Clinical efficiency of the cleaved high-molecular-weight kininogen detection in the diagnosis of hereditary angioedema

Abstract

Hereditary angioedema (HAE) is an orphan genetically determined disorder with recurrent episodes of swelling in various localization. HAE is divided into two groups: HAE with C1-inhibitor deficiency and without C1-inhibitor deficiency. The main diagnostic tests are: meas urements of levels and function of C1-inhibitor, and levels of C4. These tests are not useful in all cases, for example, in HAE without C1-inhibitor deficiency. The detection of cleaved high-molecular-weight kininogen (cHK), which, even in remission, is expected to be elevated both in patients with HAE due to C1-inhibitor deficiency and in HAE with normal C1-inhibitor is a promising biomarker. The aim of this study was to determine the clinical efficiency of the cHK detection in the diagnosis of HAE. According to the results of the measurements of cHK, the patients were divided into two groups. Group №1 (100% of cHK): 27 patients, of which 19 in the study regions had variants associated with HAE, 8 didn’t have. Group №2 (not 100% of cHK): 13 patients, of which one patient had a variant associated with HAE, 12 didn’t have. The obtained data demonstrate acceptable results of using the measurement of cleaved high- molecular-weight kininogen in laboratory practice in the diagnosis of HAE.