Hereditary angioedema: Diagnosis and management-a perspective for the dermatologist

Journal of the American Academy of Dermatology

Volumn 65, Issue 4, 2011, Pages 843-850

  Parish, Lawrence Charles ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

C1 esterase inhibitor; hereditary angioedema

Indexed keywords

ADRENALIN; AMINOCAPROIC ACID; ANTIHISTAMINIC AGENT; COMPLEMENT COMPONENT C1S INHIBITOR; CORTICOSTEROID; DANAZOL; ECALLANTIDE; FRESH FROZEN PLASMA; ICATIBANT; OXANDROLONE; STANOZOLOL; TRANEXAMIC ACID;

ABDOMINAL PAIN; ANAPHYLAXIS; ANGIONEUROTIC EDEMA; ASPHYXIA; ATHEROSCLEROSIS; CHOLESTASIS; CLINICAL TRIAL; DELAYED DIAGNOSIS; DERMATITIS; DIAGNOSTIC ERROR; DIARRHEA; DIFFERENTIAL DIAGNOSIS; DISORDERS OF LIPOPROTEIN METABOLISM; FEVER; GENETIC DISORDER; HEADACHE; HUMAN; HYPERTENSION; INJECTION SITE REACTION; LIVER ADENOMA; LIVER CELL CARCINOMA; LIVER NECROSIS; MUSCLE SPASM; NAUSEA; PAIN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; RHINOPHARYNGITIS; SIDE EFFECT; SINUSITIS; SYMPTOM; UPPER RESPIRATORY TRACT INFECTION; URTICARIA; VASOMOTOR DISORDER; VIRILIZATION; VOMITING; WEIGHT GAIN;

ADOLESCENT; ADULT; ANDROGENS; ANGIOEDEMAS, HEREDITARY; ANTIFIBRINOLYTIC AGENTS; COMPLEMENT C1 INHIBITOR PROTEIN; DANAZOL; HUMANS;

EID: 80052788048     PISSN: 01909622     EISSN: 10976787     Source Type: Journal    
DOI: 10.1016/j.jaad.2010.09.715     Document Type: Review

References (36)

