RRML - Hereditary C1-inhibitor esterase deficiency: a rather well defined entity
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Dr. Adrian Man

   
 
Nr. 15(2)/2009
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Hereditary C1-inhibitor esterase deficiency: a rather well defined entity

Dumitru Moldovan, Eniko Mihaly, Florin-Dan Popescu, Géza–Attila Szöllösi, Minodora Dobreanu


Abstract:

Hereditary angioedema (HAE) is a rare disease, associated with quantitative or qualitative genetic deficiency of C1-esterase inhibitor (C1-INH) caused by different mutations within an abnormal C1-INH gene on chromosome 11. During attacks, endothelial cells in postcapillary venules contract, which allows fluid and plasma proteins to leak between them. Bradykinin, produced by HM kininogen by the unopposed enzyme kallikrein and factor XII, is important, as C1-INH is the major inhibitor of these proteases. Symptoms include recurrent skin swellings, abdominal and laryngeal attacks. Recurrent abdominal pain attacks have been reported to occur in majority of cases. Laryngeal edema is responsible for death in 20-30% of untreated cases. The disease has often been misinterpreted by clinicians. Symptoms of recurrent swellings and crampy abdominal pain lasting for days, with serum samples showing reduced C1-INH function or antigen, often below 20%, accompanied by low C4 values are hallmarks of HAE. A suggestive family history is obtained in most cases. Conversely, a laboratory test of C1-showing compatible values with HAE in only one single person should raise awareness of dealing with in vitro artifacts or acquired angioedema. In some cases, a full equipped complement laboratory is needed for a right diagnosis, but genetic tests are not compulsory. The aim of this review is to increase the awareness of HAE among colleagues, in order to refer these patients to a specialized center.

Keywords: hereditary angioedema,C1-inhibitor esterase concentration and function assay

 
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How to cite
Moldovan D, Mihaly E, Popescu FD, Szöllösi G, Dobreanu M. Hereditary C1-inhibitor esterase deficiency: a rather well defined entity. Rev Romana Med Lab. 2009;15(2):41-8