Hereditary angioedema: What the gastroenterologist needs to know

Clinical and Experimental Gastroenterology

Volumn 7, Issue , 2014, Pages 435-445

  Ali, Aamir M ^a   Borum, Marie L ^a  

^a GEORGE WASHINGTON UNIVERSITY   (United States)

Author keywords

Abdominal pain; Diagnosis; Hereditary angioedema

Indexed keywords

AMINOCAPROIC ACID; BRADYKININ; BRADYKININ B2 RECEPTOR ANTAGONIST; COMPLEMENT COMPONENT C1S INHIBITOR; COMPLEMENT COMPONENT C4; DANAZOL; ECALLANTIDE; FRESH FROZEN PLASMA; ICATIBANT; KALLIKREIN; KALLIKREIN INHIBITOR; OXANDROLONE; STANOZOLOL; TRANEXAMIC ACID;

ABDOMINAL PAIN; ANGIONEUROTIC EDEMA; AWARENESS; C1 INH GENE; CAPSULE ENDOSCOPY; CHEMOPROPHYLAXIS; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE BURDEN; DISEASE DURATION; DRUG APPROVAL; DRUG EFFICACY; DRUG MECHANISM; FAMILY HISTORY; GASTROENTEROLOGIST; GENE MUTATION; GENERAL ASPECTS OF DISEASE; HEALTH CARE COST; HUMAN; LARYNX EDEMA; OUTCOME ASSESSMENT; PATHOPHYSIOLOGY; PATIENT IDENTIFICATION; PLASMA TRANSFUSION; PRACTICE GUIDELINE; REVIEW; SYMPTOM;

EID: 84938902224     PISSN: None     EISSN: 11787023     Source Type: Journal    
DOI: 10.2147/CEG.S50465     Document Type: Review

References (78)

