Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of
the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in …

Abstract C1 inhibitor (C1Inh) deficiency is responsible for hereditary angioedema (C1‐INH‐
HAE) and caused by variants of the SERPING1/C1INH/C1NH gene. C1Inh is the major …

Contemporary genetic research has provided evidences that angioedema represents a
diverse family of disorders related to kinin metabolism, with a much greater genetic …

Hereditary angioedema with C1 Inhibitor deficiency (C1-INH-HAE) is caused by a
constellation of variants of the SERPING1 gene (n= 809; 1,494 pedigrees), accounting for …

The evolution in the knowledge of rare genetic diseases such as hereditary angioedema
(HAE) has increased at a parallel pace with the development of new molecular tools. The …

The plasma contact system contributes to thrombosis in experimental models. Even though
our standard blood coagulation tests are prolonged when plasma lacks contact factors, this …

Hereditary angioedema (HAE) was first described by Dinkelacker 1 and Quincke 2 in 1882
and a few years later by Osler 3 as recurrent angioedema with a positive family history. In …

Background Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare
condition with clinical features similar to those of HAE with C1-INH deficiency. Mutations in …

A biomarker is a defined characteristic measured as an indicator of normal, biologic,
pathogenic processes, or biological responses to an exposure or intervention. Diagnostic …

Angioedema, as a distinct disease entity, often becomes a clinical challenge for physicians,
because it may cause a life-threatening condition, whereas prompt and accurate laboratory …