Episode 26 – HAE and plasminogen mutation

What are the clinical signs, symptoms, and pathomechanisms of HAE caused by a plasminogen mutation, a recently identified cause of HAE with normal C1 inhibitor activity? Dr Thomas Buttgereit and Dr Andreas Recke discuss this rare type of recurrent HAE, which can manifest for the first time in older adults, and note how “this is atypical for a genetic disease – normally, genetic diseases are hard-wired”.

For more information about the GA2LEN ACARE network and its activities please visit https://acare-network.com/. Additional resources relating to the topics discussed in this episode can be found here: Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema; Screening for plasminogen mutations in hereditary angioedema patients; and Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene.