Over the last years, high attention is given to the hereditary angioedema (HAO). Practitioners can identify the disease by clinical manifestations and family history even before specific laboratory testing. More than 95% of HAO cases are associated with C-1inhibitor deficiency/dysfunction caused by a mutation inSERPING1gene. In 25% of patients without C1-inhibitor deficiency HAO is associated with heterozygous mutations in geneF12coding Hageman XII factor. In 20172018 years two more genes responsible for normal C1-inhibitor HAO were discovered: genesPLGandANGPT1. In clinical practice patients do not always meet typical HAO diagnosis criteria. Diagnostic difficulties appear when clinical picture is not confirmed by related genetic testing results, for example, mutations in genes not described earlier are detected. It should be noted that app. 25% of patients do not have any HAO family history, i.e. have so called de novo mutations. Normally HAO onset takes place within 2 first life decades. 40% of patients have disease progress before the age of 5, and 75% of patients before the age of 15 y.o. However, it can appear in elderly age, which means certain diagnostic difficulties. It is important to analyze thoroughly patients comorbidity and make differential diagnosis with a secondary angioedema.
Association of hereditary angioedema type 1 with developmental anomalies due to a large and unusual de novo pericentromeric rearrangement of chromosome 11 spanning the entire C1 inhibitor gene (SERPING1)