Kallikrein–kinin system and fibrinolysis in hereditary angioedema due to factor XII gene mutation Thr309Lys

K Bork, R Kleist, J Hardt, G Witzke - Blood coagulation & …, 2009 - journals.lww.com
In a subgroup of hereditary angioedema (HAE) patients with normal C1-esterase inhibitor
levels, HAE is caused by a Thr309Lys mutation in the coagulation factor XII (F12) gene. The
aim of this study was to examine elements of the kallikrein–kinin system ('contact system')
and the downstream-linked coagulation, complement and fibrinolytic systems in the plasma
of six patients with HAE caused by the Thr309Lys mutation and healthy probands. Blood
samples were taken from participants during the symptom-free interval between attacks …