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Hereditary angioedema

Michihiro Hide, Atsushi Fukunaga, Junichi Maehara, Kazunori Eto, James Hao, Moshe Vardi, Yuji Nomoto
BACKGROUND: Hereditary angioedema (HAE) is characterized by paroxysmal edema of the skin, gastrointestinal mucosa, and upper respiratory tract. PURPOSE: This study investigated icatibant, a selective bradykinin B2 receptor antagonist, as treatment for Japanese patients with an acute HAE attack. METHODS: This was an open-label, single-arm, Phase 3 study of Japanese adults with HAE type I or II. Icatibant (30 mg) was administered (by a healthcare professional [HCP] or self-administered) as a subcutaneous injection in the abdomen...
2018: Arerugī, [Allergy]
Georg Dewald
Hereditary angioedema (HAE) is a genetically heterogeneous disease that is characterized by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. The two classic types, HAE types I and II, are both caused by mutations in the complement C1 inhibitor (SERPING1) gene resulting either in a quantitative or a qualitative deficiency of C1 inhibitor. In so-called HAE type III, in contrast, patients show normal C1 inhibitor measurements in plasma ('HAE with normal C1 inhibitor')...
March 25, 2018: Biochemical and Biophysical Research Communications
Vijay A Patel, Laila Siddique, Lauren Stahl, Michele M Carr
BACKGROUND: The objective of this work was to assess resident education regarding contemporary management of hereditary angioedema using a web-based survey. METHODS: An 11-item, multiple-choice, electronic questionnaire was sent to all 106 accredited otolaryngology training programs in November 2016. Questions focused on resident education, management principles, and formalized assessment. RESULTS: A total of 34 program directors responded, representing 32% of otolaryngology residences...
March 15, 2018: International Forum of Allergy & Rhinology
Vesna Grivčeva-Panovska, Mitja Košnik, Peter Korošec, Slađana Andrejević, Ljerka Karadža-Lapić, Matija Rijavec
OBJECTIVE: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare disease, characterized by swellings. We aimed to characterize on a clinical and molecular basis C1-INH-HAE patients in the Republic of Macedonia. RESULTS: All 15 patients from six unrelated families were diagnosed with C1-INH-HAE type I, with a mean age of symptom onset of 11 years and an average delay of diagnosis of 7 years. Patients reported on average 31 angioedema attacks/year, with a median clinical severity score (CSS) of 7...
March 7, 2018: Annals of Medicine
William Raymond Lumry
This review will discuss the cost burden of hereditary angioedema on patients, healthcare systems, and society. The impact of availability of and access to novel and specific therapies on morbidity, mortality, and the overall burden of disease will be explored along with potential changes in treatment paradigms to improve effectiveness and reduce cost of treatment. The prevalence of orphan diseases, legislative incentives to encourage development of orphan disease therapies and the impact of orphan disease treatment on healthcare payment systems will be discussed...
2018: Frontiers in Medicine
Nicolas Javaud, Olivier Fain, Isabelle Durand-Zaleski, David Launay, Laurence Bouillet, Anne Gompel, Alain Sobel, Maguy Woimant, Hasina Rabetrano, Tomislav Petrovic, Frederic Lapostolle, Isabelle Boccon-Gibod, Paul-Georges Reuter, Philippe Bertrand, Malha Mezaour, Brigitte Coppere, Bernard Floccard, Gisele Kanny, Elinor Baker, Ludovic Martin, Eric Vicaut, Frederic Adnet
STUDY OBJECTIVE: Hereditary angioedema is a rare disease associated with unpredictable, recurrent attacks of potentially life-threatening edema. Management of severe attacks is currently suboptimal because emergency medical teams are often unaware of new specific treatments. The objective of this trial is to test whether a dedicated national telephone care-management strategy would reduce resource use during severe hereditary angioedema attacks. METHODS: We conducted a cluster-randomized multicenter prospective trial of patients with a documented diagnosis of hereditary angioedema (type I, II or FXII hereditary angioedema)...
March 2, 2018: Annals of Emergency Medicine
(no author information available yet)
No abstract text is available yet for this article.
February 26, 2018: Medical Letter on Drugs and Therapeutics
Coen Maas, Thomas Renné
Combinations of proinflammatory and procoagulant reactions are the unifying principle for a variety of disorders affecting the cardiovascular system. The factor XII-driven-contact system starts coagulation and inflammatory mechanisms via the intrinsic pathway of coagulation and the bradykinin-producing kallikrein-kinin system, respectively. The biochemistry of the contact system in vitro is well understood, however its in vivo functions are just beginning to emerge. Challenging the concept of the coagulation balance, targeting factor XII or its activator polyphosphate provides protection from thromboembolic diseases without interfering with hemostasis...
