Diagnosis of hereditary angioedema

• Authors: Kinga Viktória Kőhalmi , László Cervenak , Henriette Farkas

Title variants

PL

Diagnostyka wrodzonego obrzęku naczynioruchowego

• Languages of publication: EN PL

Abstracts

EN

Hereditary angioedema (HAE) is a rare disorder characterized by acute episodes of edema formation in the subcutis and/or the submucosa. The clinical picture of the disease resembles that of histamine-mediated angioedema, nevertheless bradykinin release is involved in the pathomechanism of HAE. The diagnosis of HAE can be established from the clinical manifestations, the family history, as well as the findings of complement and genetic tests. Currently, the six types of hereditary angioedema are distinguished: types I and II of hereditary angioedema with C1-inhibitor (C1-INH) deficiency (C1-INH-HAE) and the following types of hereditary angioedema with normal C1-INH levels: hereditary angioedema caused by a mutation in the Factor XII gene (FXII-HAE), the angiopoietin-1 gene (ANGPT1-HAE), and the plasminogen gene (PLG-HAE) – and hereditary angioedema of unknown origin (U-HAE). Current options for the laboratory diagnosis of angioedemas include means for identifying C1-INH-HAE, FXII-HAE, ANGPT1-HAE, PLG-HAE and acquired angioedema with C1-INH deficiency (C1-INH-AAE). No laboratory method is available currently for diagnosing the other types of angioedemas such as idiopathic histaminergic acquired angioedema (IH-AAE), idiopathic non-histaminergic acquired angioedema (InH-AAE), acquired angioedema related to angiotensin-converting enzyme inhibitor (ACEI-AAE), and U-HAE. These disease types can be identified only by indirect methods, i.e. by exploring medical and family history, observing the clinical manifestations and the therapeutic response, as well as by excluding the presence of C1-INH deficiency, FXII-HAE, ANGPT1-HAE, and PLG-HAE.

Keywords

EN

C1-inhibitor; bradykinin; complementtesting; diagnosis; genetic testing; hereditary angioedema

Discipline

• MEDICINE: MEDICINE

• Publisher: Oficyna Wydawnicza Mediton
• Journal: Alergia Astma Immunologia - przegląd kliniczny
• Year: 2018
• Volume: 23
• Issue: 4
• Pages: 168-174

Contributors

author

Kinga Viktória Kőhalmi

• Hungarian Angioedema Reference Center, 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary, 3rd Department of Internal Medicine, Semmelweis University, Research Laboratory, Budapest, Hungary

author

László Cervenak

• 3rd Department of Internal Medicine, Semmelweis University, Research Laboratory, Budapest, Hungary

author

Henriette Farkas

• Hungarian Angioedema Reference Center, 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary, 3rd Department of Internal Medicine, Semmelweis University, Research Laboratory, Budapest, Hungary