1. Lunn ML, Santos CB, Craig TJ. 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(3):211–214.
2. Bork K, Meng G, Staubach P, Hardt J. Hereditary angioedema: new findings concerning symptoms, affected organs, and course. Am J Med. 2006;119(3):267–274.
3. Feller EJ, Spiro HM, Katz LA. Hereditary angioneurotic oedema: an unusual cause of recurring abdominal pain. Gut. 1970;11(12): 983–988.
4. Nzeako UC, Longhurst HJ. Many faces of angioedema: focus on the diagnosis and management of abdominal manifestations of hereditary angioedema. Eur J Gastroenterol Hepatol. 2012;24(4):353–361.
5. Nzeako UC. Diagnosis and management of angioedema with abdominal involvement: a gastroenterology perspective. World J Gastroenterol. 2010;16(39):4913–4921.
6. Zilberberg MD, Nathanson BH, Jacobsen T, Tillotson G. Descriptive epidemiology of hereditary angioedema emergency department visits in the United States, 2006–20Allergy Asthma Proc. 2011;32(5): 390–394.
7. Zilberberg MD, Nathanson BH, Jacobsen T, Tillotson G. Descriptive epidemiology of hereditary angioedema hospitalizations in the United States, 2004–20Allergy Asthma Proc. 2011;32(3):248–254.
8. Lumry WR, Castaldo AJ, Vernon MK, Blaustein MB, Wilson DA, Horn PT. The humanistic burden of hereditary angioedema: impact on health-related quality of life, productivity, and depression. Allergy Asthma Proc. 2010;31(5):407–414.
9. Frank MM. Urticaria and angioedema. In: Goldman L, Bennett JC, editors. Cecil Textbook of Medicine. 21st ed. Philadelphia, PA, USA: WB Saunders; 2000.
10. Talavera A, Larraona JL, Ramos JL, et al. Hereditary angioedema: an infrequent cause of abdominal pain with ascites. Am J Gastroenterol. 1995;90(3):471–474.
11. Cicardi M, Johnston DT. Hereditary and acquired complement com­ponent 1 esterase inhibitor deficiency: a review for the hematologist. Acta Haematol. 2012;127(4):208–220.
12. Caballero T, Baeza ML, Cabanas R, et al. Consensus statement on the diagnosis, management, and treatment of angioedema mediated by bradykinin. Part II. Treatment, follow-up, and special situations. J Investig Allergol Clin Immunol. 2011;21(6):422–441.
13. Agostoni A, Cicardi M. Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine (Baltimore). 1992;71(4):206–215.
14. Gooi JHC. Hereditary angioedema: a clinical review for the general physician. Devon, UK: Priory Lodge Education Limited. Available from: http://www.priory.com/medicine/angioedema.htm. Accessed January 17, 2014.
15. Longhurst H, Cicardi M. Hereditary angio-oedema. Lancet. 2012;379(9814):474–481.
16. Cugno M, Zanichelli A, Foieni F, Caccia S, Cicardi M. C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress. Trends Mol Med. 2009;15(2):69–78.
17. Kalmar L, Hegedus T, Farkas H, Nagy M, Tordai A. HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene. Hum Mutat. 2005;25(1):1–5.
18. Caballero T, Baeza ML, Cabanas R, et al. Consensus statement on the diagnosis, management, and treatment of angioedema mediated by bradykinin. Part I. Classification, epidemiology, pathophysiology, genetics, clinical symptoms, and diagnosis. J Investig Allergol Clin Immunol. 2011;21(5):333–347.
19. Zuraw, B, Bork K, Binkley KE, et al. Hereditary angioedema with normal C1 inhibitor function: consensus of an international expert panel. Allergy Asthma Proc. 2012;33 Suppl 1:S145–S156.
20. Antoniu SA. Therapeutic approaches in hereditary angioedema. Clin Rev Allergy Immunol. 2011;41(1):114–122.
21. Davis AE III, Lu F, Mejia P. C1 inhibitor, a multi-functional serine protease inhibitor. Thromb Haemost. 2010;104(5):886–893.
22. Levy JH, O’Donnell PS. The therapeutic potential of a kallikrein inhibitor for treating hereditary angioedema. Expert Opin Investig Drugs. 2006;15(9):1077–1090.
23. Bryant JW, Shariat-Madar Z. Human plasma kallikrein-kinin system: physiological and biochemical parameters. Cardiovasc Hematol Agents Med Chem. 2009;7(3):234–250.
24. Kaplan AP. Kinins, airway obstruction, and anaphylaxis. Chem Immunol Allergy. 2010;95:67–84.
25. Morgan BP. Hereditary angioedema: therapies new and old. N Engl J Med. 2010;363(6):581–583.
26. 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(4):294–298.
