Hereditary Angioedema (HAE) References

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Agostoni, A. & Cicardi, M., (1992). Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine, 71(4), 206-215. https://journals.lww.com/md-journal/Citation/1992/07000/Hereditary_and_Acquired_C1_Inhibitor_Deficiency_.3.aspx

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. https://doi.org/10.1016/s0162-3109(99)00107-1

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. https://doi.org/10.1016/j.jaci.2004.06.047

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. https://www.nejm.org/doi/full/10.1056/NEJMoa1716995

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. https://doi.org/10.1016/S0091-6749(97)70257-4

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. https://journals.lww.com/pathologyrcpa/Citation/2008/40010/First_molecular_confirmation_of_an_Australian_case.15.aspx

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. https://doi.org/10.1016/j.jaci.2008.01.052

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.  https://doi.org/10.1186/s12955-015-0292-7

Bork, K., Barnstedt, S., Koch, P., & Traupe, H. (2000). Hereditary angioedema with normal C1-inhibitor activity in women. Lancet, 356 (9225), 213-217. https://doi.org/10.1016/S0140-6736(00)02483-1

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. https://doi.org/10.4065/75.4.349

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. https://doi.org/10.1001/archinte.161.5.714

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. https://jamanetwork.com/journals/jamainternalmedicine/fullarticle/215579

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. https://www.researchgate.net/deref/http%3A%2F%2Fdx.doi.org%2F10.1111%2Fj.1572-0241.2006.00492.x

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. https://doi.org/10.1016/j.amjmed.2005.09.064

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. https://doi.org/10.1016/j.jaci.2007.02.012

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. https://doi.org/10.1016/s1081-1206(10)60424-3

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. https://doi.org/10.1111/all.13076

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. https://doi.org/10.1016/j.ajog.2008.04.034

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. https://doi.org/10.1016/s1081-1206(10)60584-4

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. https://doi.org/10.1111/j.1399-3038.2005.00275.x

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. https://doi.org/10.1016/0091-6749(86)90424-0

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. https://doi.org/10.1016/j.jaip.2018.11.042

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. https://www.jle.com/10.1684/ejd.2008.0603

Campbell, D. J., Krum, H., & Esler, M, D. (2005). Losartan increases bradykinin levels in hypertensive humans. Circulation, 111(3),315-320. https://doi.org/10.1161/01.CIR.0000153269.07762.3B

Chinniah, N., & Katelaris, C.H. (2009). Hereditary angioedema and pregnancy. Australian and New Zealand Journal of Obstetrics and Gynaecology, 49(1), 2-5. https://doi.org/10.1111/j.1479-828X.2008.00945.x

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. https://doi.org/10.1016/0091-6749(91)90120-D

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. https://doi.org/10.1016/S0091-6749(97)70095-2

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. https://doi.org/10.1097/01.md.0000085055.63483.09

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.  https://doi.org/10.1016/j.jaip.2019.01.054

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. https://doi.org/10.1016/S1081-1206(10)60580-7

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. https://doi.org/10.1016/j.bbrc.2006.03.092

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. https://doi.org/10.1016/0002-9343(63)90162-1

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.https://doi.org/10.1172/JCI105094

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. https://doi.org/10.1034/j.1399-3038.2002.01014.x

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. https://doi.org/10.1542/peds.2006-3303

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. https://link.springer.com/article/10.1007/s00228-009-0771-z

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. https://doi.org/10.7326/0003-4819-84-5-580

Frank, M. M. (1979). Effect of sex hormones on the complement-related clinical disorder of hereditary angioedema. Arthritis and Rheumatism, 22(11),1295–1299. https://doi.org/10.1002/art.1780221118

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. https://doi.org/10.1016/j.iac.2006.09.005

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. https://doi.org/10.1016/S1081-1206(10)60583-2

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. https://doi.org/10.1111/j.1365-2249.2005.02726.x

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. http://www.jiaci.org/issues/vol23issue1/1.pdf

Landerman, N. S., Webster, M. E., Becker, E. L., & Ratcliffe, H. E. (1962). Hereditary angioneurotic edema. Journal of Allergy, 33, 330–341. https://doi.org/10.1016/0021-8707(62)90031-X

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. https://doi.org/10.1111/j.1742-1241.2005.00352.x

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. https://www.nejm.org/doi/pdf/10.1056/NEJMoa1613627

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. https://doi.org/10.1016/j.iac.2017.04.004

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.  https://doi.org/10.2500/aap.2014.35.3780

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. https://doi.org/10.1186/s40413-017-0180-1

Nzeako, U. C., Frigas, E., & Tremaine, W. J. (2001). Hereditary angioedema: a broad review for clinicians. Archives of Internal Medicine, 161, 2417-2429. https://jamanetwork.com/journals/jamainternalmedicine/fullarticle/649449

O'Bier, A., Muniz, A.E., & Foster, R.L. (2005). Hereditary angioedema presenting as epiglottitis. Pediatric Emergency Care, 21(1), 27-30. https://doi.org/10.1097/01.pec.0000150985.81109.0d

Osler, W. (1988). Hereditary angio-neurotic oedema. American Journal of Medical Science, 95, 362–367. https://doi.org/10.1186/1471-2326-10-3

Postnikoff, I. M. & Pritzker, K. P. (1979). Hereditary angioneurotic edema: an unusual case of maternal mortality. Journal of Forensic Sciences, 24, 473-478. https://doi.org/10.1520/JFS10855J

Prematta, M. J., Prematta, T., & Craig, T. J. (2008). Treatment of HAE with plasma-derived C1inhibitor. Therapeutics & Clinical Risk Management, 4(5), 1-8. https://doi.org/10.2147/TCRM.S3172

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.  https://doi.org/10.1186/1477-7525-10-82

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. https://doi.org/10.1016/S1081-1206(10)61121-0

Rosen, F. S., Pensky, J., Donaldson, V., & Charache, P. (1965). Hereditary angioneurotic edema: two genetic variants. Science, 148, 957–958. https://doi.org/10.1126/science.148.3672.957

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. https://doi.org/10.1016/j.jaci.2004.12.1130

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.  https://doi.org/10.1111/all.12007

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. https://doi.org/10.1111/all.12900

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). https://doi.org/10.1046/j.1365-2796.1997.76893000.x

Wu, M. A. Lanadelumab for the treatment of hereditary angioedema. (2019). Expert Opinion on Biological Therapy. 19, 1233–45.  https://doi.org/10.1080/14712598.2019.1685490

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. https://doi.org/10.1503/cmaj.060535

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. https://doi.org/10.1067/mai.2000.104780

Zuraw, B. L. (2008). Clinical practice. Hereditary angioedema. New England Journal of Medicine, 359, 1027-1036. http://doi.org/10.1056/NEJMcp0803977

Zuraw, B. L. (2018). Hereditary angioedema with normal C1 inhibitor: Four types and counting. J Allergy Clin Immunol. 141(3), 884-5. https://doi.org/10.1016/j.jaci.2018.01.015

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. https://www.annallergy.org/article/S1081-1206(19)30843-9/fulltext

NOTE: There is a separate ASCIA reference list for Immunodeficiency publications on the ASCIA website www.allergy.org.au/hp/papers#p4

Content updated October 2020