1. M.M. Gompels, R.J. Lock, M. Abinun, C.A. Bethune, G. Davies, and C. Grattan C1 inhibitor deficiency: consensus document Clin Exp Immunol 139 2005 379 394 (Pubitemid 40333248)
2. M. Cicardi, and A. Agostoni Hereditary angioedema N Engl J Med 334 1996 1666 1667 (Pubitemid 26192529)
3. K. Bork, G. Meng, P. Staubach, and J. Hardt Hereditary angioedema: new findings concerning symptoms, affected organs, and course Am J Med 119 2006 267 274 (Pubitemid 43255068)
4. K. Bork, P. Staubach, A.J. Eckardt, and J. Hardt Symptoms, course, and complications of abdominal attacks in hereditary angioedema due to C1 inhibitor deficiency Am J Gastroenterol 101 2006 619 627 (Pubitemid 43340941)
5. A. Agostoni, and M. Cicardi Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients Medicine (Baltimore) 71 1992 206 215
6. O. Roche, A. Blanch, T. Caballero, N. Sastre, D. Callejo, and M. Lopez-Trascasa Hereditary angioedema due to C1 inhibitor deficiency: patient registry and approach to the prevalence in Spain Ann Allergy Asthma Immunol 94 2005 498 503 (Pubitemid 40547939)
7. J.L. Milton On giant urticaria Edinb Med J 22 1876 513 526
8. H. Quincke Concerning the acute localized edema of the skin Monatsh Prakt Derm 1 1882 129 131
9. W. Osler Hereditary angio-neurotic edema Am J Med Sci 95 1888 362 367
10. V.H. Donaldson, and R.R. Evans A biochemical abnormality in hereditary angioneurotic edema: absence of serum inhibitor of C' 1-esterase Am J Med 35 1963 37 44
11. A.E. Davis III, P. Mejia, and F. Lu Biological activities of C1 inhibitor Mol Immunol 45 2008 4057 4063
12. B.L. Zuraw, and M. Lotz Regulation of the hepatic synthesis of C1 inhibitor by the hepatocyte stimulating factors interleukin 6 and interferon gamma J Biol Chem 265 1990 12664 12670
13. K. Zahedi, A.E. Prada, and A.E. Davis III Structure and regulation of the C1 inhibitor gene Behring Inst Mitt 93 1993 115 119
14. M. Cugno, A. Zanichelli, F. Foieni, S. Caccia, and M. Cicardi C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress Trends Mol Med 15 2009 69 78
15. E. Pappalardo, M. Cicardi, C. Duponchel, A. Carugati, S. Choquet, and A. Agostoni Frequent de novo mutations and exon deletions in the C1 inhibitor gene of patients with angioedema J Allergy Clin Immunol 106 2000 1147 1154 (Pubitemid 32006270)
16. K. Bork, S.E. Barnstedt, P. Koch, and H. Traupe Hereditary angioedema with normal C1-inhibitor activity in women Lancet 356 2000 213 217 (Pubitemid 30446977)
17. G. Dewald, and K. Bork Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor Biochem Biophys Res Commun 343 2006 1286 1289
18. B.L. Zuraw Clinical practice: hereditary angioedema N Engl J Med 359 2008 1027 1036
19. J.C. Starr, and G.W. Brasher Erythema marginatum preceding hereditary angioedema J Allergy Clin Immunol 53 1974 352 355
20. K. Bork, and S.E. Barnstedt Laryngeal edema and death from asphyxiation after tooth extraction in four patients with hereditary angioedema J Am Dent Assoc 134 2003 1088 1094 (Pubitemid 38175476)
21. K. Bork, K. Siedlecki, S. Bosch, R.E. Schopf, and W. Kreuz Asphyxiation by laryngeal edema in patients with hereditary angioedema Mayo Clin Proc 75 2000 349 354 (Pubitemid 30187107)
22. U.C. Nzeako, E. Frigas, and W.J. Tremaine Hereditary angioedema: a broad review for clinicians Arch Intern Med 161 2001 2417 2429 (Pubitemid 33043115)
23. M.M. Gompels, and R.J. Lock C1 inhibitor deficiency: diagnosis Clin Exp Dermatol 30 2005 460 462 (Pubitemid 40835367)
24. M. Cugno, R. Castelli, and M. Cicardi Angioedema due to acquired C1-inhibitor deficiency: a bridging condition between autoimmunity and lymphoproliferation Autoimmun Rev 8 2008 156 159
25. M. Cicardi, L.C. Zingale, E. Pappalardo, A. Folcioni, and A. Agostoni Autoantibodies and lymphoproliferative diseases in acquired C1-inhibitor deficiencies Medicine (Baltimore) 82 2003 274 281 (Pubitemid 36859223)
26. J.B. Byrd, A. Adam, and N.J. Brown Angiotensin-converting enzyme inhibitor-associated angioedema Immunol Allergy Clin North Am 26 2006 725 737 (Pubitemid 44679724)
27. A.P. Kaplan, and M.W. Greaves Angioedema J Am Acad Dermatol 53 2005 373 388 (Pubitemid 41195957)
28. T. Craig, M. Riedl, M.S. Dykewicz, R.G. Gower, J. Baker, and F.J. Edelman When is prophylaxis for hereditary angioedema necessary? Ann Allergy Asthma Immunol 102 2009 366 372
29. B.L. Zuraw Hereditary angioedema: a current state-of-the-art review, IV: short- and long-term treatment of hereditary angioedema: out with the old and in with the new? Ann Allergy Asthma Immunol 100 Suppl 2008 S13 S18
30. A. Banerji, D.E. Sloane, and A.L. Sheffer Hereditary angioedema: a current state-of-the-art review, V: attenuated androgens for the treatment of hereditary angioedema Ann Allergy Asthma Immunol 100 Suppl 2008 S19 S22
31. Cinryze [package insert] 2009 Lev Pharmaceuticals Inc New York, NY
32. M. Prematta, J.G. Gibbs, E.L. Pratt, T.R. Stoughton, and T.J. Craig Fresh frozen plasma for the treatment of hereditary angioedema Ann Allergy Asthma Immunol 98 2007 383 388 (Pubitemid 46582131)
33. Berinert [package insert] 2009 CSL Behring LLC Kankakee, IL
34. S.I. Krassilnikova, Y.S. Nikiforov, and T.J. Craig Treatment of hereditary angioedema: current perspectives Recent Pat Inflamm Allergy Drug Discov 2 2008 166 174
35. M.M. Frank Hereditary angioedema: a current state-of-the-art review, VI: novel therapies for hereditary angioedema Ann Allergy Asthma Immunol 100 Suppl 2008 S23 S29
36. Kalbitor [package insert] 2009 Dyax Corp Cambridge, MA