Hereditary angioedema
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Published:
Dec 30, 2014
Keywords:
hereditary angioedema, C1 estrase inhibitor defciency, treatment of acute oedemas, prophylaxis
Main Article Content
Abstract
Hereditary angioedema (HAE) is a rare autosomal dominant disorder caused by an inherited deficiency or a dysfunction of C1 esterase inhibitor. It is characterized by recurrent, nonpruritic subcutaneous or submucosal edema attacks. Most often edema affects the extremities, face, lips, genitals or gastrointestinal tract. Hereditary angioedema is potentially life-threatening when affect airway leading to asphyxiation. The clinical picture is similar to that of other forms of angioedema, therefore, misdiagnosis or delayed diagnosis is common. Effective management of hereditary angioedema must consider long-term prophylaxis, short-term prophylaxis and treatment of acute attacks.
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How to Cite
Łukowska-Smorawska , K., & Samochocki , Z. (2014). Hereditary angioedema. Alergoprofil, 10(4), 45-50. Retrieved from https://journalsmededu.pl/index.php/alergoprofil/article/view/826
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Copyright: © Medical Education sp. z o.o. This is an Open Access article distributed under the terms of the Attribution-NonCommercial 4.0 International (CC BY-NC 4.0). License (https://creativecommons.org/licenses/by-nc/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
Address reprint requests to: Medical Education, Marcin Kuźma (marcin.kuzma@mededu.pl)
References
1. Milton J.L.: On giant urticaria. Edinburgh Med. J. 1876, 22: 513-526.
2. Osler W.: Hereditary angio-neurotic edema. Am. J. Med. Sci. 1888, 95: 362-367.
3. Donaldson V., Evans R.: A biochemical abnormality in hereditary angioneurotic edema: absence of inhibitor of C1 esterase. Am. J. Med. 1963, 35: 37-44.
4. Tosi M.: Molecular genetics of C-inhibitor. Immunobiology 1998, 199: 358-365.
5. Gomples M., Lock R., Morgan J. et al.: A multicentre evaluation of the diagnostic efficiency of serological investigations for C1 inhibitor deficiency. J. Clin. Pathol. 2002, 55: 145-147
6. Nussgerger J., Cugno M., Amstutz C. et al.: Plasma bradykinin angio-edema. Lancet 1998, 351: 1693-1697.
7. Ciebiada A., Kowalski M.: Obrzęk naczynioruchowy spowodowany niedoborem inhibitora dla składnika C1 dopełniacza. Alergia Astma Immunol. 2000, 5: 43-49.
8. Gompels M.M., Lock R.J., Abinum M. et al.: C1 inhibitor deficiency: consensus document. Clin. Exp. Immunol. 2005, 139: 379-394.
9. Bork K., Barnstedt S., Koch P. et al.: Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 2000, 356: 213-217.
10. Cichon S., Martin L., Hennies H.C. et al.: Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am. J. Hum. Genet. 2006, 79: 1098-1104.
11. Binkley K.E., Davis A.: Clinical, biochemical and genetic characterization of a novel estrogen-dependent inherited form of angioedema. J. Allergy Clin. Immunol. 2000, 106: 546-550.
12. Firszt R., Frank M.M.: An overview of novel therapies for acute hereditary angioedema. Am. J. Clin. Dermatol. 2010, 11(6): 383-388.
13. Bork K., Meng G., Staubach P. et al.: Hereditary angioedema: new findings concerning symptoms, affected organs, and course. Am. J. Med. 2006, 119: 267-274.
14. Agostoni A., Cicardi M.: Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine (Baltimore) 1992, 71: 206-215.
15. Zuraw B.L.: Current and future therapy for hereditary angioedema. Clin. Immunol. 2005, 114: 10-16.
16. Starr J.C., Brasher G.W.: Erythema marginatum preceding hereditary angioedema. J. Allergy Clin. Immunol. 1974, 53: 352-355.
17. Bork K., Barnstedt S.E.: Laryngeal edema and death from asphyxiation after tooth extraction in four patients with hereditary angioedema. J. Am. Dent. Assoc. 2003, 134: 1088-1094.
18. Kaplan A.P., Greaves M.W.: Angioedema. J. Am. Acad. Dermatol. 2005, 53: 373-388.
19. Bruce L., Zuraw M.D., Bork K.: Hereditary angioedema with normal C1 inhibitor function: consensus of an international expert panel. Allergy Asthma Proc. 2012, 33: S145-S156.
20. Lumry W.R., Castaldo A.J., Vernon M.K. et al.: The humanistic burden of hereditary angioedema; Impact on health-related quality of life, productivity, and depression. Allergy Asthma Proc 2010, 31: 511-519.
21. Lunn M.L., Santos C.B., Craig T.J.: Is there a need for clinical guidelines in the United States for the diagnosis of hereditary angioedema and the screening of family members of affected patients. ANN Allergy Asthma Immunol. 2010, 104: 211-214.
