New insights into hereditary angio-oedema: Molecular diagnosis and therapy

N. Nagy, Clive E. Grattan, John A. McGrath

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)157-162
Number of pages6
JournalAustralasian Journal of Dermatology
Volume51
Issue number3
DOIs
Publication statusPublished - Aug 2010

Fingerprint

Edema
Factor XII
Therapeutics
Complement C1 Inhibitor Protein
Bradykinin Receptors
Hereditary Angioedemas
Mutation
Inborn Genetic Diseases
Kallikreins
Bradykinin
Angiotensin-Converting Enzyme Inhibitors
Genes
Morbidity
Mortality

Keywords

  • bradykinin
  • coagulation factor XII
  • genetic disease
  • oedema
  • skin

ASJC Scopus subject areas

  • Dermatology

Cite this

New insights into hereditary angio-oedema : Molecular diagnosis and therapy. / Nagy, N.; Grattan, Clive E.; McGrath, John A.

In: Australasian Journal of Dermatology, Vol. 51, No. 3, 08.2010, p. 157-162.

Research output: Contribution to journalArticle

Nagy, N. ; Grattan, Clive E. ; McGrath, John A. / New insights into hereditary angio-oedema : Molecular diagnosis and therapy. In: Australasian Journal of Dermatology. 2010 ; Vol. 51, No. 3. pp. 157-162.
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