Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Allergy, Asthma & Clinical Immunology
Published in: Allergy, Asthma & Clinical Immunology 1/2010

Open Access 01-12-2010 | Review

Diagnosis and treatment of hereditary angioedema with normal C1 inhibitor

Author: Konrad Bork

Published in: Allergy, Asthma & Clinical Immunology | Issue 1/2010

Login to get access

Abstract

Until recently it was assumed that hereditary angioedema is a disease that results exclusively from a genetic deficiency of the C1 inhibitor. In 2000, families with hereditary angioedema, normal C1 inhibitor activity and protein in plasma were described. Since then numerous patients and families with that condition have been reported. Most of the patients by far were women. In many of the affected women, oral contraceptives, hormone replacement therapy containing estrogens, and pregnancies triggered the clinical symptoms. Recently, in some families mutations in the coagulation factor XII (Hageman factor) gene were detected in the affected persons.
Literature
1.
Bork K, Barnstedt SE, Koch P, Traupe H: Hereditary angioedema with normal C1-inhibitor activity in women. Lancet. 2000, 356 (9225): 213-217. 10.1016/S0140-6736(00)02483-1.CrossRefPubMed
2.
Binkley KE, Davis A: Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. J Allergy Clin Immunol. 2000, 106: 546-550. 10.1067/mai.2000.108106.CrossRefPubMed
3.
Martin L, Degenne D, Toutain A, Ponard D, Watier H: Hereditary angioedema type III: an additional French pedigree with autosomal dominant transmission. J Allergy Clin Immunol. 2001, 107: 747-748. 10.1067/mai.2001.114242.CrossRefPubMed
4.
Bork K, Fischer B, Dewald G: Recurrent episodes of skin angioedema and severe attacks of abdominal pain induced by oral contraceptives or hormone replacement therapy. Am J Med. 2003, 114: 294-298. 10.1016/S0002-9343(02)01526-7.CrossRefPubMed
5.
Bork K, Gul D, Dewald G: Hereditary angio-oedema with normal C1 inhibitor in a family with affected women and men. Br J Dermatol. 2006, 154: 542-545. 10.1111/j.1365-2133.2005.07048.x.CrossRefPubMed
6.
Cichon S, Martin L, Hennies HC, Müller F, Van Driessche K, Karpushova A, Stevens W, Colombo R, Renné T, Drouet C, Bork K, Nöthen MM: Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet. 2006, 79: 1098-1104. 10.1086/509899.PubMedCentralCrossRefPubMed
7.
Bouillet L, Ponard D, Rousset H, Cichon S, Drouet C: A case of hereditary angio-oedema type III presenting with C1-inhibitor cleavage and a missense mutation in the F12 gene. Br J Dermatol. 2007, 156: 1063-1065. 10.1111/j.1365-2133.2007.07778.x.CrossRefPubMed
8.
Martin L, Raison-Peyron N, Nothen MM, Cichon S, Drouet C: Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene. J Allergy Clin Immunol. 2007, 120: 975-977. 10.1016/j.jaci.2007.07.002.CrossRefPubMed
9.
Fiz Matias J, Ferrer Ceron SM, Garcia Perez C, Marcos Vidal JM: Analgesia obstetrica en un caso de edema angioneurotico hereditario tipo III. Rev Esp Anestesiol Reanim. 2007, 54: 253-254.PubMed
10.
Serrano C, Guilarte M, Tella R, Dalmau G, Bartra J, Gaig P, Cerda M, Cardona V, Valero A: Oestrogen-dependent hereditary angio-oedema with normal C1 inhibitor: description of six new cases and review of pathogenic mechanisms and treatment. Allergy. 2008, 63: 735-741. 10.1111/j.1398-9995.2007.01579.x.CrossRefPubMed
11.
Dewald G, Bork K: Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun. 2006, 343: 1286-1289. 10.1016/j.bbrc.2006.03.092.CrossRefPubMed
12.
