Abstract
Until recently, it was assumed that hereditary angioedema was a disease resulting 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 this condition have been reported. Most of the patients were women. In many of the affected women, oral contraceptives, hormone replacement therapy containing estrogens, and pregnancies triggered the clinical symptoms. In some families, mutations in the coagulation factor XII (Hageman factor) gene were detected in the affected persons.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References and Recommended Reading
Bork K, Barnstedt SE, Koch P, Traupe H: Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 2000, 356:213–217.
Binkley KE, Davis A 3rd: Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. J Allergy Clin Immunol 2000, 106:546–550.
Martin L, Degenne D, Toutain A, et al.: Hereditary angioedema type III: an additional French pedigree with autosomal dominant transmission. J Allergy Clin Immunol 2001, 107:747–748.
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.
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.
Cichon S, Martin L, Hennies HC, et al.: Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet 2006, 79:1098–1104.
Bouillet L, Ponard D, Rousset H, et al.: 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.
Martin L, Raison-Peyron N, Nothen MM, et al.: 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.
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.
Serrano C, Guilarte M, Tella R, et al.: 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.
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.
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.
Binkley KE, Davis AE 3rd: Estrogen-dependent inherited angioedema. Transfus Apher Sci 2003, 29:215–219.
Sabroe RA, Black AK: Angiotensin-converting enzyme (ACE) inhibitors and angio-oedema. Br J Dermatol 1997, 136:153–158.
Vleeming W, van Amsterdam JG, Stricker BH, de Wildt DJ: ACE inhibitor-induced angioedema. Incidence, prevention and management. Drug Saf 1998, 18:171–188.
Agostoni A, Cicardi M: Contraindications to the use of ace inhibitors in patients with C1 esterase inhibitor deficiency. Am J Med 1991, 90:278.
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.
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.
Cicardi M, Bergamaschini L, Zingale LC, et al.: Idiopathic nonhistaminergic angioedema. Am J Med 1999, 106:650–654.
Kaplan AP, Joseph K, Shibayama Y, et al.: The intrinsic coagulation/kinin-forming cascade: assembly in plasma and cell surfaces in inflammation. Adv Immunol 1997, 66:225–272.
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.
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.
Cool DE, Edgell CJ, Louie GV, et al.: 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.
Citarella F, Aiuti A, La Porta C, et al.: 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.
Citarella F, Ravon DM, Pascucci B, et al.: 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.
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 (in press).
Herrmann G, Schneider L, Krieg T, et al.: Efficacy of danazol treatment in a patient with the new variant of hereditary angio-oedema (HAE III). Br J Dermatol 2004, 150:157–158.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Bork, K. Hereditary angioedema with normal C1 inhibition. Curr Allergy Asthma Rep 9, 280–285 (2009). https://doi.org/10.1007/s11882-009-0039-9
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11882-009-0039-9