Search results for "ANGIOEDEMA"

Characterization of a partial exon 9/intron 9 deletion in the coagulation factor XII gene (F12) detected in two Turkish families with hereditary angi…

2014

Novel SERPING1 mutation causing Hereditary Angioedema in a Brazilian family

2009

Health-Related Quality Of Life (HRQoL) In Adult Patients With Hereditary Angioedema Due To C1 Inhibitor Deficiency (HAE-C1-INH) Assessed By SF-36v2

2014

IHAE-Qol: Specific Health-Related Quality Of Life (HRQoL) Questionnaire In Hereditary Angioedema Due To C1 Inhibitor Deficiency (HAE-C1INH)

2014

Functional C1-inhibitor diagnostics in hereditary angioedema: Assay evaluation and recommendations

2008

Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent episodes of potentially life-threatening angioedema. The most widespread underlying genetic deficiency is a heterozygous deficiency of the serine protease inhibitor Cl esterase inhibitor (C1-Inh). In addition to low C4 levels, the most important laboratory parameter for correct diagnosis of HAE or angioedema due to acquired C1-Inh deficiency is reduced C1-Inh function (fC1-Inh). No direct recommendations about the assays for fC1-Inh or sample handling conditions are available, although this would prove especially useful when a laboratory first starts to offer assays on fC1-Inh for HAE diagnosis. In the p…

Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N‐terminal cleavage site of bradykinin

2019

The Expanding Spectrum of Mutations in Hereditary Angioedema.

2021

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 deficiency of C1 inhibitor (C1-INH) has been recognized as the main cause of HAE (HAE-C1-INH) since the 1960s, but the discovery of the wide spectrum of mutations affecting the C1-INH gene (SERPING1) was possible only from the late 1980s, when Sanger sequencing became available and more accessible worldwide. Nevertheless, the involvement of other genes in HAE was discovered only in 2006 with the description of mutations in the F12 gene in patients with HAE and normal C1-INH. In the last 3 years, advanced next-generation…

Clinical studies of sudden upper airway obstruction in patients with hereditary angioedema due to C1 esterase inhibitor deficiency.

2003

Background Hereditary angioedema due to C1 esterase inhibitor deficiency is clinically characterized by recurrent and self-limiting skin, intestinal, and laryngeal edema. Asphyxiation by laryngeal edema is the main cause of death among patients who die of hereditary angioedema. This study describes the age at which laryngeal edema first occurs, the time between onset and full development, and the effectiveness of therapy and prophylaxis. Methods Information on 123 patients with hereditary angioedema was obtained from medical histories and reports by the general practitioners, emergency physicians, and hospitals involved. Results Sixty-one patients (49.6%) experienced a total of 596 laryngea…

Risk of laryngeal edema and facial swellings after tooth extraction in patients with hereditary angioedema with and without prophylaxis with C1 inhib…

2010

Objective Tooth extractions may trigger clinical symptoms of hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH). The aim of this study was to determine how many tooth extractions were followed by symptoms of HAE-C1-INH in patients with and without preoperative short-term prophylaxis with C1 inhibitor concentrate. Study design Tooth extractions and clinical symptoms of HAE-C1-INH were determined from clinical record files of 171 patients with HAE-C1-INH. Results Facial swelling or potentially life-threatening laryngeal edema, or both, occurred in 124/577 tooth extractions (21.5%) without prophylaxis. Similar symptoms occurred in a fewer proportion of patients undergoing extrac…

Recurrent angioedema and the threat of asphyxiation.

2009

Angioedema (also known as Quincke disease) is the name given to edema lasting 1–7 days that recurs at irregular intervals. Target organs are the skin, tongue, glottis and larynx, gastrointestinal tract, and sometimes other soft organs. The clinical symptom referred to as angioedema forms part of a variety of disease entities (Box 1, Figure 1). In Germany, according to the present author’s estimate, several thousand patients suffer from one of the forms of recurrent angioedema. Cases of sudden asphyxiation are rare, but do occur every now and again (1). This review aims to draw attention to the various clinical features of recurrent angioedema and the practical steps for dealing with it, and…