22. Maurer M., Parish L.C.: The dermatology view of hereditary angio-oedema: practical diagnostic and management considerations. JEADV 2013, 27: 133-141.
23. Parish L.C.: Hereditary angioedema: diagnosis and management – a perspective for the dermatologist. J. Am. Acad. Dermatol. 2011, 65: 843-850.
24. Farkas H., Jakab L., Temesszentandrasi G et. al.: Hereditary angioedema: a decade of human C1-inhibitor concentrate therapy. J. Allergy Clin. Immunol. 2007, 120: 941-947.
25. Thomas M., Shah S.: New treatment options for acute edema attacks caused by hereditary angioedema. Am. J. Health Syst. Pharm. 2011, 15, 68(22): 2129-2138.
26. Zuraw B.L.: Clinical practice. Hereditary angioedema. N. Engl. J. Med. 2008, 359: 1027-1036.
27. Gadek J.E., Hosea S.W., Gelfand J.A. et al.: Replacement therapy in hereditary angioedema: successful treatment of acute episodes of angioedema with partly purified C1 inhibitor. N. Engl. J. Med. 1980, 302: 542-546.
28. Xu Y.Y., Buyantseva L.V., Agarwal N.S. et al.: Update on treatment of hereditary angioedema. Clin. Exp. Allergy 2013, 43: 395-405.
29. Bork K., Yasothan U., Kirkpatrick P.: Icatibant. Nat. Rev. Drug. Discov. 2008, 7: 801-802.
30. Bowen T., Cicardi M., Farkas H. et al.: Canadian 2003 International Consensus Algorithm for the diagnosis, therapy, and management of hereditary angioedema. J. Allergy Clin. Immunol. 2004, 114: 629-637.
31. Johnson A.M., Alper C.A., Rosen F.S. et al.: C1-inhibitor evidence for decreased hepatic synthesis in hereditary angioedema. Science 1971, 173: 553-554.
32. Banerji A., Sloane D.E., Sheffer A.L.: Hereditary angioedema: a current state-of-the-art review, V: attenued androgens for treatment of hereditary angioedema. Ann. Allergy Asthma Immunol. 2008, 100(supl.): S19-S22.
33. Bowen T., Cicardi M., Bork K. et al.: 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. 2008, 1009(supl. 20): S30-S40.
34. Farkas H., Gyeney L., Majthenyi P. et al.: Angioedema due to acquired C1-esterase inhibitor deficiency in a patient with Helicobacter pylori infection. Z. Gastroenterol. 1999, 37: n513-n518.
35. Maurer M., Magerl M.: Long-term prophylaxis of hereditary angioedema with androgen derivates: a critical appraisal and potential alternatives. J. Dtsch Dermatol. Ges. 2011, 9: 99-107.
36. Gower R.G., Busse P.I., Aygoren-Pursun E. et. al.: Hereditary angioedema caused by C1-esterase inhibitor deficiency: a literature-based analysis and clinical commentary on prophylaxis treatment strategies. WAO J 2011, 4(supl.): S9-S21.
2. Osler W.: Hereditary angio-neurotic edema. Am. J. Med. Sci. 1888, 95: 362-367.
3. Donaldson V., Evans R.: A biochemical abnormality in hereditary angioneurotic edema: absence of inhibitor of C1 esterase. Am. J. Med. 1963, 35: 37-44.
4. Tosi M.: Molecular genetics of C-inhibitor. Immunobiology 1998, 199: 358-365.
5. Gomples M., Lock R., Morgan J. et al.: A multicentre evaluation of the diagnostic efficiency of serological investigations for C1 inhibitor deficiency. J. Clin. Pathol. 2002, 55: 145-147
6. Nussgerger J., Cugno M., Amstutz C. et al.: Plasma bradykinin angio-edema. Lancet 1998, 351: 1693-1697.
7. Ciebiada A., Kowalski M.: Obrzęk naczynioruchowy spowodowany niedoborem inhibitora dla składnika C1 dopełniacza. Alergia Astma Immunol. 2000, 5: 43-49.
8. Gompels M.M., Lock R.J., Abinum M. et al.: C1 inhibitor deficiency: consensus document. Clin. Exp. Immunol. 2005, 139: 379-394.
9. Bork K., Barnstedt S., Koch P. et al.: Hereditary angioedema with normal C1-inhibitor activity in women. Lancet 2000, 356: 213-217.
10. Cichon S., Martin L., Hennies H.C. et al.: Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am. J. Hum. Genet. 2006, 79: 1098-1104.
11. Binkley K.E., Davis A.: Clinical, biochemical and genetic characterization of a novel estrogen-dependent inherited form of angioedema. J. Allergy Clin. Immunol. 2000, 106: 546-550.
