Bradykinin measurement by liquid chromatography tandem mass spectrometry in subjects with hereditary angioedema enhanced by cold activation.

Background: Bradykinin (BK), a 9-amino acid peptide, is a key mediator responsible for angioedema attacks in hereditary angioedema due to C1INH deficiency (HAE-C1INH). Current BK assays lack clinical utility due to the instability of BK (half-life < 30 seconds) and low pg/mL baseline levels.

Objective: We sought to develop a novel method to overcome the issues in current protease inhibitor-based methods for measuring endogenous BK.

Identification of an elusive deletion in a family with hereditary angioedema type I utilizing soft clipping.

Background: Hereditary angioedema (HAE) is an autosomal dominant genetic disorder caused by mutations in the C1 esterase inhibitor gene, SERPING1, leading to overproduction of bradykinin and debilitating swelling attacks. Variants in the gene are typically detected in a clinical setting by DNA sequencing or multiplex ligation-dependent probe amplification (MLPA), with over 893 total variants identified. Approximately 5% of patients with C1-esterase inhibitor deficiencies do not have detectable pathogenic variants.

C1 Inhibitor Activity and Angioedema Attacks in Patients with Hereditary Angioedema.

Hereditary angioedema (HAE) is caused by deficiency or dysfunction in the C1 inhibitor (C1-INH) protein. C1-INH replacement therapy is used to treat patients with HAE to restore the missing or dysfunctional protein. In vitro studies showed that C1-INH inhibits prekallikrein activation and bradykinin formation in a dose-dependent manner when added to the plasma of patients with HAE.

Training patients for self-administration of a new subcutaneous C1-inhibitor concentrate for hereditary angioedema.

Aims: The aim of this study was to provide recommendations for training patients with hereditary angioedema, based on nursing clinical trial experience, to self-administer subcutaneous C1-INH (C1-INH[SC]) used as routine prophylaxis.

Background: A volume-reduced, subcutaneous C1-INH concentrate (C1-INH(SC); HAEGARDA®; CSL Behring) was recently FDA-approved for the routine prevention of hereditary angioedema attacks. Nurses will play an important role in patient training.

Patient satisfaction and experience with intravenously administered C1-inhibitor concentrates in the United States.

Background: Hereditary angioedema (HAE) is a rare genetic disorder with substantial morbidity and mortality. Despite expanded choices for effective acute treatment, prophylactic options are more limited. Intravenous C1 esterase inhibitor (C1-INH[IV]) is licensed and used to prevent HAE symptoms.