27. Agostoni A, Cicardi M, Cugno M, Zingale LC, Gioffré D, Nussberger J. Angioedema due to angiotensin-converting enzyme inhibitors. Immunopharmacology. 1999;44(1–2):21–25.
28. Kaplan AP. Enzymatic pathways in the pathogenesis of hereditary angioedema: the role of C1 inhibitor therapy. J Allergy Clin Immunol. 2010;126(5):918–925.
29. Frank MM, Gelfand JA, Atkinson JP. Hereditary angioedema: the clinical syndrome and its management. Ann Intern Med. 1976;84(5):580–593.
30. Bork K, Staubach P, Eckardt AJ, Hardt J. Symptoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency. Am J Gastroenterol. 2006;101(3): 619–627.
31. Agostoni A, Aygoren-Pursun E, Binkley KE, et al. Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. J Allergy Clin Immunol. 2004;114(Suppl 3):S51–S131.
32. Locascio EJ, Mahler SA, Arnold TC. Intestinal angioedema misdiagnosed as recurrent episodes of gastroenteritis. West J Emerg Med. 2010;11(4):391–394.
33. Ohsawa I, Nagamachi S, Suzuki H, et al. Leukocytosis and high hematocrit levels during abdominal attacks of hereditary angioedema. BMC Gastroenterol. 2013;13:123.
34. Bork K, Siedlecki K, Bosch S, Schopf RE, Kreuz W. Asphyxiation by laryngeal edema in patients with hereditary angioedema. Mayo Clin Proc. 2000;75(4):349–354.
35. Farkas H. Management of upper airway edema caused by hereditary angioedema. Allergy Asthma Clin Immunol. 2010;6(1):19.
36. Zanichelli A, Magerl M, Longhurst H, Fabien V, Maurer M. Hereditary angioedema with C1 inhibitor deficiency: delay in diagnosis in Europe. Allergy Asthma Clin Immunol. 2013;9(1):29.
37. Farkas H, Harmat G, Fáy A, et al. Erythema marginatum preceding an acute oedematous attack of hereditary angioneurotic oedema. Acta Derm Venereol. 2001;81(5):376–377.
38. Zuraw BL. Hereditary angioedema. N Engl J Med. 2008;359(10): 1027–1036.
39. De Backer AI, De Schepper AM, Vandevenne JE, Schoeters P, Michielsen P, Stevens WJ. CT of angioedema of the small bowel. AJR Am J Roentgenol. 2001;176(3):649–652.
40. Farkas H, Harmat G, Kaposi PN, et al. Ultrasonography in the diagnosis and monitoring of ascites in acute abdominal attacks of hereditary angioneurotic oedema. Eur J Gastroenterol Hepatol. 2001;13(10):1225–1230.
41. Pedrosa M, Caballero T, Gómez-Traseira C, Olveira A, López-Serrano C. Usefulness of abdominal ultrasonography in the follow-up of patients with hereditary C1-inhibitor deficiency. Ann Allergy Asthma Immunol. 2009;102(6):483–486.
42. Dinkel HP, Maroske J, Schrod L. Sonographic appearances of the abdominal manifestations of hereditary angioedema. Pediatr Radiol. 2001;31(4):296–298.
43. Hoxha M, Meta D, Kalo T. Hereditary angioedema as a potential cause of cerebral edema. Otorhinolaryngologia – Head and Neck Surgery. 2013;51:31–34.
44. Zingale LC, Zanichelli A, Deliliers DL, Rondonotti E, De Franchis R, Cicardi M. Successful resolution of bowel obstruction in a patient with hereditary angioedema. Eur J Gastroenterol Hepatol. 2008;20(6): 583–587.
45. Gompels MM, Lock RJ, Morgan JE, Osborne J, Brown A, Virgo PF. A multicentre evaluation of the diagnostic efficiency of serological investigations for C1 inhibitor deficiency. J Clin Pathol. 2002;55(2): 145–147.
46. Gompels MM, Lock RJ, Abinun M, et al. C1 inhibitor deficiency: consensus document. Clin Exp Immunol. 2005;139(3):379–394.
47. Bowen T. Hereditary Angioedema Consensus 20Allergy Asthma Clin Immunol. 2010;6(1):13.
48. Bork K. Diagnosis and treatment of hereditary angioedema with normal C1 inhibitor. Allergy Asthma Clin Immunol. 2010;6(1):15.
49. Eidelman FJ. Hereditary angioedema: New therapeutic options for a potentially deadly disorder. BMC Blood Disord. 2010;10:3.
50. Bowen T, Cicardi M, Farkas H, et al. 2010 international consensus algorithm for the diagnosis, therapy and management of hereditary angioedema. Allergy Asthma Clin Immunol. 2010;6(1):24.
51. Caballero T, Sala-Cunill A, Cancian M, et al. Current status of implementation of self-administration training in various regions of Europe, Canada and the USA in the management of hereditary angioedema. Int Arch Allergy Immunol. 2013;161 Suppl 1:10–16.
52. Riedl MA. Creating a comprehensive treatment plan for hereditary angioedema. Immunol Allergy Clin N Am. 2013;33(4):471–485.
53. Craig T, Aygören-Pürsün E, Bork K, et al. WAO guideline for the management of hereditary angioedema. World Allergy Organ J. 2012;5(12):182–199.
