scholarly journals Idiopathic Angioedema: Current Challenges

2020 ◽  
Vol Volume 13 ◽  
pp. 137-144 ◽  
Author(s):  
Aude Belbézier ◽  
Alexis Bocquet ◽  
Laurence Bouillet
Keyword(s):  
Idiopathic Angioedema

High Molecular Weight Kininogen Cleavage in Idiopathic Angioedema

2015 ◽  
Vol 135 (2) ◽  
pp. AB198
Author(s):  
Giulia M. Azin ◽  
Chiara Suffritti ◽  
Maddalena A. Wu ◽  
Andrea Zanichelli ◽  
Lorena M. Maggioni ◽  
...  
Keyword(s):  
Molecular Weight ◽  
High Molecular Weight ◽  
High Molecular Weight Kininogen ◽  
Idiopathic Angioedema

scholarly journals High occurrence of antihistamine resistance in patients with recurrent idiopathic angioedema

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Zonne L. M. Hofman ◽  
Nikki van West ◽  
C. Erik Hack ◽  
André C. Knulst ◽  
Coen Maas ◽  
...  
Keyword(s):  
High Occurrence ◽  
Idiopathic Angioedema

Missense Mutations in the Proline-Rich Region of Coagulation Factor XII in Hereditary and Idiopathic Angioedema.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 1619-1619
Author(s):  
Georg Dewald ◽  
Konrad Bork
Keyword(s):  
Hereditary Angioedema ◽  
Coagulation Factor ◽  
Factor Xii ◽  
Missense Mutations ◽  
C1 Inhibitor ◽  
Rich Region ◽  
Female Patients ◽  
Exon 9 ◽  
Idiopathic Angioedema ◽  
Proline Rich Region

Abstract Hereditary angioedema (HAE) is characterized by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. The two classic HAE types (I and II) are caused by mutations in the complement C1 inhibitor gene, resulting in a functional deficiency of C1 inhibitor. Recently, a novel type of hereditary angioedema has been described, these patients showing normal C1 inhibitor concentration and activity in plasma (HAE with normal C1 inhibitor, HAE type III). With few exceptions, all reported patients have been women, and exposition to estrogens appears to be an important precipitating factor. Screening of twenty unrelated female patients with this new type of HAE for mutations in the coagulation factor XII gene revealed two different missense mutations, both located in exactly the same position within exon 9, namely in the second position of the codon (ACG) encoding Thr309 of the mature protein. Five patients showed a C→A transversion (1032C→A), predicting a threonine-to-lysine substitution (Thr309Lys); one additional patient showed a C→G transversion (1032C→G), resulting in a threonine-to-arginine substitution (Thr309Arg). Thus, in 6 of 20 unrelated patients the wild-type threonine residue is substituted by a basic amino acid residue. The mutations are located in the proline-rich region of factor XII which may play some role in the binding of factor XII to negatively charged surfaces, and, thus, may eventually influence mechanisms of contact activation. The predicted structural and functional impact of the mutations, their absence in healthy control individuals (n=145), and their co-segregation with the phenotype in five families with altogether 20 affected women provide strong support that they cause disease (Biochem. Biophys. Res. Commun.343: 1286–1289, 2006). We speculated if these mutations may also be present in singular angioedema cases, i.e., patients with no affected family members. We therefore studied 58 such patients with idiopathic recurrent angioedema (23 men, 35 women) by sequencing of exon 9 of the F12 gene. In two patients, both female, the 1032C→A (Thr309Lys) mutation was observed. Thus, this mutation may also play a role in a subgroup of patients with idiopathic angioedema, in particular in female patients. The known estrogen-dependent regulation of factor XII expression may well be seen in association with the disease manifestation mainly in women.

scholarly journals Clinical Characteristics of Idiopathic Angioedema

2017 ◽  
Vol 139 (2) ◽  
pp. AB235
Author(s):  
Daniel L. Rosenberg ◽  
Sameer K. Mathur ◽  
Ravi K. Viswanathan
Keyword(s):  
Clinical Characteristics ◽  
Idiopathic Angioedema

scholarly journals Angioedema: Clinical and Etiological Aspects

2007 ◽  
Vol 2007 ◽  
pp. 1-6 ◽  
Author(s):  
Kanokvalai Kulthanan ◽  
Sukhum Jiamton ◽  
Kanonrat Boochangkool ◽  
Kowit Jongjarearnprasert
Keyword(s):  
Standard Deviation ◽  
Mucous Membrane ◽  
Clinical Features ◽  
University Hospital ◽  
Skin Involvement ◽  
Drug Induced ◽  
Common Cause ◽  
The Common ◽  
Systemic Symptoms ◽  
Idiopathic Angioedema

Angioedema is an abrupt swelling of the skin, mucous membrane, or both including respiratory and gastrointestinal tracts. This study aimed to report an experience of angioedema in a university hospital with respect to etiologies, clinical features, treatment, and outcome. One hundred and five patients were enrolled. About half had angioedema without urticaria. The common sites of involvement were periorbital area and lips. Forty five patients (49%) had systemic symptoms. The most common cause of angioedema was allergic angioedema. Nonsteroidal anti-inflammatory drug-induced angioedema and idiopathic angioedema were detected in 20% and 18%, respectively. Among patients with allergic angioedema, 41.7% were caused by food, 39.6% by drugs. Thirty seven patients (39%) had recurrent attacks of angioedema. Mean standard deviation (SD) number of attacks in patients with recurrent angioedema was 3.9 (2.7) (ranging from 2 to 10 times). Patients who had older age and multiple sites of skin involvement had tendency to have systemic symptoms.

Idiopathic Angioedema

2010 ◽  
pp. 59-72
Author(s):  
Cristina J. Ramos-Romey ◽  
Timothy J. Craig
Keyword(s):  
Idiopathic Angioedema
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