Bork K, Gul D, Hardt J, Dewald G: Hereditary angioedema with normal C1 inhibitor: clinical symptoms and course. Am J Med. 2007, 120: 987-992. 10.1016/j.amjmed.2007.08.021.CrossRefPubMed
13.
Binkley KE, Davis AE: Estrogen-dependent inherited angioedema. Transfus Apher Sci. 2003, 29: 215-219. 10.1016/j.transci.2003.08.002.CrossRefPubMed
14.
Bork K, Wulff K, Hardt J, Witzke G, Staubach P: Hereditary angioedema caused by missense mutations in the factor XII gene: clinical features, trigger factors, and therapy. J Allergy Clin Immunol. 2009, 124: 129-134. 10.1016/j.jaci.2009.03.038.CrossRefPubMed
15.
Sabroe RA, Black AK: Angiotensin-converting enzyme (ACE) inhibitors and angio-oedema. Br J Dermatol. 1997, 136: 153-158. 10.1111/j.1365-2133.1997.tb14887.x.CrossRefPubMed
16.
Vleeming W, van Amsterdam JG, Stricker BH, de Wildt DJ: ACE inhibitor-induced angioedema. Incidence, prevention and management. Drug Saf. 1998, 18: 171-188. 10.2165/00002018-199818030-00003.CrossRefPubMed
17.
Agostoni A, Cicardi M: Contraindications to the use of ace inhibitors in patients with C1 esterase inhibitor deficiency. Am J Med. 1991, 90: 278-CrossRefPubMed
18.
Bork K, Dewald G: Hereditary angioedema type III, angioedema associated with angiotensin II receptor antagonists, and female sex. Am J Med. 2004, 116: 644-645. 10.1016/j.amjmed.2003.11.031.CrossRefPubMed
19.
Gupta S, Yu F, Klaustermeyer WB: New-variant hereditary angioedema in three brothers with normal C1 esterase inhibitor level and function. Allergy. 2004, 59: 557-558. 10.1111/j.1398-9995.2004.00428.x.CrossRefPubMed
20.
Cicardi M, Bergamaschini L, Zingale LC, Gioffre D, Agostoni A: Idiopathic nonhistaminergic angioedema. Am J Med. 1999, 106: 650-654. 10.1016/S0002-9343(99)00123-0.CrossRefPubMed
21.
Bell CG, Kwan E, Nolan RC, Baumgart KW: First molecular confirmation of an Australian case of type III hereditary angioedema. Pathology. 2008, 40: 82-83. 10.1080/00313020701716433.CrossRefPubMed
22.
Prieto A, Tornero P, Rubio M, Fernandez-Cruz E, Rodriguez-Sainz C: Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III. Allergy. 2009, 64: 284-286. 10.1111/j.1398-9995.2008.01764.x.CrossRefPubMed
23.
Duan QL, Binkley K, Rouleau GA: Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema. J Allergy Clin Immunol. 2009, 123: 906-910. 10.1016/j.jaci.2008.12.010.CrossRefPubMed
24.
Nagy N, Greaves MW, Tanaka A, McGrath JA, Grattan CE: Recurrent European missense mutation in the F12 gene in a British family with type III hereditary angioedema. J Dermatol Sci. 2009, 56: 62-64. 10.1016/j.jdermsci.2009.06.013.CrossRefPubMed
25.
Hentges F, Hilger C, Kohnen M, Gilson G: Angioedema and estrogen-dependent angioedema with activation of the contact system. J Allergy Clin Immunol. 2009, 123: 262-264. 10.1016/j.jaci.2008.10.056.CrossRefPubMed
26.
Cool DE, MacGillivray RT: Characterization of the human blood coagulation factor XII gene. Intron/exon gene organization and analysis of the 5'-flanking region. J Biol Chem. 1987, 262: 13662-13673.PubMed
27.
Cool DE, Edgell CJ, Louie GV, Zoller MJ, Brayer GD, MacGillivray RT: Characterization of human blood coagulation factor XII cDNA. Prediction of the primary structure of factor XII and the tertiary structure of beta-factor XIIa. J Biol Chem. 1985, 260: 13666-13676.PubMed
28.
Citarella F, Aiuti A, La Porta C, Russo G, Pietropaolo C, Rinaldi M, Fantoni A: Control of human coagulation by recombinant serine proteases. Blood clotting is activated by recombinant factor XII deleted of five regulatory domains. Eur J Biochem. 1992, 208: 23-30. 10.1111/j.1432-1033.1992.tb17155.x.CrossRefPubMed
29.
