Advertisement

Internal and Emergency Medicine

, Volume 5, Issue 6, pp 481–486 | Cite as

Angioedema due to C1 inhibitor deficiency in 2010

  • Marco Cicardi
  • Andrea Zanichelli
IM - Review

Abstract

Angioedema is a recurrent, non-pitting, non-pruritic, self-limiting swelling due to transient increase of endothelial permeability in the capillaries of the deep cutaneous and mucosal layers. Two main groups of angioedema should be distinguished based on the response to treatment: those responding to antihistamine and those that do not. Among the last ones, angioedema due to inherited (hereditary angioedema) and acquired (acquired angioedema) C1 inhibitor deficiency are the best defined, and are known to be mediated by bradykinin. The clinical picture is characterized by cutaneous, abdominal, and laryngeal symptoms that are highly disabling, and can be lethal when they affect the larynx, or if they are not promptly and adequately treated. Important advances in diagnosis and treatment of C1 inhibitor deficiency have been made in recent years, and today, we can rely on different therapeutic options to prevent symptoms or to treat those already present. Because of these advances, in patients properly diagnosed and treated, the mortality for the disease has dropped close to zero, and the quality of life for patients approaches that of normal subjects.

Keywords

Angioedema C1 inhibitor 

Notes

Acknowledgment

This study was supported by Telethon grant n. GP08223 and grant from Invernizzi Foundation.

Conflict of interest

None.

