Current Allergy and Asthma Reports

, Volume 4, Issue 4, pp 251–253 | Cite as

Hereditary angioedema: The rewards of studying a rare disease

  • Michael M. Frank
Invited Commentary


Danazol Hereditary Angioedema Alternative Complement Pathway EACA High Molecular Weight Kininogen 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Frank MM, Gelfand JA, Atkinson JP: Hereditary angioedema: the clinical syndrome and its management. Ann Intern Med 1976, 84:589–593.Google Scholar
  2. 2.
    Quincke H: Über akutes umschriebenes H autöderm. Monatsschr Prakt Dermatol 1882, 1:129–131.Google Scholar
  3. 3.
    Osler W: Hereditary angioneurotic edema. Am J Med Sci 1888, 95:362–367.CrossRefGoogle Scholar
  4. 4.
    Landerman NS, Webster ME, Becker EL, Ratcliffe HE:Hereditary angioneurotic edema. J Allergy 1962, 33:330–341.PubMedCrossRefGoogle Scholar
  5. 5.
    Donaldson VH, Evans RR: A biochemical abnormality in hereditary angioneurotic edema. Am J Med 1963, 35:37–44.PubMedCrossRefGoogle Scholar
  6. 6.
    Davis AE III: C1 inhibitor gene and hereditary angioedema. In The Human Complement System in Health and Disease. Edited by Volanakis JE, Frank MM. New York: Marcel Dekker; 1998:455–480.Google Scholar
  7. 7.
    Jiang H, Wanger E, Zhang H, Frank MM: Complement 1 inhibitor is a regulator of the alternative complement pathway. J Exp Med 2001, 194:1609–1616.PubMedCrossRefGoogle Scholar
  8. 8.
    Cai S, Davis AE III: Complement regulatory protein C1 inhibitor binds to selectins and interferes with endothelial leukocyte adhesion. J Immunol 2003, 171:4786–4791.PubMedGoogle Scholar
  9. 9.
    Liu D, Cai S, Gu X, Scafidi J, et al.: C1 inhibitor prevents endotoxin shock via a direct interaction with lipopolysaccharide. J Immunol 2003, 171:2594–2601.PubMedGoogle Scholar
  10. 10.
    Spaulding WB: Methyltestosterone therapy for hereditary episodic edema (hereditary angioneurotic edema). Ann Intern Med 1960, 53:739–745.Google Scholar
  11. 11.
    Gelfand JA, Sherins RJ, Alling DW, Frank MM: Treatment of hereditary angioedema with danazol. N Engl J Med 1976, 295:1444–1448.PubMedCrossRefGoogle Scholar
  12. 12.
    Rosse WF, Logue GL, Silberman JR, Frank MM: The effect of synthetic androgens in hereditary angioneurotic edema: alteration of C1 inhibitor and C4 levels. Trans Assoc Am Phys 1976, 89:122–132.PubMedGoogle Scholar
  13. 13.
    Pappalardo E, Zingale LC, Cicardi M: Increased expression of C1 inhibitor mRNA in patients with hereditary angioedema treated with danazol. Immunol Letters 2003, 86:271–276.CrossRefGoogle Scholar
  14. 14.
    Frank MM, Sergent JS, Kane MA, Alling DW: Epsilon aminocaproic acid therapy of hereditary angioneurotic edema: a double-blind study. N Engl J Med 1972, 286:808–812.PubMedCrossRefGoogle Scholar
  15. 15.
    Cugno M, Nussberger J, Cicardi M, Agostoni A: Bradykinin and the pathophysiology of angioedema. Int Immunopharmacol 2003, 3:311–317.PubMedCrossRefGoogle Scholar
  16. 16.
    Han ED, MacFarlane RC, Mulligan AN, et al.: Increased vascular permeability in C1 inhibitor-deficient mice mediated by the bradykinin type 2 receptor. J Clin Invest 2002, 109:1057–1063.PubMedCrossRefGoogle Scholar
  17. 17.
    Caliezi C, Wuillemin WA, Zoerleder S, et al.: C1 esterase inhibitor: an anti-inflammatory agent and its potential use in the treatment of diseases other than hereditary angioedema. Pharmacol Rev 2000, 52:91–112.PubMedGoogle Scholar
  18. 18.
    Caldwell JR, Ruddy S, Schur PH, Austen KF: Acquired C1 inhibitor deficiency in lymphosarcoma. Clin Immunol Immunopathol 1972, 1:39–51.CrossRefGoogle Scholar
  19. 19.
    Alsenz J, Lambris JD, Bork K, Loos M: Acquired C1 inhibitor (C1-INH) deficiency type II: replacement therapy with C1 INH and analysis of patients’ C1-INH and anti-C1-INH autoantibodies. J Clin Invest 1989, 83:1794–1799.PubMedCrossRefGoogle Scholar
  20. 20.
    Frémeaux-Bacchi V, Guinnepain MT, Cacoub P, et al.:Prevalence of monoclonal gammopathy in patients presenting with acquired angioedema type 2. Am J Med 2002, 113:194–199.PubMedCrossRefGoogle Scholar
  21. 21.
    Bork K, Barnstedt S-E, Koch P, Traupe H: Hereditary angioedema with normal C1 inhibitor activity in women. Lancet 2000, 356:213–217.PubMedCrossRefGoogle Scholar
  22. 22.
    Binkley KE, Davis A III: Clinical, biochemical and genetic characterization of a novel estrogen dependent inherited form of angioedema. J Allergy Clin Immunol 2000, 106:546–550.PubMedCrossRefGoogle Scholar

Copyright information

© Current Science Inc 2004

Authors and Affiliations

  • Michael M. Frank
    • 1
  1. 1.Children’s Health Center, Duke University Medical CenterDurhamUSA

Personalised recommendations