The paper presents a case of family oedema by shortage of C1-esterase inhibitor, characterized by appearance at an early age (8 months), participation in some attacks of nasal mucous membrane, with nasal obstruction and sinusal manifestations and also the abnormally long period, up to 9 days, of some localized oedemas. The crises were absent during pregnancy. The study of four generations of th...

The importance of laboratory testing in the diagnosis of hereditary angioedema (HAE) has increased with the advent of new treatment options in recent years. It has been 50 years since HAE was linked to a decrease of C1INH (the inhibitor of complement enzyme, C1 esterase), a link that provided for the first laboratory test available for this disorder. HAE is subdivided into types that can be di...

BACKGROUND Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks. OBJECTIVE We aimed to investigate the clinical and genetic features of a family with angioedema attacks. METHODS The medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes...

Hereditary angioedema (HAE) is a rare autosomal dominant disease that usually occurs in adolescence and early adulthood. It is characterized by recurrent non-pitting edema involving the skin and intestinal tract, especially the extremities and face. It is not associated with urticaria and pruritus. The cause is known to be the deficiency of C1 inhibitor. We herein report a 7-year-old girl with ...

The biologic activity of C1 esterase, activated forms of factor XII and kallikrein at sites of vascular inflammation may be regulated by C1 inhibitor (C1 INH) elaborated by endothelial cells. Therefore, we investigated whether human umbilical vein endothelial cells (HUVEC) in culture produce C1 INH. Passaged HUVEC contain 1.6 +/- 0.8 micrograms of C1 INH/10(8) cells (mean +/- S.D.; n = 7) which...

In order to clarify the role of complement as a mediator of cerebral infarct growth, we inhibited the classical complement activation pathway in a photochemical cortical vein occlusion model. Immediately after occlusion, rats were infused with either 0.9% saline (vehicle), or C1-esterase inhibitor (C1-INH) over 30 min. Regional cerebral blood flow (rCBF) decreased after occlusion, and was about...

Acquired angioedema (AAE) is a result of an acquired deficiency or inactivity of the C1 esterase inhibitor (C1-INH). There is a well-known link between AAE and lymphoplasmacytic disorders.A 65-year-old woman who was diagnosed with chronic lymphocytic leukemia (CLL), presented with recurrent episodes of angioedema. Although no association between the CLL and angioedema was initially recognized, ...

The goal of HAE prophylaxis is to minimize the number attacks and associated disease burden, including treatment with on-demand medications. Berotralstat an oral once-daily selective plasma kallikrein inhibitor that has been shown reduce attack frequency in a Phase 3 study (NCT03485911). This analysis evaluates reduction medication patients prior prophylaxis. A double-blind, placebo-controlled ...