References

  1. 1.
    Cugno M, Zanichelli A, Foieni F, Caccia S, Cicardi M (2009) C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress. Trends Mol Med 15:69–78CrossRefPubMedGoogle Scholar
  2. 2.
    Dejana E, Orsenigo F, Lampugnani MG (2008) The role of adherens junctions and VE-cadherin in the control of vascular permeability. J Cell Sci 121:2115–2122CrossRefPubMedGoogle Scholar
  3. 3.
    Zingale LC, Beltrami L, Zanichelli A et al (2006) Angioedema without urticaria: a large clinical survey. Cmaj 175:1065–1070PubMedGoogle Scholar
  4. 4.
    Kaplan AP, Greaves MW (2005) Angioedema. J Am Acad Dermatol 53:373–388 (quiz 89–92)CrossRefPubMedGoogle Scholar
  5. 5.
    Weber MA, Messerli FH (2008) Angiotensin-converting enzyme inhibitors and angioedema: estimating the risk (comment). Hypertension 51:1465–1467CrossRefPubMedGoogle Scholar
  6. 6.
    Lin RY, Shah SN (2008) Increasing hospitalizations due to angioedema in the United States. Ann Allergy Asthma Immunol 101:185–192CrossRefPubMedGoogle Scholar
  7. 7.
    Bowen T, Cicardi M, Bork K et al (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. Ann Allergy Asthma Immunol 100:S30–S40CrossRefPubMedGoogle Scholar
  8. 8.
    Pappalardo E, Caccia S, Suffritti C, Tordai A, Zingale LC, Cicardi M (2008) Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates. Mol Immunol 45:3536–3544CrossRefPubMedGoogle Scholar
  9. 9.
    Wagenaar-Bos IG, Drouet C, Aygoren-Pursun E et al (2008) Functional C1-Inhibitor diagnostics in hereditary angioedema: assay evaluation and recommendations. J Immunol Methods 338:14–20CrossRefPubMedGoogle Scholar
  10. 10.
    Cugno M, Castelli R, Cicardi M (2008) Angioedema due to acquired C1-inhibitor deficiency: a bridging condition between autoimmunity and lymphoproliferation. Autoimmun Rev 8:156–159CrossRefPubMedGoogle Scholar
  11. 11.
    Pappalardo E, Cicardi M, Duponchel C et al (2000) Frequent de novo mutations and exon deletions in the c1inhibitor gene of patients with angioedema. J Allergy Clin Immunol 106:1147–1154CrossRefPubMedGoogle Scholar
  12. 12.
    Zingale LC, Zanichelli A, Deliliers DL, Rondonotti E, De Franchis R, Cicardi M (2008) Successful resolution of bowel obstruction in a patient with hereditary angioedema. Eur J Gastroenterol Hepatol 20:583–587CrossRefPubMedGoogle Scholar
  13. 13.
    Cugno M, Marzano AV, Asero R, Tedeschi A (2010) Activation of blood coagulation in chronic urticaria: pathophysiological and clinical implications. Intern Emerg Med 5:97–101CrossRefPubMedGoogle Scholar
  14. 14.
    Cugno M, Zanichelli A, Bellatorre AG, Griffini S, Cicardi M (2009) Plasma biomarkers of acute attacks in patients with angioedema due to C1-inhibitor deficiency. Allergy 64:254–257CrossRefPubMedGoogle Scholar
  15. 15.
    Bork K, Siedlecki K, Bosch S, Schopf RE, Kreuz W (2000) Asphyxiation by laryngeal edema in patients with hereditary angioedema. Mayo Clin Proc 75:349–354CrossRefPubMedGoogle Scholar
  16. 16.
    Bork K, Fischer B, Dewald G (2003) Recurrent episodes of skin angioedema and severe attacks of abdominal pain induced by oral contraceptives or hormone replacement therapy. Am J Med 114:294–298CrossRefPubMedGoogle Scholar
  17. 17.
    Agostoni A, Cicardi M (1991) Contraindications to the use of ace inhibitors in patients with C1 esterase inhibitor deficiency. Am J Med 90:278PubMedGoogle Scholar
  18. 18.
    Pickering RJ, Good RA, Kelly JR, Gewurz H (1969) Replacement therapy in hereditary angioedema. Successful treatment of two patients with fresh frozen plasma. Lancet 1:326–330CrossRefPubMedGoogle Scholar
  19. 19.
    Marasini B, Cicardi M, Martignoni GC, Agostoni A (1978) Treatment of hereditary angioedema. Klin Wochenschr 56:819–823CrossRefPubMedGoogle Scholar
  20. 20.
    Gadek JE, Hosea SW, Gelfand JA et al (1980) Replacement therapy in hereditary angioedema: successful treatment of acute episodes of angioedema with partly purified C1 inhibitor. N Engl J Med 302:542–546CrossRefPubMedGoogle Scholar
  21. 21.
    Cicardi M, Zingale LC, Zanichelli A, Deliliers DL, Caccia S (2007) The use of plasma-derived C1 inhibitor in the treatment of hereditary angioedema. Expert Opin Pharmacother 8:3173–3181CrossRefPubMedGoogle Scholar
  22. 22.
    Craig TJ, Levy RJ, Wasserman RL et al (2009) Efficacy of human C1 esterase inhibitor concentrate compared with placebo in acute hereditary angioedema attacks. J Allergy Clin Immunol 124:801–808CrossRefPubMedGoogle Scholar
  23. 23.
    Longhurst HJ, Carr S, Khair K (2007) C1-inhibitor concentrate home therapy for hereditary angioedema: a viable, effective treatment option. Clin Exp Immunol 147:11–17PubMedGoogle Scholar
  24. 24.
    Levi M, Choi G, Picavet C, Hack C (2006) Self-administration of C1-inhibitor concentrate in patients with hereditary or acquired angioedema caused by C1-inhibitor deficiency. J Allergy Clin Immunol 117:904–908CrossRefPubMedGoogle Scholar
  25. 25.
    Bork K, Bygum A, Hardt J (2008) Benefits and risks of danazol in hereditary angioedema: a long-term survey of 118 patients. Ann Allergy Asthma Immunol 100:153–161CrossRefPubMedGoogle Scholar
  26. 26.
    Agostoni A, Cicardi M (1992) Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine (Baltimore) 71:206–215Google Scholar
  27. 27.
    Kreuz W, Martinez-Saguer I, Aygoren-Pursun E, Rusicke E, Heller C, Klingebiel T (2009) C1-inhibitor concentrate for individual replacement therapy in patients with severe hereditary angioedema refractory to danazol prophylaxis. Transfusion 49:1987–1995CrossRefPubMedGoogle Scholar
  28. 28.
    Martinez-Saguer I, Rusicke E, Aygoren-Pursun E, von Hentig N, Klingebiel T, Kreuz W (2009) Pharmacokinetic analysis of human plasma-derived pasteurized C1-inhibitor concentrate in adults and children with hereditary angioedema: a prospective study. Transfusion 50:354–360CrossRefPubMedGoogle Scholar
  29. 29.
    Gompels MM, Lock RJ, Abinun M et al (2005) C1 inhibitor deficiency: consensus document. Clin Exp Immunol 139:379–394CrossRefPubMedGoogle Scholar
  30. 30.
    Agostoni A, Martignoni GC (1973) Hereditary angioneurotic oedema. Lancet 2:325CrossRefPubMedGoogle Scholar

Copyright information

© SIMI 2010

Authors and Affiliations

  1. 1.Dipartimento di Scienze Cliniche “Luigi Sacco”Università di MilanoMilanItaly

Personalised recommendations