TY - JOUR
T1 - New insights into hereditary angio-oedema
T2 - Molecular diagnosis and therapy
AU - Nagy, Nikoletta
AU - Grattan, Clive E.
AU - McGrath, John A.
PY - 2010/8
Y1 - 2010/8
N2 - Hereditary angio-oedema (HAE) is a rare but potentially life-threatening condition. Three types are now recognized. Types I and II HAE involve mutations in the C1NH (SERPING1) gene, encoding the C1 inhibitor protein, whereas type III HAE involves mutations in the F12 gene, encoding coagulation factor XII (Hageman factor). They share a common final pathway leading to increased bradykinin formation. HAE must be distinguished from acquired angio-oedema with C1 esterase inhibitor deficiency, angiotensin-converting enzyme inhibitor-induced angio-oedema and the much more common histaminergic angio-oedema, occurring with or without weals. Understanding the pathogenesis of HAE is leading to the introduction of new therapies that target the bradykinin receptor or inhibit kallikrein activity, innovations that will hopefully reduce morbidity and mortality in this group of severe genetic disease.
AB - Hereditary angio-oedema (HAE) is a rare but potentially life-threatening condition. Three types are now recognized. Types I and II HAE involve mutations in the C1NH (SERPING1) gene, encoding the C1 inhibitor protein, whereas type III HAE involves mutations in the F12 gene, encoding coagulation factor XII (Hageman factor). They share a common final pathway leading to increased bradykinin formation. HAE must be distinguished from acquired angio-oedema with C1 esterase inhibitor deficiency, angiotensin-converting enzyme inhibitor-induced angio-oedema and the much more common histaminergic angio-oedema, occurring with or without weals. Understanding the pathogenesis of HAE is leading to the introduction of new therapies that target the bradykinin receptor or inhibit kallikrein activity, innovations that will hopefully reduce morbidity and mortality in this group of severe genetic disease.
UR - http://www.scopus.com/inward/record.url?scp=77955289381&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77955289381&partnerID=8YFLogxK
U2 - 10.1111/j.1440-0960.2010.00649.x
DO - 10.1111/j.1440-0960.2010.00649.x
M3 - Review article
C2 - 20695852
AN - SCOPUS:77955289381
SN - 0004-8380
VL - 51
SP - 157
EP - 162
JO - Australasian Journal of Dermatology
JF - Australasian Journal of Dermatology
IS - 3
ER -