Myoferline gene mutation associated with recurrent angioedema.

Hereditary angioedema is a rare genetically determined disease characterized by the recurrent of various localizations with no response to systemic glucocorticosteroids, antihistamines.
 In majority hereditary cases C1-inhibitor level or its functional activity decreased due mutation in SERPING1 gene. recent years, expansion genetic diagnostic recourses significantly changed our understanding pathogenesis without deficiency previously unknown mutations. Currently mutations six different genes have been identified as causing angioedema: factor XII (F12), plasminogen (PLG), angiopoietin 1 (ANGPT1), Kininogen (KNG1), Myoferlin (MYOF), and heparan sulfate (HS)-glucosamine 3-O-sulfotransferase 6 (HS3ST6). Moreover, last 3 them are referred separate phenotype ― intrinsic endothelial dysfunction.
 2020 series clinical patients MYOF gene an Italian family were published. This type exceptionally only female relatives from same described.
 article presents review actual international literature describes first case male patient myoferlin confirmed testing.