Inmaculada Martinez-Saguer, Henriette Farkas
Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare genetic disease that causes recurrent swelling attacks that may affect various body tissues. Angioedematous attacks can be fatal in the case of upper airway edema and are often preceded by prodromal symptoms like erythema marginatum. Initial symptoms usually occur in the first decade of life. We report on manifestation of profound and recurrent erythema marginatum in 2 newborns. In both cases, prodromal symptoms could help determine the diagnosis of C1-INH-HAE such that, at a later time, angioedematous attacks could be treated promptly and effectively...
February 2016: Pediatrics
Jenny Björkqvist, Steven de Maat, Urs Lewandrowski, Antonio Di Gennaro, Chris Oschatz, Kai Schönig, Markus M Nöthen, Christian Drouet, Hal Braley, Marc W Nolte, Albert Sickmann, Con Panousis, Coen Maas, Thomas Renné
Hereditary angioedema type III (HAEIII) is a rare inherited swelling disorder that is associated with point mutations in the gene encoding the plasma protease factor XII (FXII). Here, we demonstrate that HAEIII-associated mutant FXII, derived either from HAEIII patients or recombinantly produced, is defective in mucin-type Thr309-linked glycosylation. Loss of glycosylation led to increased contact-mediated autoactivation of zymogen FXII, resulting in excessive activation of the bradykinin-forming kallikrein-kinin pathway...
August 3, 2015: Journal of Clinical Investigation
Nicola Bonner, Linda Abetz-Webb, Lydie Renault, Teresa Caballero, Hilary Longhurst, Marcus Maurer, Sandra Christiansen, Bruce Zuraw
BACKGROUND: Hereditary Angioedema (HAE), a rare genetic disease, manifests as intermittent, painful attacks of angioedema. Attacks vary in frequency and severity and include skin, abdominal and life-threatening laryngeal swellings. This study aimed to develop a patient reported outcome (PRO) tool for the assessment of HAE attacks, including their management and impact on patients' lives, for use in clinical studies, or by physicians in general practice. METHODS: The results of open-ended face to face concept elicitation interviews with HAE patients in Argentina (n = 10) and the US (n = 33) were used to develop the first draft questionnaire of the HAE patient reported outcomes questionnaire (HAE PRO)...
July 1, 2015: Health and Quality of Life Outcomes
Mauro Cancian
PURPOSE OF REVIEW: Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency (C1-INH-HAE) is a rare disease, with a reported prevalence of about 1 : 50 000. C1-INH-HAE causes disabling symptoms, which may be life-threatening if swelling affects upper airways. Diagnostic procedures are now well established and the role of bradykinin as the main mediator of plasma outflow eliciting angioedema formation has been clearly elucidated. RECENT FINDINGS: Increased understanding of the pathogenesis of C1-INH-HAE allowed in recent years the development of new drugs targeted to inhibit bradykinin synthesis (Ecallantide) or activity (Icatibant)...
August 2015: Current Opinion in Allergy and Clinical Immunology
B L Zuraw, M Cicardi, H J Longhurst, J A Bernstein, H H Li, M Magerl, I Martinez-Saguer, S M M Rehman, P Staubach, H Feuersenger, R Parasrampuria, J Sidhu, J Edelman, T Craig
BACKGROUND: Hereditary angioedema (HAE) due to C1 inhibitor deficiency manifests as recurrent swelling attacks that can be disabling and sometimes fatal. Long-term prophylaxis with twice-weekly intravenous injections of plasma-derived C1-inhibitor (pdC1-INH) has been established as an effective treatment. Subcutaneous (SC) administration of pdC1-INH has not been studied in patients with HAE. METHODS: This open-label, dose-ranging, crossover study (COMPACT Phase II) was conducted in 18 patients with type I or II HAE who received two of twice-weekly 1500, 3000, or 6000 IU SC doses of highly concentrated volume-reduced CSL830 for 4 weeks each...
October 2015: Allergy
K Bork, K Wulff, G Witzke, J Hardt
BACKGROUND: Hereditary angioedema with normal C1-INH may be linked to specific mutations in the coagulation factor 12 (FXII) gene (HAE-FXII) or mutations in genes that are still unknown (HAE-unknown). To assess the differences in transmission and inheritance, clinical features, and laboratory parameters between patients with HAE-FXII and HAE-unknown. METHODS: Sixty-nine patients with HAE-FXII from 23 unrelated families and 196 patients with HAE-unknown from 65 unrelated families were studied...
