Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond.
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.
Agostoni
Angelo
A
University of Milan, Italy.
Aygören-Pürsün
Emel
E
Binkley
Karen E
KE
Blanch
Alvaro
A
Bork
Konrad
K
Bouillet
Laurence
L
Bucher
Christoph
C
Castaldo
Anthony J
AJ
Cicardi
Marco
M
Davis
Alvin E
AE
De Carolis
Caterina
C
Drouet
Christian
C
Duponchel
Christiane
C
Farkas
Henriette
H
Fáy
Kálmán
K
Fekete
Béla
B
Fischer
Bettina
B
Fontana
Luigi
L
Füst
George
G
Giacomelli
Roberto
R
Gröner
Albrecht
A
Hack
C Erik
CE
Harmat
George
G
Jakenfelds
John
J
Juers
Mathias
M
Kalmár
Lajos
L
Kaposi
Pál N
PN
Karádi
István
I
Kitzinger
Arianna
A
Kollár
Tímea
T
Kreuz
Wolfhart
W
Lakatos
Peter
P
Longhurst
Hilary J
HJ
Lopez-Trascasa
Margarita
M
Martinez-Saguer
Inmaculada
I
Monnier
Nicole
N
Nagy
István
I
Németh
Eva
E
Nielsen
Erik Waage
EW
Nuijens
Jan H
JH
O'grady
Caroline
C
Pappalardo
Emanuela
E
Penna
Vincenzo
V
Perricone
Carlo
C
Perricone
Roberto
R
Rauch
Ursula
U
Roche
Olga
O
Rusicke
Eva
E
Späth
Peter J
PJ
Szendei
George
G
Takács
Edit
E
Tordai
Attila
A
Truedsson
Lennart
L
Varga
Lilian
L
Visy
Beáta
B
Williams
Kayla
K
Zanichelli
Andrea
A
Zingale
Lorenza
L
D000799:Angioedema / Q000209:etiology* / Q000235:genetics / Q000628:therapy; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency*; D050718:Complement C1 Inhibitor Protein; D003276:Contraceptives, Oral / Q000009:adverse effects; D015914:Estrogen Replacement Therapy / Q000009:adverse effects; D012739:Gonadal Steroid Hormones / Q000502:physiology; D006801:Humans; D009154:Mutation; D015843:Serpins / Q000235:genetics
D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; D003276:Contraceptives, Oral; D012739:Gonadal Steroid Hormones; C469952:SERPING1 protein, human; D015843:Serpins