12. Firszt R., Frank M.M.: An overview of novel therapies for acute hereditary angioedema. Am. J. Clin. Dermatol. 2010, 11(6): 383-388.
13. Bork K., Meng G., Staubach P. et al.: Hereditary angioedema: new findings concerning symptoms, affected organs, and course. Am. J. Med. 2006, 119: 267-274.
14. Agostoni A., Cicardi M.: Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine (Baltimore) 1992, 71: 206-215.
15. Zuraw B.L.: Current and future therapy for hereditary angioedema. Clin. Immunol. 2005, 114: 10-16.
16. Starr J.C., Brasher G.W.: Erythema marginatum preceding hereditary angioedema. J. Allergy Clin. Immunol. 1974, 53: 352-355.
17. Bork K., Barnstedt S.E.: Laryngeal edema and death from asphyxiation after tooth extraction in four patients with hereditary angioedema. J. Am. Dent. Assoc. 2003, 134: 1088-1094.
18. Kaplan A.P., Greaves M.W.: Angioedema. J. Am. Acad. Dermatol. 2005, 53: 373-388.
19. Bruce L., Zuraw M.D., Bork K.: Hereditary angioedema with normal C1 inhibitor function: consensus of an international expert panel. Allergy Asthma Proc. 2012, 33: S145-S156.
20. Lumry W.R., Castaldo A.J., Vernon M.K. et al.: The humanistic burden of hereditary angioedema; Impact on health-related quality of life, productivity, and depression. Allergy Asthma Proc 2010, 31: 511-519.
21. Lunn M.L., Santos C.B., Craig T.J.: Is there a need for clinical guidelines in the United States for the diagnosis of hereditary angioedema and the screening of family members of affected patients. ANN Allergy Asthma Immunol. 2010, 104: 211-214.
22. Maurer M., Parish L.C.: The dermatology view of hereditary angio-oedema: practical diagnostic and management considerations. JEADV 2013, 27: 133-141.
23. Parish L.C.: Hereditary angioedema: diagnosis and management – a perspective for the dermatologist. J. Am. Acad. Dermatol. 2011, 65: 843-850.
24. Farkas H., Jakab L., Temesszentandrasi G et. al.: Hereditary angioedema: a decade of human C1-inhibitor concentrate therapy. J. Allergy Clin. Immunol. 2007, 120: 941-947.
25. Thomas M., Shah S.: New treatment options for acute edema attacks caused by hereditary angioedema. Am. J. Health Syst. Pharm. 2011, 15, 68(22): 2129-2138.
26. Zuraw B.L.: Clinical practice. Hereditary angioedema. N. Engl. J. Med. 2008, 359: 1027-1036.
27. Gadek J.E., Hosea S.W., Gelfand J.A. et al.: Replacement therapy in hereditary angioedema: successful treatment of acute episodes of angioedema with partly purified C1 inhibitor. N. Engl. J. Med. 1980, 302: 542-546.
28. Xu Y.Y., Buyantseva L.V., Agarwal N.S. et al.: Update on treatment of hereditary angioedema. Clin. Exp. Allergy 2013, 43: 395-405.
29. Bork K., Yasothan U., Kirkpatrick P.: Icatibant. Nat. Rev. Drug. Discov. 2008, 7: 801-802.
30. Bowen T., Cicardi M., Farkas H. et al.: Canadian 2003 International Consensus Algorithm for the diagnosis, therapy, and management of hereditary angioedema. J. Allergy Clin. Immunol. 2004, 114: 629-637.
31. Johnson A.M., Alper C.A., Rosen F.S. et al.: C1-inhibitor evidence for decreased hepatic synthesis in hereditary angioedema. Science 1971, 173: 553-554.
32. Banerji A., Sloane D.E., Sheffer A.L.: Hereditary angioedema: a current state-of-the-art review, V: attenued androgens for treatment of hereditary angioedema. Ann. Allergy Asthma Immunol. 2008, 100(supl.): S19-S22.
33. Bowen T., Cicardi M., Bork K. et al.: 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. 2008, 1009(supl. 20): S30-S40.
34. Farkas H., Gyeney L., Majthenyi P. et al.: Angioedema due to acquired C1-esterase inhibitor deficiency in a patient with Helicobacter pylori infection. Z. Gastroenterol. 1999, 37: n513-n518.
35. Maurer M., Magerl M.: Long-term prophylaxis of hereditary angioedema with androgen derivates: a critical appraisal and potential alternatives. J. Dtsch Dermatol. Ges. 2011, 9: 99-107.
36. Gower R.G., Busse P.I., Aygoren-Pursun E. et. al.: Hereditary angioedema caused by C1-esterase inhibitor deficiency: a literature-based analysis and clinical commentary on prophylaxis treatment strategies. WAO J 2011, 4(supl.): S9-S21.