54. Cicardi M, Bork K, Caballero T, et al. Evidence-based recommendations for the therapeutic management of angioedema owing to hereditary C1 inhibitor deficiency: consensus report of an International Working Group. Allergy. 2012;67(2):147–157.
55. Banerji A. Current treatment of hereditary angioedema: an update on clinical studies. Allergy Asthma Proc. 2010;31(5):398–406.
56. Temino VM, Peebles RS Jr. The spectrum and treatment of angioedema. Am J Med. 2008;121(4):282–286.
57. Zuraw BL, Bernstein JA, Lang DM, et al; American Academy of Allergy, Asthma and Immunology; American College of Allergy, Asthma and Immunology. A focused parameter update: hereditary angioe­dema, acquired C1 inhibitor deficiency, and angiotensin-converting enzyme inhibitor-associated angioedema. J Allergy Clin Immunol. 2013;131(6):1491–1493.
58. Epstein TG, Bernstein JA. Current and emerging management options for hereditary angioedema in the US. Drugs. 2008;68(18):2561–2573.
59. Berinert [C1 esterase inhibitor (human)] package insert. Kankakee, IL, USA: CSL Behring; 2011.
60. Cinryze (C1 esterase inhibitor) package insert. Exton, PA, USA: ViroP­harma Biologics; 2012.
61. Cetor (C1 esterase inhibitor) 500 U powder and solvent for solution for injection (package leaflet). Amsterdam, The Netherlands: Sanquin Blood Supply Foundation; 2003.
62. Varga L, Farkas H. rhC1INH: a new drug for the treatment of attacks in hereditary angioedema caused by C1-inhibitor deficiency. Expert Rev Clin Immunol. 2011;7(2):143–153.
63. Ruconest (Rhucin in non-European territories). Recombinant human C1 esterase inhibitor. Pharming: Leiden, the Netherlands; 20Available from: http://www.pharming.com/index.php?act=prod. Accessed February 17, 2014.
64. Santarus. Santarus and Pharming announce FDA acceptance for review of Ruconest (recombinant human C1 esterase inhibitor) Biologics License Application. June 18, 20Available from: http://www.businesswire.com/news/home/20130617006581/en/Santarus-Pharming-Announce-FDA-Acceptance-Review-RUCONEST#.UtlxG50o7IU. Accessed January 17, 20Accessed October 8, 2013.
65. Lunn M, Banta E. Ecallantide for the treatment of hereditary angiodema in adults. Clin Med Insights Cardiol. 2011;5:49–54.
66. Kalbitor (ecallantide) package insert. Burlington, MA, USA: Dyax Corp; 2012.
67. Levy RJ, Lumry WR, McNeil DL, et al. EDEMA4: a phase 3, double-blind study of subcutaneous ecallantide treatment for acute attacks of hereditary angioedema. Ann Allergy Asthma Immunol. 2010;104(6): 523–529.
68. Dubois EA, Cohen AF. Icatibant. Br J Clin Pharmacol. 2010;69(5): 425–426.
69. Firazyr (icatibant) package insert. Lexington, MA: Shire Orphan Therapies, Inc; 2011.
70. Schmidt PW, Hirschl MM, Trautinger F. Treatment of angiotensin-converting enzyme inhibitor-related angioedema with the bradykinin B2 receptor antagonist icatibant. J Am Acad Dermatol. 2010;63(5): 913–914.
71. Prematta M, Gibbs JG, Pratt EL, Stoughton TR, Craig TJ. Fresh frozen plasma for the treatment of hereditary angioedema. Ann Allergy Asthma Immunol. 2007;98(4):383–388.
72. Longhurst HJ. Emergency treatment of acute attacks in hereditary angioedema due to C1 inhibitor deficiency: what is the evidence? Int J Clin Pract. 2005;59(5):594–599.
73. Pekdemir M, Ersel M, Aksay E, Yanturali S, Akturk A, Kiyan S. Effective treatment of hereditary angioedema with fresh frozen plasma in an emergency department. J Emerg Med. 2007;33(2):137–179.
74. Drouet C, Desormeaux A, Robillard J, et al. Metallopeptidase activities in hereditary angioedema: effect of androgen prophylaxis on plasma aminopeptidase P. J Allergy Clin Immunol. 2008;121(2):429–433.
75. Bork K. Current management options for hereditary angioedema. Curr Allergy Asthma Rep. 2012;12(4):273–280.
76. Frank MM. Update on preventive therapy (prophylaxis) of hereditary angioedema. Allergy Asthma Proc. 2011;32(1):17–21.
77. Sloane DE, Lee CW, Sheffer AL. Hereditary angioedema: Safety of long-term stanozolol therapy. J Allergy Clin Immunol. 2007;120(3): 654–658.
78. Zuraw BL, Busse PJ, White M, et al. Nanofiltered C1 inhibitor concentrate for treatment of hereditary angioedema. N Engl J Med. 2010;363(6):513–522.