Search results for "C1-inhibitor"

Prevention of Hereditary Angioedema Attacks with a Subcutaneous C1 Inhibitor

2017

Prevenció; Atac d'angioedema; Inhibidor C1 Prevención; Ataque de angioedema; Inhibidor C1 Prevention; Angioedema attack; C1 inhibitor BACKGROUND: Hereditary angioedema is a disabling, potentially fatal condition caused by deficiency (type I) or dysfunction (type II) of the C1 inhibitor protein. In a phase 2 trial, the use of CSL830, a nanofiltered C1 inhibitor preparation that is suitable for subcutaneous injection, resulted in functional levels of C1 inhibitor activity that would be expected to provide effective prophylaxis of attacks. METHODS: We conducted an international, prospective, multicenter, randomized, double-blind, placebo-controlled, dose-ranging, phase 3 trial to evaluate the …

The international WAO/EAACI guideline for the management of hereditary angioedema – the 2017 revision and update

2018

Hereditary Angioedema (HAE) is a rare and disabling disease. Early diagnosis and appropriate therapy are essential. This update and revision of the global guideline for HAE provides up-to-date consensus recommendations for the management of HAE. In the development of this update and revision of the guideline, an international expert panel reviewed the existing evidence and developed 20 recommendations that were discussed, finalized and consented during the guideline consensus conference in June 2016 in Vienna. The final version of this update and revision of the guideline incorporates the contributions of a board of expert reviewers and the endorsing societies. The goal of this guideline up…

Hereditary Angioedema with Normal C1 Inhibitor Activity Including Hereditary Angioedema with Coagulation Factor XII Gene Mutations

2006

Recurrent angioedema of the skin is a commonly diagnosed clinical symptom that can be found in various clinical entities [1,2]. Some types of angioedema of the skin are associated with episodes of upper airway obstruction that may be life threatening. Death by asphyxiation from laryngeal edema is well known in hereditary angioedema (HAE) due to C1 inhibitor deficiency [3,4] and in recurrent angioedema induced by angiotensinconverting enzyme (ACE) inhibitors [5–9]. Therefore, it is important to determine the exact type of angioedema in each patient. In many patients angioedema is associated with urticaria. If relapsing urticaria occurs simultaneously or alternately with angioedema, both cond…

Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.

2006

Hereditary angioedema is characterized by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. The two classic types are both caused by mutations within the complement C1 inhibitor gene. A recently described new type does not show a deficiency of C1 inhibitor and affects almost exclusively women. We screened twenty unrelated index patients with this new type of hereditary angioedema for mutations in the coagulation factor XII gene. Two different missense mutations were identified in exactly the same position within exon 9 of the F12 gene. 'Mutation 1' (1032C-->A), encountered in five patients, predicts a threonine-to-lysine substitution…

Hereditary Angioedema with Normal C1 Inhibitor

2013

Until recently it was assumed that hereditary angioedema was a disease that results exclusively from a genetic deficiency of the C1 inhibitor. In 2000, families with hereditary angioedema, normal C1 inhibitor activity, and protein in plasma were described. Since then, numerous patients and families with that condition have been reported. Most of the patients were women. In many of the affected women, oral contraceptives, hormone replacement therapy containing estrogens, and pregnancies triggered the clinical symptoms. In some families mutations in the coagulation factor XII (Hageman factor) gene were detected.

Acquired C1 inhibitor (C1-INH) deficiency type II. Replacement therapy with C1-INH and analysis of patients' C1-INH and anti-C1-INH autoantibodies

1989

Abstract The response of two patients with autoantibody-mediated C1-inhibitor (C1-INH) deficiency to replacement therapy with C1-INH was studied over a period of 3 d. In patient 1 an acute attack of angioedema was successfully managed by infusion of 1,000 U of C1-INH concentrate. C1-INH function returned to normal levels within 30 min, while CH50 and C4 peaked after 6-7 h and C1 hemolytic activity reached 50-60% of normal after 3 d. Immediately after the injection an increase in C1-INH-anti-C1-INH complexes was observed. Based on NH2-terminal sequence analysis of the patients' Mr 96,000 C1-INH, it is concluded that this fragment is generated after cleavage of C1-INH in its active site by on…

Definitive Link of Mutation c.351delC and Development of Hereditary Angioedema in a Large Brazilian Family

2011

S U N D A Y 381 Definitive Link of Mutation c.351delC and Development of Hereditary Angioedema in a Large Brazilian Family M. F. Ferraro, A. S. Moreno, E. Castelli, A. P. Lange, E. A. Donadi, K. Bork, W. Sarti, L. K. Arruda; School of Medicine of Ribeirao Preto, Ribeirao Preto, BRAZIL, Johannes-Gutenberg University, Mainz, GERMANY. RATIONALE:We have previously described the identification of a novel SERPING1 mutation (c.351delC) in members of a large Brazilian family with Hereditary Angioedema (HAE). In the present study, we have aimed to verify the association of this mutation with the development of HAE in this family. METHODS: Family pedigree was constructed with 275 individuals distribu…

Pathogenesis of Hereditary Angioedema with Normal C1 Inhibitor: Evidence for Abnormalities in Plasminogen Activator Inhibitors

2015

Genetic Analysis As a Practical Tool to Diagnose Hereditary Angioedema with Normal C1 Inhibitor: A Case Report

2015

The Complement System: Activation and Control

1985

One of the hallmarks of immunology has been analysis and characterization of the C system in biological fluids. It is composed of 11 proteins of the “classical” pathway:1 C1q, C1r, C1s, C4, C2, C3, C5, C6, C7, C8, and C9. There are three proteins of the “alternative” pathway (IUIS-WHO Nomenclature Committee 1981) B, D, and P. Finally, there are four control proteins: C1 inhibitor (Cl¯ INH) and C4b binding protein (C4b-bp) for the classical pathway, I (C3b inactivator or C3b INA) and H (β1 or C3b INA accelerator) for the alternative pathway, and anaphylatoxin inactivator. Due to the dramatic advances in protein chemistry, these 19 distinct serum proteins have been highly purified and charact…