New insights into hereditary angio-oedema: Molecular diagnosis and therapy.
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.
Nagy
Nikoletta
N
St John's Institute of Dermatology, King's College London, UK.
Grattan
Clive E
CE
McGrath
John A
JA
D054179:Angioedemas, Hereditary / Q000145:classification / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000009:adverse effects; D001920:Bradykinin / Q000096:biosynthesis; D065168:Bradykinin Receptor Antagonists; D003174:Complement C1 Inactivator Proteins / Q000235:genetics; D050718:Complement C1 Inhibitor Protein; D004967:Estrogens / Q000009:adverse effects; D005174:Factor XII / Q000235:genetics; D005260:Female; D006801:Humans; D007610:Kallikreins / Q000037:antagonists & inhibitors; D009154:Mutation
D000806:Angiotensin-Converting Enzyme Inhibitors; D065168:Bradykinin Receptor Antagonists; D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; D004967:Estrogens; C469952:SERPING1 protein, human; D005174:Factor XII; D007610:Kallikreins; D001920:Bradykinin