February 26, 2018: Blood
Juliana F B Garcia, Priscila Takejima, Camila Lopes Veronez, Marcelo V Aun, Antonio A Motta, Jorge Kalil, João Bosco Pesquero, Pedro Giavina-Bianchi
No abstract text is available yet for this article.
February 10, 2018: Journal of Allergy and Clinical Immunology in Practice
Alvin H Schmaier
Plasma prekallikrein (PK) has a critical role in acute attacks of hereditary angioedema (HAE). Unlike C1 inhibitor, its levels fall during HAE attacks with resultant cleaved high-molecular-weight kininogen. Cleavage of high-molecular-weight kininogen liberates bradykinin, the major biologic peptide that promotes the edema. How prekallikrein initially becomes activated in acute attacks of HAE is not known. PK itself is negatively associated with cardiovascular disease. High prekallikrein is associated with accelerated vascular disease in diabetes and polymorphisms of prekallikrein that reduce high-molecular-weight kininogen binding are associated with protection from cardiovascular events...
2018: Frontiers in Medicine
Bruce L Zuraw
No abstract text is available yet for this article.
February 1, 2018: Journal of Allergy and Clinical Immunology
Maria Bova, Giulia De Feo, Roberta Parente, Tiziana De Pasquale, Carmela Gravante, Stefano Pucci, Eustachio Nettis, Massimo Triggiani
Recurrent angioedema (AE) without wheals is increasingly recognized as a clinical entity and a frequent cause of admission to the emergency room. The Hereditary Angioedema Working Group (HAWK) classification allowed the scientific community to go beyond the semantic confusion that dominated this topic for decades. This classification distinguishes hereditary and acquired forms of AE, either related or unrelated to C1 inhibitor deficiency. Recently, additional mechanisms have been involved in the AE pathogenesis, including the uncontrolled activation of factor XII, generation of vasoactive mediators that induce dysregulation of endothelial functions, and bidirectional interactions between mast cell-derived mediators and the plasma contact system...
2018: International Archives of Allergy and Immunology
William R Lumry, Timothy Craig, Bruce Zuraw, Hilary Longhurst, James Baker, H Henry Li, Jonathan A Bernstein, John Anderson, Marc A Riedl, Michael E Manning, Paul K Keith, Donald S Levy, Teresa Caballero, Aleena Banerji, Richard G Gower, Henriette Farkas, John-Philip Lawo, Ingo Pragst, Thomas Machnig, Douglas J Watson
BACKGROUND: Hereditary angioedema with C1-INH deficiency (C1-INH-HAE) impairs health-related quality of life (HRQoL). OBJECTIVE: To assess HRQoL outcomes in patients self-administering subcutaneous C1-INH (C1-INH[SC]; HAEGARDA®) for routine prevention of HAE attacks. METHODS: Post-hoc analysis of data from a placebo-controlled, crossover phase III study (COMPACT). Ninety patients with C1-INH-HAE were randomized to 1 of 4 treatment sequences: C1-INH(SC) 40 IU/kg or 60 IU/kg twice-weekly for 16 weeks, preceded or followed by 16 weeks of twice-weekly placebo injections...
January 29, 2018: Journal of Allergy and Clinical Immunology in Practice
Nathan M Johnson, Mariana A Phillips
Hereditary angioedema is characterized by severe, episodic edema of the subcutaneous and mucosal tissue. The disease carries significant morbidity and mortality due to involvement of the gastrointestinal tract and upper airway. Recent advances in the treatment of hereditary angioedema include new techniques used to isolate and purify human-derived C1 inhibitor, the production of a recombinant form of C1 inhibitor, and the development of drugs that target the kallikrein-kinin pathway. This paper reviews the mechanisms, efficacy, and adverse reactions associated with these medications...
January 2018: Skin Therapy Letter
Sonia Caccia, Chiara Suffritti, Thomas Carzaniga, Romina Berardelli, Silvia Berra, Vincenzo Martorana, Annamaria Fra, Christian Drouet, Marco Cicardi
C1-inhibitor is a serine protease inhibitor (serpin) controlling complement and contact system activation. Gene mutations result in reduced C1-inhibitor functional plasma level causing hereditary angioedema, a life-threatening disorder. Despite a stable defect, the clinical expression of hereditary angioedema is unpredictable, and the molecular mechanism underlying this variability remains undisclosed. Here we report functional and structural studies on the Arg378Cys C1-inhibitor mutant found in a patient presenting reduced C1-inhibitor levels, episodically undergoing normalization...
