Beltrami, L., Zanichelli, A., Maggioni, L., Pappalardo, E., Cicardi, B., & Cicardi, M. (2006). Angioedema without urticaria: a large clinical survey. Canadian Medical Association Journal, 175, 1065-1070.

Zuraw, B. L. & Herschbach, J., (2000). Detection of C1 inhibitor mutations in patients with hereditary angioedema. Journal of Allergy Clinical Immunology, 105(3), 541-546.

Zuraw, B. L. (2008). Clinical practice. Hereditary angioedema. New England Journal of Medicine, 359, 1027-1036.

Zuraw, B. L. (2018). Hereditary angioedema with normal C1 inhibitor: Four types and counting. J Allergy Clin Immunol. 141(3), 884-5.

Zuraw B. L.,  Lumry, W., Banerji, A., Aygoren-Pursun, E., Bernstein, J., Johnston, D. … Sheridan, W. (2019). P150 oral prophylaxis with bcx7353 reduces HAE attack rates and is well-tolerated: apex-2 study results.  Annals Allergy Asthma & Immunol, 123(5), S27.

NOTE: There is a separate ASCIA reference list for Immunodeficiency publications on the ASCIA website

Content updated November 2022