Immunological and genetic studies on hereditary angioedema.

Ca. eighty patients with hereditary angioedema due to C1-inhibitor deficiency were diagnosed and treated in Poland during last the 15 yrs, mainly in centers from Warsaw, Cracow and Bydgoszcz. The detailed description concerns 17 patients, 14 females (82%) and 3 males (18%). Important diagnostic points, response to treatment, and critical serum values of C1-inhibitor were evaluated. In the experimental part, we have established fibroblasts cell lines from 5 patients with type I HAE, with characteristic profound deficits of C1-INH (antigenic and functional) and C4. Fibroblasts from all the patients synthesized only ca. 20% of the normal values of C1-INH. We have confirmed the data from other authors that C1-INH synthesis can be substantially increased (11 to 20-fold) by IFN-gamma at a pretranslational level.