January 17, 2018: Scientific Reports
Yann Coattrenec, Thomas Harr, Carlo Chizzolini, Peter Jandus
Hereditary angioedema (HA) is a disabling and potentially fatal condition. The management of HA includes treatment of acute attacks, short-term prophylaxis to prevent an attack, and long-term prophylaxis to minimize the frequency and severity of recurrent attacks. In this article, we will present new therapeutic alternatives for long term prophylaxis. Glucocorticoids (GC) usage leads to a number of severe side-effects. In giant cell arteritis, the use of tocilizumab in conjunction with low doses of GC reduces the number of relapses...
January 10, 2018: Revue Médicale Suisse
Marcus Maurer, Markus Magerl, Ignacio Ansotegui, Emel Aygören Pürsün, Stephen Betschel, Konrad Bork, Tom Bowen, Henrik Balle Boysen, Henriette Farkas, Anete Grumach, Michihiro Hide, Constance Katelaris, Richard Lockey, Hilary Longhurst, William Lumry, Inmaculada Martinez-Saguer, Dumitru Moldovan, Alexander Nast, Ruby Pawankar, Paul Potter, Marc Riedl, Bruce Ritchie, Lanny Rosenwasser, Mario Sánchez-Borges, Yuxiang Zhi, Bruce Zuraw, Timothy Craig
Hereditary angioedema (HAE) is a rare disease and a serious health problem, globally and for affected patients and their families. The pathophysiological background is primarily a vascular reaction to an overshooting local production of bradykinin. Evidence-based recommendations are needed to inform and guide clinical decision makers. This is the first revision and update of the global guideline for the diagnosis and management of HAE[5]. It was developed by the World Allergy Organization (WAO) in collaboration with the European Academy of Allergy and Clinical Immunology (EAACI)...
January 10, 2018: Allergy
Ying Zhang, Michael A Tortorici, Dipti Pawaskar, Ingo Pragst, Thomas Machnig, Matthew Hutmacher, Bruce Zuraw, Marco Cicardi, Timothy Craig, Hilary Longhurst, Jagdev Sidhu
Subcutaneous C1-inhibitor (HAEGARDA, CSL Behring), is a US Food and Drug Administration (FDA)-approved, highly concentrated formulation of a plasma-derived C1-esterase inhibitor (C1-INH), which, in the phase III Clinical Studies for Optimal Management in Preventing Angioedema with Low-Volume Subcutaneous C1-inhibitor Replacement Therapy (COMPACT) trial, reduced the incidence of hereditary angioedema (HAE) attacks when given prophylactically. Data from the COMPACT trial were used to develop a repeated time-to-event model to characterize the timing and frequency of HAE attacks as a function of C1-INH activity, and then develop an exposure-response model to assess the relationship between C1-INH functional activity levels (C1-INH(f)) and the risk of an attack...
January 9, 2018: CPT: Pharmacometrics & Systems Pharmacology
E P Olthof, M R van de Scheur, A E Weis-Potters
BACKGROUND: Angioedema is a condition of acute and extensive fluid accumulation in skin or mucosae due to increased blood vessel permeability. Angioedema can have several causes, including pregnancy. CASE DESCRIPTION: A healthy 33-year-old pregnant woman had acute, substantial swelling of the labia minora with no other symptoms. Based on clinical criteria, angioedema was diagnosed. Laboratory testing did not find any C1 inhibitor deficiency and hereditary angioedema was excluded for that reason...
2018: Nederlands Tijdschrift Voor Geneeskunde
Jaison Jose, Erik B Lehman, Timothy Craig
BACKGROUND: Ever-expanding armamentarium of treatments for hereditary angioedema (HAE) are associated with various adverse effects, issues with vascular access, or lack of self-administration. OBJECTIVE: To understand patients' impressions and confidence in their past and present treatments, and identifying adverse events while also directly asking patients to reveal their hope for the future of HAE management and treatments. METHODS: After institutional review board approval, all subjects with laboratory-confirmed HAE were mailed a survey that they completed and returned to the researchers, and data were collected and entered into a secure online web application for surveys...
January 1, 2018: Allergy and Asthma Proceedings:
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