Hereditary angioedema with normal C1 inhibitor function: Consensus of an international expert panel

Zuraw, Bruce L.; Bork, Konrad; Binkley, Karen; Banerji, Aleena; Christiansen, Sandra C.; Castaldo, Anthony J.; Kaplan, Allen P.; Riedl, Marc A.; Kirkpatrick, C.J.; Magerl, Markus; Drouet, Christian; Cicardi, Marco

doi:10.2500/aap.2012.33.3627

Cited by 146 publications

(118 citation statements)

References 79 publications

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“…These patients often respond only poorly to high-dose anti-histamine therapies, but are sensitive to treatments more specific of BK-mediated AO (BK-AO), such as tranexamic acid or icatibant [8,18,19,20,21]. This is in line with the concept of ‘idiopathic' AO cases, these being often assimilated to histamine-mediated AO and treated as such [18].…”

Section: Introductionsupporting

confidence: 52%

“…These factors may determine increased BK production and/or decreased BK catabolism in a synergistic fashion, and/or interact with kinin receptors or with drugs targeting the kinin metabolism. The family histories of some cases support still unidentified genetic abnormalities that are expected to increase the susceptibility to AO-BK [8,21,33]. In this respect, changes in BK receptors or uninvestigated kininases (e.g.…”

Section: Discussionmentioning

confidence: 99%

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Distinct Conditions Support a Novel Classification for Bradykinin-Mediated Angio-Oedema

Dessart

Defendi²,

Humeau³

et al. 2015

Dermatology

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Background: Angio-oedema (AO) can be attributable to bradykinin (BK) accumulation, as is the case for prototypical hereditary AO (HAO) due to C1 inhibitor (C1-INH) deficiency. However, our clinical experience in a reference centre has shown that some patients display a clinical history suggestive of HAO, but exhibit normal C1-INH function, have no mutation in the causative genes associated with HAO (SERPING1, F12), and report no intake of drugs known to promote AO. Objective: We sought to determine the frequency and distribution of different AO subtypes suspected to be BK-mediated AO (BK-AO) and defined by clinical, history and biological criteria (enzyme activities implicated in BK formation and catabolism). Methods: The files of all patients referred to our centre for suspected BK-AO were retrospectively analysed. Results: The distribution of patients (n = 162) was 16 and 4% with a hereditary deficiency of C1-INH or a gain of factor XII function, respectively, 29% with iatrogenic BK-AO, 21% with non-iatrogenic defective kininase activity and 30% with idiopathic increased kinin formation. Conclusion: BK-AO may be caused by multiple inherited or acquired factors triggering BK accumulation. Therefore, we propose a novel typology for BK-AO based on the imbalance of production/catabolism of BK.

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Section: Introductionsupporting

confidence: 52%

Section: Discussionmentioning

confidence: 99%

Distinct Conditions Support a Novel Classification for Bradykinin-Mediated Angio-Oedema

Dessart

Defendi²,

Humeau³

et al. 2015

Dermatology

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“…Exposure to estrogens, either during pregnancy or from oral contraceptives, has been shown to exacerbate the severity of attacks in many FXII-HAE/U-HAE patients [4,9]. Furthermore, a subset of FXII-HAE/U-HAE patients has been shown to be estrogen-dependent, i.e.…”

Section: Challenges Associated With Diagnosing Alternative Forms Of Amentioning

confidence: 99%

“…Although FXII-HAE/U-HAE has been associated with mutations in the FXII gene; mutations are only found in a small subset of patients [4] and symptoms in patients with or without FXII mutations are similar [11,13]. During the meeting it was reported that only 10-25% of diagnosed French patients have a FXII mutation.…”

Section: Challenges Associated With Diagnosing Alternative Forms Of Amentioning

confidence: 99%

“…FXII-HAE/U-HAE can be characterized by recurrent angioedema attacks without wheals, a prolonged duration of attacks, an older age of symptom onset, with the mean age of first attack 26.8 ± 14.9 years, and a higher percentage of facial attacks [2,4]. Furthermore, key differentiating factors for FXII-HAE/U-HAE are that it can be triggered by estrogens [4,5] and has been associated with mutations in the FXII gene [6,7,8]. …”

