Hereditary angioedema (HAE) with normal C1-esterase inhibitor (C1-INH) is characterized by recurrent skin or mucosal angioedema attacks, lack of urticaria, and nonresponsiveness to antihistamines and corticosteroids, affecting mainly women with family history of angioedema and no C1-INH abnormalities.1–3 Missense mutations in the coagulation factor XII (FXII) gene (mainly Thr328Lys and Thr328Arg) have been associated with this type of HAE, causing an increase in FXII activity and leading to enhanced bradykinin production.
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Αλέξανδρος Γ. Σφακιανάκης
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5
Άγιος Νικόλαος Κρήτη 72100
2841026182
6032607174
Τρίτη 2 Μαΐου 2017
Angioedema attacks related to endometrial hyperplasia in a case of estrogen-dependent factor XII hereditary angioedema
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