Citarella F, Ravon DM, Pascucci B, Felici A, Fantoni A, Hack CE: Structure/function analysis of human factor XII using recombinant deletion mutants. Evidence for an additional region involved in the binding to negatively charged surfaces. Eur J Biochem. 1996, 238: 240-249. 10.1111/j.1432-1033.1996.0240q.x.CrossRefPubMed
30.
Bork K, Kleist R, Hardt J, Witzke G: Kallikrein-kinin system and fibrinolysis in hereditary angioedema due to the factor XII gene mutation Thr309Lys. Blood Coagul Fibrinolysis. 2009, 20: 325-332. 10.1097/MBC.0b013e32832811f8.CrossRefPubMed
31.
Bork K, Siedlecki K, Bosch S, Schopf RE, Kreuz W: Asphyxiation by laryngeal edema in patients with hereditary angioedema. Mayo Clin Proc. 2000, 75: 349-354. 10.4065/75.4.349.CrossRefPubMed
32.
Bork K, Hardt J, Schicketanz KH, Ressel N: Clinical studies of sudden upper airway obstruction in patients with hereditary angioedema due to c1 esterase inhibitor deficiency. Arch Intern Med. 2003, 163: 1229-1235. 10.1001/archinte.163.10.1229.CrossRefPubMed
33.
Bork K, Meng G, Staubach P, Hardt J: Hereditary angioedema: new findings concerning symptoms, affected organs, and course. Am J Med. 2006, 119: 267-274. 10.1016/j.amjmed.2005.09.064.CrossRefPubMed
34.
Frigas E, Park M: Idiopathic recurrent angioedema. Immunol Allergy Clin North Am. 2006, 26: 739-751. 10.1016/j.iac.2006.09.004.CrossRefPubMed
35.
Zingale LC, Beltrami L, Zanichelli A, Maggioni L, Pappalardo E, Cicardi B, Cicardi M: Angioedema without urticaria: a large clinical survey. CMAJ. 2006, 175: 1065-1070.PubMedCentralCrossRefPubMed
36.
Greenberger PA: Anaphylactic and anaphylactoid causes of angioedema. Immunol Allergy Clin North Am. 2006, 26: 753-767. 10.1016/j.iac.2006.09.002.CrossRefPubMed
37.
Bouillet L, Boccon-Gibod I, Ponard D, Drouet C, Cesbron JY, Dumestre-Perard C, Monnier N, Lunardi J, Massot C, Gompel A: Bradykinin receptor 2 antagonist (icatibant) for hereditary angioedema type III attacks. Ann Allergy Asthma Immunol. 2009, 103: 448-10.1016/S1081-1206(10)60369-9.CrossRefPubMed
38.
Herrmann G, Schneider L, Krieg T, Hunzelmann N, Scharfetter-Kochanek K: Efficacy of danazol treatment in a patient with the new variant of hereditary angio-oedema (HAE III). Br J Dermatol. 2004, 150: 157-158. 10.1111/j.1365-2133.2004.05669.x.CrossRefPubMed
39.
Bork K: Hereditary angioedema with normal C1 inhibitor activity including hereditary angioedema with coagulation factor XII gene mutations. Immunol Allergy Clin North Am. 2006, 26: 709-724. 10.1016/j.iac.2006.09.003.CrossRefPubMed
Metadata
Title
Diagnosis and treatment of hereditary angioedema with normal C1 inhibitor
Author
Konrad Bork
Publication date
01-12-2010
Publisher
BioMed Central
Published in
Allergy, Asthma & Clinical Immunology / Issue 1/2010
Electronic ISSN: 1710-1492
DOI
https://doi.org/10.1186/1710-1492-6-15

Other articles of this Issue 1/2010

Allergy, Asthma & Clinical Immunology 1/2010 Go to the issue

Review

Factor XII mutations, estrogen-dependent inherited angioedema, and related conditions

Review

The anti-vaccination movement and resistance to allergen-immunotherapy: a guide for clinical allergists

Research

Management of hereditary angioedema: 2010 Canadian approach

Review

HAE therapies: past present and future

Case report

Kimura's disease with eosinophilic panniculitis - treated with cyclosporine: a case report

Research

Effect of allergen-specific immunotherapy with purified Alt a1 on AMP responsiveness, exhaled nitric oxide and exhaled breath condensate pH: a randomized double blind study