August 2015: Allergy
Alban Deroux, Isabelle Vilgrain, Chantal Dumestre-Pérard, Isabelle Boccon-Gibod, Laurence Bouillet
BACKGROUND: Bradykinin-mediated angioedema (AE) is a rare disease characterised by recurrent angioedema linked to acquired (e.g. angiotensin converting enzyme inhibitor induced AE) or hereditary disorders (e.g. AE type I or II). As the clinical picture can be misleading, diagnosis of this disease is sometimes difficult. A bradykinin-mediated AE attack may be a therapeutic emergency which requires access to effective, but expensive, treatments. Their prescription must therefore be justified...
July 2015: European Journal of Dermatology: EJD
Paola Triggianese, Maria Sole Chimenti, Elias Toubi, Eleonora Ballanti, Maria Domenica Guarino, Carlo Perricone, Roberto Perricone
Hereditary angioedema (HAE) is an autosomal dominant disease resulting from the deficiency of C1 inhibitor (C1-INH), a glycosylated serine protease inhibitor that plays a regulatory role in the complement system (CS), the contact system and the intrinsic coagulation cascade. HAE disease severity is highly variable and may be influenced by genetic polymorphisms as well as by other factors, such as gender hormone-mediated effects. In HAE, the potential inadequate clearance of immune-complexes (IC) in the presence of reduced levels of CS components and in turn an excess of IC in the tissues results in inflammatory damage and release of autoantigens that may trigger an autoimmune response...
August 2015: Autoimmunity Reviews
A Reshef, A Zanichelli, H Longhurst, A Relan, C E Hack
BACKGROUND: Recommended management of attacks of hereditary angioedema (HAE) due to C1 esterase inhibitor (C1-INH) deficiency (C1-INH-HAE) includes therapy with exogenous C1INH. Thrombotic/thromboembolic events (TEE) have been reported with plasma-derived C1INH, but so far none with recombinant human C1INH (rhC1INH). This phase III, randomized, placebo (saline)-controlled study evaluated the safety of rhC1INH 50 IU/kg for the treatment of acute attacks in 74 patients with C1-INH-HAE...
May 2015: Allergy
Zonne L M Hofman, Anurag Relan, C Erik Hack
Hereditary angioedema (HAE) patients experience recurrent local swelling in various parts of the body including painful swelling of the intestine and life-threatening laryngeal oedema. Most HAE literature is about attacks located in one anatomical site, though it is mentioned that HAE attacks may also involve multiple anatomical sites simultaneously. A detailed description of such multi-location attacks is currently lacking. This study investigated the occurrence, severity and clinical course of HAE attacks with multiple anatomical locations...
February 2016: Clinical Reviews in Allergy & Immunology
Timothy J Craig, Jonathan A Bernstein, Henriette Farkas, Laurence Bouillet, Isabelle Boccon-Gibod
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)...
2014: International Archives of Allergy and Immunology
K Joseph, S Bains, B G Tholanikunnel, A Bygum, A Aabom, C Koch, H Farkas, L Varga, B Ghebrehiwet, A P Kaplan
BACKGROUND: Hereditary angioedema types I and II are caused by a functional deficiency of C1 inhibitor (C1-INH), leading to overproduction of bradykinin. The current functional diagnostic assays employ inhibition of activated C1s; however, an alternative, more physiologic method is desirable. METHODS: ELISAs were developed using biotinylated activated factor XII (factor XIIa) or biotinylated kallikrein bound to avidin-coated plates. Incubation with plasma was followed by detection of bound C1-INH...
January 2015: Allergy
D Charignon, A Ghannam, F Defendi, D Ponard, N Monnier, M López Trascasa, D Launay, T Caballero, K Djenouhat, O Fain, S Cichon, L Martin, C Drouet
BACKGROUND: Hereditary angioedema (HAE) with normal C1 inhibitor (C1Inh) associated with the c.983C>A and c.983C>G mutations of the F12 gene (FXII-HAE) is a rare condition, and presents with highly variable clinical expression. On the basis of data gathered from a large carrier cohort, we assessed the modifiers affecting the clinical phenotype. METHODS: We analyzed clinical and biological data recorded from 118 mutation carriers (80 symptomatic and 38 asymptomatic), 58 noncarrier relatives from 40 families, and 200 healthy donors...