References

• 1. Longhurst H, Cicardi M. Hereditary angio-oedema. Lancet 2012; 379: 474-81.
• 2. Craig TJ BJ, Farkas H, Bouillet L, Boccon-Gibod I. Diagnosis and treatment of bradykinin-mediated angioedema: outcomes from an angioedema expert consensus meeting. Int Arch Allergy Immunol 2014; 165: 119-27.
• 3. Farkas H. Current pharmacotherapy of bradykinin-mediated angioedema. Expert Opin Pharmacother 2013; 14: 571-86.
• 4. 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: 602-16.
• 5. Dewald G, Bork K. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun 2006; 343: 1286-9.
• 6. Bafunno V, Firinu D, D'Apolito M, et al. Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. J Allergy Clin Immunol 2018; 141: 1009-17.
• 7. Bork K, Wulff K, Steinmuller-Magin L, et al. Hereditary angioedema with a mutation in the plasminogen gene. Allergy 2018; 73: 442- 50.
• 8. Zanichelli A, Longhurst HJ, Maurer M, et al. Misdiagnosis trends in patients with hereditary angioedema from the real-world clinical setting. Ann Allergy Asthma Immunol 2016; 117: 394-8.
• 9. Farkas H. Pediatric hereditary angioedema due to C1-inhibitor deficiency. Allergy Asthma Clin Immunol 2010; 6: 18.
• 10. Farkas H. Pediatric aspects of hereditary angioedema: diagnosis, treatment, and follow-up. Medical Clinics of North America 2010; Suppl 1: 1-8.
• 11. Bork K, Wulff K, Witzke G, et al. Hereditary angioedema with normal C1-INH with versus without specific F12 gene mutations. Allergy 2015; 70:1004-12.
• 12. Deroux A, Boccon-Gibod I, Fain O, et al. Hereditary angioedema with normal C1 inhibitor and factor XII mutation: a series of 57 patients from the French National Center of Reference for Angioedema. Clin Exp Immunol 2016; 185: 332-7.
• 13. Marcos C, Lopez Lera A, Varela S, et al. Clinical, biochemical, and genetic characterization of type III hereditary angioedema in 13 Northwest Spanish families. Ann Allergy Asthma Immunol 2012; 109: 195-200 e2.
• 14. Pinero-Saavedra M, Gonzalez-Quevedo T, Saenz de San Pedro B, et al. Hereditary angioedema with F12 mutation: Clinical features and enzyme polymorphisms in 9 Southwestern Spanish families. Ann Allergy Asthma Immunol 2016; 117: 520-6.
• 15. Mansi M, Zanichelli A, Coerezza A, et al. Presentation, diagnosis and treatment of angioedema without wheals: a retrospective analysis of a cohort of 1058 patients. J Intern Med 2015; 277: 585-93.
• 16. Andrasi N, Veszeli N, Kohalmi KV, et al. Idiopathic Nonhistaminergic Acquired Angioedema Versus Hereditary Angioedema. J Allergy Clin Immunol Pract 2018; 6: 1205-8.
• 17. Veronez CL, Moreno AS, Constantino-Silva RN, et al. Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families. J Allergy Clin Immunol Pract 2018; 6: 1209-16 e8.
• 18. Farkas H. Management of upper airway edema caused by hereditary angioedema. Allergy Asthma Clin Immunol 2010; 6(1): 19.
• 19. Bork K, Meng G, Staubach P, et al. Hereditary angioedema: new findings concerning symptoms, affected organs, and course. Am J Med 2006; 119: 267-74.
• 20. Czaller I, Molnar K, Csuka D, et al. Successful outcome using C1-inhibitor concentrate in acute pancreatitis caused by hereditary angioedema. Gastroenterol Nurs 2011; 34: 60-3.
• 21. Sunder TR, Balsam MJ, Vengrow MI. Neurological manifestations of angioedema. Report of two cases and review of the literature. JAMA 1982; 247: 2005-7.
• 22. 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: S51-131.
• 23. Farkas H, Martinez-Saguer I, Bork K, et al. International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency. Allergy 2017; 72: 300-13.
• 24. Farkas H, Varga L, Szeplaki G, et al. Management of hereditary angioedema in pediatric patients. Pediatrics 2007; 120(3): e713-22.
• 25. Caballero T, Farkas H, Bouillet L, et al. International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency. J Allergy Clin Immunol 2012; 129: 308-20.
• 26. Pedrosa M, Phillips-Angles E, Lopez-Lera A, et al. Complement Study Versus CINH Gene Testing for the Diagnosis of Type I Hereditary Angioedema in Children. J Clin Immunol 2016; 36: 16-8.
• 27. Aabom A, Bygum A, Koch C. Complement factor C4 activation in patients with hereditary angioedema. Clin Biochem 2017; 50: 816- 21.
• 28. Prohaszka Z, Nilsson B, Frazer-Abel A, et al. Complement analysis 2016: Clinical indications, laboratory diagnostics and quality control. Immunobiol 2016; 221: 1247-58.
• 29. Loules G, Zamanakou M, Parsopoulou F, et al. Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency. Gene 2018; 667: 76-82.
• 30. Csuka D, Veszeli N, Imreh E, et al. Comprehensive study into the activation of the plasma enzyme systems during attacks of hereditary angioedema due to C1-inhibitor deficiency. Orphanet J Rare Dis 2015; 10: 132.
• 31. Veszeli N, Csuka D, Zotter Z, et al. Neutrophil activation during attacks in patients with hereditary angioedema due to C1-inhibitor deficiency. Orphanet J Rare Dis 2015; 10: 156.
• 32. Farkas H, Veszeli N, Kajdacsi E, et al. "Nuts and Bolts" of Laboratory Evaluation of Angioedema. Clin Rev Allergy Immunol 2016; 51: 140-51.
• 33. Reshef A, Zanichelli A, Longhurst H, et al. Elevated D-dimers in attacks of hereditary angioedema are not associated with increased thrombotic risk. Allergy 2015; 70: 506-13.
• 34. Lara-Marquez ML, Christiansen SC, Riedl MA, et al. Threshold-stimulated kallikrein activity distinguishes bradykinin - from histamine-mediated angioedema. Clin Exp Allergy 2018; 48: 1429-38.
• 35. Zuberbier T, Aberer W, Asero R, et al. The EAACI/GA(2) LEN/EDF/ WAO Guideline for the definition, classification, diagnosis, and management of urticaria: the 2013 revision and update. Allergy 2014; 69: 868-87.

• Document Type: article