Search results for "Angioedema"

Hereditary angioedema with a mutation in the plasminogen gene

2017

Background Hereditary angioedema (HAE) with normal C1-INH (HAEnCI) may be linked to specific mutations in the coagulation factor 12 (FXII) gene (HAE-FXII) or functional mutations in other genes that are still unknown. We sought to identify and characterize a hitherto unknown type of HAE with normal C1-INH and without mutation in the F12 gene. Methods The study comprised analysis of whole-exome sequencing, Sanger sequencing, and clinical data of patients. Results We detected a mutation in the plasminogen (PLG) gene in patients with HAEnCI. The mutation c.9886A>G was located in exon 9 leading to the missense mutation p.Lys330Glu (K330E) in the kringle 3 domain of the PLG protein. The mutation…

Fatal laryngeal attacks and mortality in hereditary angioedema due to C1-INH deficiency.

2012

Background Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH) is characterized by relapsing skin swellings, abdominal pain attacks, and, less frequently, potentially life-threatening laryngeal attacks. Objective This study determined the mortality of patients with and without the diagnosis of HAE-C1-INH and analyzed fatal laryngeal attacks. Methods A cohort of 728 patients from 182 families with HAE-C1-INH was evaluated for death cases by analyzing pedigrees. Detailed information on fatal laryngeal attacks in 36 patients was obtained by questioning relatives and treating physicians. Results Of the 214 patients who had died, 70 asphyxiated during a laryngeal attack. Mortality …

Upregulation of cytokines and IL-17 in patients with hereditary angioedema

2013

Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes

2019

BACKGROUND Hereditary angioedema (HAE) is a group of genetic diseases characterized by recurrent, painful and potentially lethal tissue swelling. The most common form results from mutations in the SERPING1 gene, leading to reduced function of complement 1 inhibitor (C1-INH). Rarer forms with normal C1-INH may arise from mutations in the coagulation factor F12 gene, but mostly the genetic background is unknown. Recently, a novel HAE mutation in the plasminogen (PLG) gene was shown. PATIENTS AND METHODS We analyzed the various clinical manifestations of HAE in 14 related patients using clinical data, biochemical analysis for C1-INH and C4 as well as gene sequencing. RESULTS Patients' symptoms…

High-Concentration Liquid Prednisolone Formula: Filling a Therapeutic Niche in Severe Acute Attacks of Urticaria and Angioedema.

2015

<b><i>Background/Aims:</i></b> According to current guidelines, the emergency kit for patients with severe urticaria and/or angioedema should include a corticosteroid with a prednisolone-equivalent of 50-100 mg. Since severe dysphagia may occur in anaphylaxis, liquid corticosteroids are advantageous. Presently, only liquid preparations with less than 100 mg prednisolone equivalent are available worldwide. <b><i>Methods:</i></b> We prepared a highly concentrated liquid prednisolone formula for oral administration (1 or 5 mg prednisolone per ml). We observed efficacy and safety of 100 mg or >250 mg liquid oral prednisolone in comparison to in…

Treatment of skin swellings with C1-inhibitor concentrate in patients with hereditary angio-oedema.

2008

Background:  Skin swellings are the most frequent symptoms in hereditary angio-oedema (HAE) arising out of C1-inhibitor (C1-INH) deficiency. They may be painful and impact daily activities of patients. Detailed clinical data concerning the treatment of skin swellings by C1-INH concentrate have not been reported yet. Methods:  From 1976 through 2007, a total of 2104 skin-swelling attacks in 47 patients with HAE were treated with the C1-INH concentrate. Time to relief and duration of the swellings were documented during personal interviews using standardized questionnaires. The results were compared with 9046 untreated skin swellings in the same patients. Results:  The first clinical sign of …

A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor.

2011

In hereditary angioedema with normal C1-inhibitor two different missense mutations of codon p.Thr328* in the coagulation factor 12 gene have been reported in some families. In this study a novel factor 12 gene mutation, the deletion of 72 base pairs (bp) (c.971_1018+24del72*), was identified in a family of Turkish origin, in two sisters with recurrent skin swellings and abdominal pain attacks and in their symptom-free father. This deletion caused a loss of 48 bp of exon 9 (coding amino acids 324* to 340*) in addition to 24 bp of intron 9, including the authentic donor splice site of exon 9. The large deletion of 72 bp was located in the same F12 gene region as the missense mutations p.Thr32…

Treatment of acute edema attacks in hereditary angioedema with a bradykinin receptor-2 antagonist (Icatibant)

2006

Background In hereditary angioedema, bradykinin is assumed to be the most important mediator of edema formation. Objective To assess whether the selective bradykinin receptor-2 antagonist Icatibant is effective in acute edema attacks of hereditary angioedema. Methods In this uncontrolled pilot study, 15 patients with 20 attacks were treated with Icatibant. The attacks were analyzed by using a standardized and validated visual analog scale measurement and compared with historical data of untreated attacks. Plasma bradykinin concentration was measured before and 4 hours after intravenous Icatibant treatment. Results Symptom intensity decreased within 4 hours after administration of Icatibant;…

Modification of Peripheral Blood T-Lymphocyte Surface Receptors and Langerhans Cell Numbers in Hereditary Angioedema

1986

Hereditary angioedema (HAE) is a disease related to a complement disorder, namely a deficiency of C1 esterase inhibitor. Complement-split products are implicated in the regulation of the immune response, and we have compared some immunologic parameters between HAE and normal individuals. T-lymphocytes with receptors for IgG were increased in HAE, but no difference in T-cell suppressor activity for B-cells was detected. Furthermore, increased IgG receptor expression was not accompanied by any significant changes in the ratios of OKT4- and OKT8-defined antigens. Numbers of peripheral mononuclear cells (MNC) detected by alpha-naphthyl acetate esterase (ANAE) staining positivity were not signif…

Long-term outcomes with subcutaneous C1-inhibitor replacement therapy for prevention of hereditary angioedema attacks

2019

Background For the prevention of attacks of hereditary angioedema (HAE), the efficacy and safety of subcutaneous human C1-esterase inhibitor (C1-INH[SC]; HAEGARDA, CSL Behring) was established in the 16-week Clinical Study for Optimal Management of Preventing Angioedema with Low-Volume Subcutaneous C1-Inhibitor Replacement Therapy (COMPACT). Objective To assess the long-term safety, occurrence of angioedema attacks, and use of rescue medication with C1-INH(SC). Methods Open-label, randomized, parallel-arm extension of COMPACT across 11 countries. Patients with frequent angioedema attacks, either study treatment-naive or who had completed COMPACT, were randomly assigned (1:1) to 40 IU/kg or …