Hereditary angioedema with normal C1 inhibition

Current Allergy and Asthma Reports

Volumn 9, Issue 4, 2009, Pages 280-285

  Bork, Konrad ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOTENSIN 2 RECEPTOR ANTAGONIST; ANTIHISTAMINIC AGENT; ARGININE; BLOOD CLOTTING FACTOR 12; COMPLEMENT COMPONENT C1S INHIBITOR; CORTICOSTERONE; DANAZOL; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; ESTROGEN; ORAL CONTRACEPTIVE AGENT; THREONINE;

ABDOMINAL CRAMP; ABDOMINAL PAIN; AMINO ACID SUBSTITUTION; ANGIONEUROTIC EDEMA; BLOOD CLOTTING DISORDER; CLINICAL FEATURE; DISEASE EXACERBATION; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; FACE EDEMA; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HYPERTENSION; INHERITANCE; LARYNX EDEMA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PROTEIN BLOOD LEVEL; RELAPSE; REVIEW; SEX DIFFERENCE; TONGUE SWELLING;

ADRENAL CORTEX HORMONES; ANGIOEDEMA, HEREDITARY; ANGIOTENSIN-CONVERTING ENZYME INHIBITORS; COMPLEMENT C1 INHIBITOR PROTEIN; DANAZOL; ESTROGEN ANTAGONISTS; ESTROGENS; FACTOR XII; FEMALE; HISTAMINE ANTAGONISTS; HUMANS; MALE; MUTATION; PEDIGREE; SEX FACTORS;

EID: 68349117147     PISSN: 15297322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11882-009-0039-9     Document Type: Review

References (27)

1. Bork K, Barnstedt SE, Koch P, Traupe H: Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 2000, 356: 213-217.
2. 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.
3. 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.
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.
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.
6. 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.
7. 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.
8. 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.
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.
10. 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.
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.
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.
13. Binkley KE, Davis AE 3rd: Estrogen-dependent inherited angioedema. Transfus Apher Sci 2003, 29: 215-219.
14. Sabroe RA, Black AK: Angiotensin-converting enzyme (ACE) inhibitors and angio-oedema. Br J Dermatol 1997, 136: 153-158.
15. Vleeming W, van Amsterdam JG, Stricker BH, de Wildt DJ: ACE inhibitor-induced angioedema. Incidence, prevention and management. Drug Saf 1998, 18: 171-188.
16. Agostoni A, Cicardi M: Contraindications to the use of ace inhibitors in patients with C1 esterase inhibitor deficiency. Am J Med 1991, 90: 278.
17. 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.
18. 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.
19. Cicardi M, Bergamaschini L, Zingale LC, et al.: Idiopathic nonhistaminergic angioedema. Am J Med 1999, 106: 650-654.
20. 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.
21. 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.
22. 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.
23. 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.
24. 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.
25. 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.
26. 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).
27. 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.