December 2014: Allergy
N Read, E Lim, M D Tarzi, P Hildick-Smith, S Burns, K J Fidler
Hereditary angioedema (HAE) is a rare disease characterized by episodes of potentially life-threatening angioedema. For affected children in the United Kingdom, there are relatively few data regarding disease prevalence, service organization and the humanistic burden of the disease. To improve knowledge in these areas, we surveyed major providers of care for children with HAE. A questionnaire was sent to major paediatric centres to determine patient numbers, symptoms, diagnostic difficulties, management and available services...
December 2014: Clinical and Experimental Immunology
Kate Waldon, Sophy Kathleen Barber, Richard James Spencer
BACKGROUND: Hereditary angiodema (HAE), also known as C1 esterase inhibitor deficiency, causes sufferers to experience episodic subcutaneous and submucosal oedema. These episodes can be triggered by dental treatment and manifest as life-threatening oedematous swelling in the head and neck region. CASE REPORT: This case report reviews an adolescent with hereditary angiodema whose malocclusion required orthodontic intervention. Due to her complex and unpredictable reaction to dental treatment, various options were explored before determining the appropriate care pathway for this patient...
May 2015: International Journal of Paediatric Dentistry
Dorottya Csuka, Lea Munthe-Fog, Estrid Hein, Zsuzsanna Zotter, Zoltán Prohászka, Henriette Farkas, Lilian Varga, Peter Garred
BACKGROUND: The activation of plasma enzyme systems is insufficiently controlled in hereditary angioedema due to the deficiency of C1-inhibitor (C1-INH) (HAE-C1-INH). Recently, it was suggested that the ficolin-lectin pathway (ficolin-LP) might play a more dominant role than the mannose-binding lectin-lectin pathway in the pathomechanism of HAE-C1-INH. OBJECTIVE: Because the role of the ficolin-LP during edematous attacks is still enigmatic, we analyzed its activity during such episodes...
December 2014: Journal of Allergy and Clinical Immunology
Konrad Bork
Hereditary angioedema (HAE) through C1 inhibitor deficiency is a rare but important disease. It is characterized by recurrent episodes of angioedema, which commonly affects the skin (in the form of swelling in the extremities, face and genitals) as well as the gastrointestinal tract (abdominal pain attacks). In approximately 1% of cases of angiodema-related swelling, there is obstruction of the upper airway, which is potentially life-threatening. Therefore, HAE due to C1 inhibitor deficiency may be associated with significant morbidity and mortality...
July 2014: Expert Opinion on Investigational Drugs
A Malbrán, M Riedl, B Ritchie, W B Smith, W Yang, A Banerji, J Hébert, G J Gleich, D Hurewitz, K W Jacobson, J A Bernstein, D A Khan, C H Kirkpatrick, D Resnick, H Li, D S Fernández Romero, W Lumry
Hereditary angioedema (HAE) is characterized by potentially life-threatening recurrent episodes of oedema. The open-label extension (OLE) phase of the For Angioedema Subcutaneous Treatment (FAST)-1 trial (NCT00097695) evaluated the efficacy and safety of repeated icatibant exposure in adults with multiple HAE attacks. Following completion of the randomized, controlled phase, patients could receive open-label icatibant (30 mg subcutaneously) for subsequent attacks. The primary end-point was time to onset of primary symptom relief, as assessed by visual analogue scale (VAS)...
August 2014: Clinical and Experimental Immunology
Neeti Bhardwaj, Timothy J Craig
Hereditary angioedema (HAE) is a rare autosomal dominant disorder characterized by recurrent attacks of self-limiting tissue swelling. The management of HAE has transformed dramatically with recently approved therapies in the United States. However, there is lack of awareness among physicians about these new modalities. The aim of this review is to update the practicing physician about various therapeutic options available for HAE patients. An exhaustive literature search of PubMed and OVID was performed to develop this article...
November 2014: Transfusion
M Cicardi, W Aberer, A Banerji, M Bas, J A Bernstein, K Bork, T Caballero, H Farkas, A Grumach, A P Kaplan, M A Riedl, M Triggiani, A Zanichelli, B Zuraw
Angioedema is defined as localized and self-limiting edema of the subcutaneous and submucosal tissue, due to a temporary increase in vascular permeability caused by the release of vasoactive mediator(s). When angioedema recurs without significant wheals, the patient should be diagnosed to have angioedema as a distinct disease. In the absence of accepted classification, different types of angioedema are not uniquely identified. For this reason, the European Academy of Allergy and Clinical Immunology gave its patronage to a consensus conference aimed at classifying angioedema...
May 2014: Allergy
2016-07-06 15:58:18
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