Timeline
- 1882 Heinrich Quincke described acute swelling of the skin and mucous membranes.
- 1888 William Osler identified the hereditary pattern by observing cases within the same family.
- 1963 Donaldson and Evans identified the deficiency of C1-INH as the cause of HAE.
- 1986 R. P. Warin and colleagues made the first description of HAE with normal C1-esterase.
- 2000 Konrad Bork and colleagues presented one of the first series of patients with normal C1-INH and proposed HAE type III.
- 2006 Dewald, Bork and Cichon described the molecular basis of HAE with normal C1-INH involving mutations in the F12 gene.
- 2011 Konrad Bork and colleagues described a mutation in the F12 gene (72-base deletion).
- 2013 Nora Kiss and colleagues identified a new mutation in the F12 gene (18-base duplication).
- 2017 Valeria Bafunno and colleagues identified a mutation in the ANGPT1 gene associated with HAE with normal C1-INH; and Konrad Bork and colleagues described mutations in the PLG gene.
- 2019 Konrad Bork and colleagues found a mutation in the KNG1 gene (kininogen 1).
- 2020 Anastasia Ariano and colleagues identified a mutation in the MYOF gene (myoferlin) in patients with normal C1-INH.
- 2021 Konrad Bork and colleagues described a mutation in the HS3ST6 gene, associated with HAE with normal C1-INH.
Why is this important?
Over the past decades, scientific advancement has made it possible to understand that HAE is not a common allergy, but a condition primarily mediated by mechanisms involving bradykinin. This knowledge has enabled improved diagnosis and the development of specific treatments.