Hereditary angioedema (HAE) caused by a deficiency of C1 esterase inhibitor enzyme (C1-INH) is a very rare, autosomal dominantly inherited genetic disorder, characterized by recurrent peripheral angioedema, painful abdominal attacks and episodes of laryngeal edema. Abdominal attacks are frequent symptoms in adult HAE patients, occurring in more than 90% of the cases. Angioedema in the bowel or abdomen can occur in the absence of cutaneous manifestations and may be easily misdiagnosed unless the clinician has a high degree of awareness to include HAE in the differential diagnosis. Misdiagnosis is associated with inadequate treatments, including unnecessary surgical procedures. Any patient who presents recurrent episodes of swelling should be evaluated for HAE caused by C1-INH deficiency. New therapies could save lives and dramatically improve their quality of life.
1. 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;67:147-157.
2. Bork K, Meng G, Staubach P, Hardt J. Hereditary angioedema: new findings concerning symptoms, affected organs, and corse. The Am J of Med. 2006;119:267-274.
3. Gompels MM, Lock RJ, Abinum M, et al. C1 inhibitor deficiency: consensus document. Clin and Exper Immun. 2005;139:379-394.
4. 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;9:29.
5. Longhurst H, Cicardi M. Hereditary angio-oedema. Lancet. 2012;379:474-481.
6. Bork K, Ressel N. Sudden upper airway obstruction in patients with hereditary angioedema. Transfus Aphers Sci. 2003;29:235-238.
7. 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;31:407-414.
8. Bernstein JA. Update on agioedema: Evaluation, diagnosis, and treatment. Allergy Asthma Proc. 2011;32:408-412.
9. Prior N, Remor E, Traseira CG, et al. Development of a disease-specific quality of life questionnaire for adult patients with hereditary angioedema due to C1 inhibitor deficiency (HAE-QoL): Spanish multi-centre research project. Health and Quality of Life Outcomes. 2012;10:82.
10. Bork K, Staubach P, Eckardt AJ, et al. Symtoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency. Am J Gastroenterol. 2006;101:619-627.
11. Nzeako UC, Longhurst HJ. Many faces of angioedema: focus on the diagnosis and the management of abdominal manifestations of hereditary angioedema. Eur J Gastroenterol Hepatol. 2012;24:353-361.
12. Jalaj S, Scolapio JS. Gastrointestinal Manifestations, Diagnosis, and Management of Hereditary Angioedema. J Clin Gastroenterol. 2013;47:817-823.
13. Ali MA, Borum ML. Hereditary angioedema: what the gastroenterologist needs to know. Clin and Exp Gastroenterol. 2014;7:435-445.
14. Chen X, Yang YX, Liu YL, Gan HT, Wen ZH. Hereditary angioedema a rare cause of recurrent abdominal pain. Pak J Med Sci. 2014;30:1147-1149.
15. Rubinstein E, Stolz LE, Sheffer A, Stevens C, Bousvaros A. Abdominal attacks and treatment in hereditary angioedema with C1-inhibitor deficiency. BMC Gastroenterol. 2014;14:71.
16. Jesic R, Culafic D, Bonacic-Nikolic B. Hereditary angioedema presenting with recurent ascites. Digestive Diseases and Sciences. 2005;50:24-26.
17. Killedar MM, Malani AS. Hereditary angioedema-presenting as recurrent abdominal pain. Indian J Surg. 2011;73:444-446.
18. Wakisaka M, Shuto M, Abe H, et al. Computed tomography of gastrointestinal manifestation of hereditary angioedema. Radiat Med. 2008;26:618-621.
19. Riguzzi C, Losonczy L, Teismann N, Herring AA, Nagdev A. Gastrointestinal manifestation of hereditary angioedema diagnosed by ultrasound in the emergency department. West J Emerg Med. 2014;15:816-818.
20. Reshef A, Prematta MJ, Craig TJ. Signs and symptoms preceding acute attacks of hereditary angioedema: results of three recent surveys. Allergy Asthma Proc. 2013;34:261-266.
21. Prematta MJ, Bewtra AK, Levy RJ, et al. Per-attack reporting of prodromal symptoms concurrent with C1-inhibitor treatment of herditary angioedema attacks. Adv Ther. 2012;29:913-922.
22. Gábos G, Pascarenco O, Bara N, Mihaly E, Moldovan D. Atacurile abdominale din angioedemul ereditar: cauză ignorată a durerilor abdominale recurente. Journal of Gastrointestinal and Liver Disease. 2014;23:234-235.
23. Gábos G, Mihály E, Bara N, Pascarenco O, Moldovan D. Abdominal recurrent attacks in hereditary angioedema due to C1 inhibitor deficiency. Journal of the Romanian Society of Allergology and Clinical Immunology. 2015;XII:12-17.
24. Kaplan AP. Enzymatic pathways in the pathogenesis of hereditary angioedema: the role of C1 inhibitor therapy. J Allergy Clin Immunol. 2010;126:918-925.
25. 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;6:24.
26. Bork K, Davis-Lorton M. Overview of hereditary angioedema caused by C1-inhibitor deficiency: assessment and clinical management. Eur Ann Allergy Clin Immunol. 2013;45:7–16.
27. Bowen T, Cicardi M, Farkas H, Bork K, Kreuz W, et al. Canadian 2003 International Consensus Algorithm For the Diagnosis, Therapy, and Management of Hereditary Angioedema. J Allergy Clin Immunol. 2004;114:629-637.
28. Cicardi M, Aberer W, Banerji A, et al. Classification, diagnosis, and approach to treatment for angioedema: Consensus report from the Hereditary Angioedema International Working Group. Allergy. 2014;69:602-616.
29. Cicardi M, Bellis P, Bertazzoni G, et al. Guidance for diagnosis and treatment of acute angioedema in the emergency department: consensus statement by a panel of Italian experts. Intern Emerg Med. 2014;9:85-92.
30. Longhurst HJ, Tarzi MD, Ashworth F, et al. C1 inhibitor deficiency: 2014 United Kingdom consensus document. Clin and Exper Imm. 2015;180:475-483.