Angelo Agostoni , MD, Emel Aygören-Pürsün , MD, Karen E. Binkley , MD, FRCPC, Alvaro Blanch ∗ , Konrad Bork , MD ∗ , Laurence Bouillet , MD, CCA ∗ , Christoph Bucher , MD ∗ , Anthony J Castaldo , MPA, Marco Cicardi , MD ∗ , Alvin E Davis III , MD, Caterina De Carolis , MD, Christian Drouet , PhD ∗ , Christiane Duponchel , Henriette Farkas , MD, PhD ∗ , Kálmán Fáy , MD, Béla Fekete , MD, PhD, DSc, Bettina Fischer , MD, Luigi Fontana , MD, George Füst , MD, PhD, DSc ∗ , Roberto Giacomelli , MD, Albrecht Gröner , PhD, C. Erik Hack , MD, PhD ∗ , George Harmat , MD, PhD, John Jakenfelds , MD, Mathias Juers , MD, Lajos Kalmár , Pál N. Kaposi , MD, PhD, István Karádi , MD, PhD, DSc, Arianna Kitzinger , Tímea Kollár , MD, Wolfhart Kreuz , MD, PhD, Peter Lakatos , MD, PhD, DSc, Hilary J. Longhurst , MA, MRCP, PhD, MRCPath ∗ , Margarita Lopez-Trascasa , MD, PhD ∗ , Inmaculada Martinez-Saguer , MD, Nicole Monnier , PhD, István Nagy , Éva Németh , Erik Waage Nielsen , MD, PhD ∗ , Jan H. Nuijens , MD, PhD, Caroline O'Grady , RGN, Emanuela Pappalardo , PhD ∗ , Vincenzo Penna , Carlo Perricone , Roberto Perricone , MD, Ursula Rauch , Olga Roche ∗ , Eva Rusicke , Peter J Späth , PhD, FAMH, George Szendei , MD, Edit Takács , MD, Attila Tordai , MD, PhD ∗ , Lennart Truedsson , MD, PhD ∗ , Lilian Varga , PhD ∗ , Beáta Visy , MD, Kayla Williams , BS, MA, MFA, Andrea Zanichelli , Lorenza Zingale , MD ∗
11 September 2004
AAE, acquired angioedema, angioedema, C1 esterase inhibitor, C1-INH, HAE, HANE, HANO, hereditary angioedema, hereditary angioneurotic edema, angioneurotic edema, chemically induced angioedema, human SERPING1 protein, AAE, Acquired angioedema, AAEE, (Italian) Voluntary Association for the Study, Therapy, and Fight Against Hereditary Angioedema , ACE, Angiotensin-converting enzyme, APP, Aminopeptidase P, AT2, Angiotensin II, B19V, Parvovirus B19, BMD, Bone mineral density, BVDV, Bovine viral diarrhea virus, C1, First component of the complement cascade, C1-INH, C1 esterase inhibitor, C1nh, Murine C1 esterase inhibitor gene, C1NH, Human C1 esterase inhibitor gene, C2, Second component of the complement cascade, C3, Third component of the complement cascade, C4, Fourth component of the complement cascade, C5, Fifth component of the complement cascade, CCM, Chemical cleavage of mismatches, CH50, Total hemolytic complement, 50% cell lysis, Cmax, Maximum concentration, CPMP, Committee for Proprietary Medicinal Products, CPV, Canine parvovirus, DHPLC, Denaturing HPLC, FF, (Ovarian) follicular fluid, FFP, Fresh frozen plasma, HAE, Hereditary angioedema, HAE-I, Hereditary angioedema type I, HAE-II, Hereditary angioedema type II, HAEA, US HAE Association, HAV, Hepatitis A virus, HbsAg, Hepatitis B surface antigen, HBV, Hepatitis B virus, HCV, Hepatitis C virus, HK, High molecular weight kininogen, HRT, Hormone replacement therapy, HUVS, Hypocomplementemic urticaria-vasculitis syndrome, LH, Luteinizing hormone, MASP, Mannose-binding protein associated serine protease, MBL, Mannan-binding lectin, MFO, Multifollicular ovary, MGUS, Monoclonal gammopathies of undetermined significance, Mr, Molecular mass, NAT, Nucleic acid amplification technique, NEP, Neutral endopeptidase, OC, Oral contraceptive, OMIM, Online Mendelian Inheritance in Man (database), PCO, Polycystic ovary, PCT, Primary care trust, PREHAEAT, Novel Methods for Predicting, Preventing, and Treating Attacks in Patients with Hereditary Angioedema , PRV, Pseudorabies virus, rhC1-INH, Recombinant human C1 esterase inhibitor, rtPA, Recombinant tissue-type plasminogen activator, SHBG, Sex hormone binding globulin, SSCA, Single-stranded conformational analysis, tPA, Tissue-type plasminogen activator, UK, United Kingdom
Hereditary angioedema (HAE), a rare but life-threatening condition, manifests as acute attacks of facial, laryngeal, genital, or peripheral swelling or abdominal pain secondary to intra-abdominal edema. Resulting from mutations affecting C1 esterase inhibitor (C1-INH), inhibitor of the first complement system component, attacks are not histamine-mediated and do not respond to antihistamines or corticosteroids. Low awareness and resemblance to other disorders often delay diagnosis; despite availability of C1-INH replacement in some countries, no approved, safe acute attack therapy exists in the United States. The biennial C1 Esterase Inhibitor Deficiency Workshops resulted from a European initiative for better knowledge and treatment of HAE and related diseases. This supplement contains work presented at the third workshop and expanded content toward a definitive picture of angioedema in the absence of allergy. Most notably, it includes cumulative genetic investigations; multinational laboratory diagnosis recommendations; current pathogenesis hypotheses; suggested prophylaxis and acute attack treatment, including home treatment; future treatment options; and analysis of patient subpopulations, including pediatric patients and patients whose angioedema worsened during pregnancy or hormone administration. Causes and management of acquired angioedema and a new type of angioedema with normal C1-INH are also discussed. Collaborative patient and physician efforts, crucial in rare diseases, are emphasized. This supplement seeks to raise awareness and aid diagnosis of HAE, optimize treatment for all patients, and provide a platform for further research in this rare, partially understood disorder.