Features of diagnostics and clinical approaches to case management of patients with hereditary angioedema without C1 esterase inhibitor deficiency. Analysis of the clinical case

This article describes the clinical, biochemical and genetic features of hereditary angioedema (HAE) with normal level and functional activity of C1 esterase inhibitor. The discussion includes pathogenesis, diagnostics and case management of patients with hereditary angioedema without C1 esterase inhibitor deficiency. The materials of few scientific sources about patients with HAE without C1 esterase inhibitor deficiency in stages and our own clinical case (the female patient of fertile age with a confirmed mutation associated with factor XII (Hageman) deficiency) was given. The article describes the current state of the issue of the algorithm of primary diagnostics and differential diagnostics of HAE without C1 esterase inhibitor deficiency based on international and Russian data. It has been suggested that the new understanding of pathogenesis and treatment of patients with HAE without C1 esterase inhibitor deficiency is encouraging and becoming accessible to the medical society.