Section: Challenges Associated With Diagnosing Alternative Forms Of Amentioning

confidence: 99%

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Diagnosis and Treatment of Bradykinin-Mediated Angioedema: Outcomes from an Angioedema Expert Consensus Meeting

Craig

Bernstein

Farkas

et al. 2014

Int Arch Allergy Immunol

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Several types of angioedema exist beyond hereditary angioedema (HAE) types I/II; however, the diagnostic and treatment needs of these conditions are not well understood. Noticeably, there are no licensed treatments available for other forms of angioedema beyond HAE types I/II, and similarly they are unresponsive to conventional antihistamine/glucocorticoid treatment. A group of angioedema experts met in Budapest in May 2013 to discuss such issues, presenting their experience, reviewing available literature and identifying unmet diagnostic and treatment needs in three different angioedema types: HAE with normal C1-inhibitor (C1-INH; previously referred to as type III HAE); nonallergic angiotensin-converting enzyme inhibitor (ACEI)-induced angioedema (ACEI-AAE), and acquired angioedema due to C1-INH deficiency (C1-INH-AAE). The group identified unmet diagnostic and treatment needs in HAE-nC1-INH, C1-INH-AAE and ACEI-AAE, explored remedies and made recommendations on how to diagnose and treat these forms of angioedema. The group discussed the difficulties associated with using diagnostic markers, such as the level and function of C1-INH, C1q and C4 to reliably diagnose the angioedema type, and considered the use of genetic testing to identify mutations in FXII or XPNPEP2 that have been associated with HAE-nC1-INH and ACEI-AAE, respectively. Due to the lack of approved treatments for HAE-nC1-INH, ACEI-AAE and C1-INH-AAE, the group presented several case studies in which therapies approved for treatment of HAE types I/II, such as icatibant, ecallantide and pasteurized, nanofiltered C1-INH, were successful. It was uniformly agreed that further studies are needed to improve the diagnosis and treatment of angioedema other than HAE types I/II. i 2014 S. Karger AG, Basel

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Hereditary angioedema with normal C1 inhibitor in a French cohort: Clinical characteristics and response to treatment with icatibant

Bouillet

Boccon‐Gibod

Launay

et al. 2017

Immunity Inflam & Disease

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IntroductionThe clinical characteristics and icatibant‐treatment outcomes of patients with hereditary angioedema with normal C1 inhibitor (HAE‐nC1 INH) are limited.MethodsWe retrospectively analyzed data from French HAE patients enrolled in the Icatibant Outcome Survey registry (from July 2009 to September 2013) to compare disease characteristics and the effectiveness and safety of acute icatibant‐treated angioedema attacks in patients with HAE‐nC1 INH, HAE with C1 INH deficiency (type I), or dysfunction (type II).ResultsOne center in Grenoble contributed 22 patients with HAE‐nC1 INH and a family history of HAE while 15 centers across France contributed 153 patients with HAE type I and seven patients with HAE type II. Patients with HAE‐nC1 INH compared to HAE type I, respectively, were more likely to be female (88.1% vs. 63.4%), older at median age of disease onset (21 years vs. 15 years), and have a greater rate of abdominal (80% vs. 61%) and laryngeal (23% vs. 14%) attacks. Icatibant was effective in both groups though the median time to resolution of attack was significantly longer in the HAE‐nC1 INH group (20.0 h, 37 attacks) versus the HAE type I group (14.0 h, 67 attacks). Icatibant was self‐administered for 96.1% of attacks in patients with HAE‐nC1 INH and 75.8% in patients with HAE type I. No serious adverse side effects related to icatibant were reported.ConclusionsThese data help further define the disease characteristics of HAE‐nC1 INH in the French population and extend the limited data reporting the safe and effective use of icatibant in acute treatment of angioedema in French patients diagnosed with HAE‐nC1 INH.

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Hereditary angioedema with normal C1 inhibitor function: Consensus of an international expert panel

Cited by 146 publications

References 79 publications

Distinct Conditions Support a Novel Classification for Bradykinin-Mediated Angio-Oedema

Distinct Conditions Support a Novel Classification for Bradykinin-Mediated Angio-Oedema

Diagnosis and Treatment of Bradykinin-Mediated Angioedema: Outcomes from an Angioedema Expert Consensus Meeting

Hereditary angioedema with normal C1 inhibitor in a French cohort: Clinical characteristics and response to treatment with icatibant

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