Genetics of hereditary angioedema

作者：Csep Katalin^*; Moldovan Dumitru

来源：Revista Romana de Medicina de Laborator, 2010, 18(1): 7-13.

• hereditary
• angioedema genetics

Hereditary angioedema is a rare monogenic disorder caused by the mutation of the C1INH (C1 esterase inhibitor) gene with a consecutive quantitative or qualitative defect of the coded serpin that has a major role in preventing the unnecessary activation of the complement system. The deficiency of the activated Cl esterase inhibitor leads to episodic localized subcutaneous or potentially lethal submucosal edema. This autosomal dominantly inherited disorder is characterized by genetic heterogeneity, frequent de nova mutations, incomplete penetrance and other less common genetic mechanisms with direct implications in the clinical management and may represent challenging situations for the clinician. Mutation analysis, due the allele heterogeneity and frequent de nova mutations, is done mainly for research purposes and needs a complex testing strategy. Although it is not necessary for confirming the diagnosis, it may provide important information to our general understanding of the disease, optimal management of the affected families and development of novel therapeutic agents.

• 出版日期2010-3