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Hereditary angioedema

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https://www.readbyqxmd.com/read/29343682/intermittent-c1-inhibitor-deficiency-associated-with-recessive-inheritance-functional-and-structural-insight
#1
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
https://www.readbyqxmd.com/read/29337441/-allergology-and-clinical-immunology
#2
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
https://www.readbyqxmd.com/read/29318628/the-international-wao-eaaci-guideline-for-the-management-of-hereditary-angioedema-the-2017-revision-and-update
#3
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
https://www.readbyqxmd.com/read/29316335/exposure-response-model-of-subcutaneous-c1-inhibitor-concentrate-to-estimate-the-risk-of-attacks-in-patients-with-hereditary-angioedema
#4
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
https://www.readbyqxmd.com/read/29303100/-vulvar-angioedema-during-pregnancy
#5
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
https://www.readbyqxmd.com/read/29279063/evaluating-satisfaction-of-patients-with-hereditary-angioedema-with-their-past-and-present-treatments-implications-for-future-therapies
#6
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:
https://www.readbyqxmd.com/read/29249111/-hereditary-angioedema-by-c1-inhibitor-deficit-diagnostic-and-therapeutic-challenges-case-report
#7
Álvaro José Mayorga, Gerardo José Ayestas-Moreno
BACKGROUND: Hereditary angioedema is a disease which manifests itself with episodes of spontaneous edema on skin, mucosal and airway. Treatment includes acute and prophylactic approach to minimize the attacks and severity. In many parts of the world, androgen derivatives, antifibrinolytic and fresh frozen plasma are the therapies available for prophylaxis. CLINICAL REPORT: 16 years old teenager of without history of immune decease, has in the course of 1-year repetitive episodes of painless, non-pruritic angioedema, does not respond to antihistamine therapy, corticosteroids or adrenaline; fresh frozen plasma is applied in 1 occasion exacerbating episode with severity...
October 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/29226721/investigational-drugs-in-phase-i-and-phase-ii-clinical-trials-for-hereditary-angioedema
#8
Henriette Farkas, Márta Lídia Debreczeni, Kinga Viktória Kőhalmi
Hereditary angioedema (HAE) with C1-inhibitor deficiency (C1-INH-HAE) is a rare bradykinin-mediated disease characterized by recurrent subcutaneous and/or submucosal angioedematous attacks (HAE attacks), which occur unpredictably. The recurrent HAE attacks do not respond to conventional treatments, and may evolve into a life-threatening condition; therefore, special therapy is required. Areas covered: The agents used so far for the acute management of HAE attacks act by blocking the release of bradykinin, or its binding to its receptor...
December 11, 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/29214395/pharmacological-management-of-hereditary-angioedema-with-c1-inhibitor-deficiency-in-pediatric-patients
#9
REVIEW
Henriette Farkas
Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is a form of bradykinin-mediated angioedema. It is a rare disorder with an onset during childhood in most instances. Therefore, familiarity with the options for the management of pediatric cases is indispensable. The recurrent angioedematous episodes do not respond to conventional treatments and may evolve into a life-threatening condition. In view of the recommendations adopted by international consensus in 2016, patient management and follow-up should be guided by an individualized strategy...
December 7, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/29214154/the-search-for-biomarkers-in-hereditary-angioedema
#10
REVIEW
Allen P Kaplan, Coen Maas
The unpredictable nature of attacks of tissue swelling in hereditary angioedema requires the identification of reliable biomarkers to monitor disease activity as well as response to therapy. At present, one can assess a C4 level (by ELISA) to assist in diagnosis but neither C4 nor C1 inhibitor levels reflect clinical course or prognosis. We will here review a collection of plasma proteins involved in blood coagulation, fibrinolysis, and innate immunity (Figure 1). A main focus is those proteins that are key to the formation of bradykinin (BK); namely, factor XII, plasma prekallikrein/kallikrein, high-molecular weight kininogen, and BK itself since overproduction of BK is key to the disease...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/29166502/outcomes-of-long-term-treatments-of-type-i-hereditary-angioedema-in-a-turkish-family
#11
Gulsen Akoglu, Belgin Kesim, Gokhan Yildiz, Ahmet Metin
BACKGROUND: Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks. OBJECTIVE: We aimed to investigate the clinical and genetic features of a family with angioedema attacks. METHODS: The medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes of long-term treatments were described. RESULTS: Five members had experienced recurrent swellings on the face and extremities triggered by trauma...
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29130992/genetic-determinants-of-c1-inhibitor-deficiency-angioedema-age-of-onset
#12
Panagiota Gianni, Gedeon Loules, Maria Zamanakou, Maria Kompoti, Dorottya Csuka, Fotis Psarros, Markus Magerl, Dimitru Moldovan, Marcus Maurer, Matthaios G Speletas, Henriette Farkas, Anastasios E Germenis
BACKGROUND: In view of the large heterogeneity in the clinical presentation of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE), great efforts are being made towards detecting measurable biological determinants of disease severity that can help to improve the management of the disease. Considering the central role that plasma kallikrein plays in bradykinin production, we investigated the contribution of the functional polymorphism KLKB1-428G/A to the disease phenotype...
November 9, 2017: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/29128335/hereditary-angioedema-with-normal-c1-inhibitor-and-f12-mutations-in-42-brazilian-families
#13
Camila Lopes Veronez, Adriana S Moreno, Rosemeire Navickas Constantino-Silva, Luana S M Maia, Mariana P L Ferriani, Fábio F M Castro, Solange Rodrigues Valle, Victor Koji Nakamura, Nathália Cagini, Rozana Fátima Gonçalves, Eli Mansour, Faradiba Sarquis Serpa, Gabriela Andrade Coelho Dias, Miguel Alberto Piccirillo, Eliana Toledo, Marli de Souza Bernardes, Sven Cichon, Christiane Stieber, L Karla Arruda, João Bosco Pesquero, Anete Sevciovic Grumach
BACKGROUND: Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare condition with clinical features similar to those of HAE with C1-INH deficiency. Mutations in the F12 gene have been identified in subsets of patients with HAE with normal C1-INH, mostly within families of European descent. OBJECTIVES: Our aim was to describe clinical characteristics observed in Brazilians from 42 families with HAE and F12 gene mutations (FXII-HAE), and to compare these findings with those from other populations...
November 8, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/29112487/pharmacotherapy-for-angiotensin-converting-enzyme-inhibitor-induced-angioedema-a-systematic-review
#14
Claire M Lawlor, Ashwin Ananth, Blair M Barton, Thomas C Flowers, Edward D McCoul
Objective Angioedema is a potentially life-threatening complication of angiotensin-converting enzyme inhibitor (ACEI) use, occurring in up to 0.5% of users. Although the pathophysiology of ACEI-induced angioedema is attributable to elevated serum bradykinin, standard management typically includes corticosteroids and antihistamines. We sought to summarize the evidence supporting pharmacotherapy for ACEI-induced angioedema. Data Sources PubMed, MEDLINE, and Embase portals. Methods A systematic literature review was conducted according to the PRISMA guidelines...
November 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29107952/hereditary-angioedema-assessing-the-hypothesis-for-underlying-autonomic-dysfunction
#15
Maddalena A Wu, Francesco Casella, Francesca Perego, Chiara Suffritti, Nada Afifi Afifi, Eleonora Tobaldini, Andrea Zanichelli, Chiara Cogliati, Nicola Montano, Marco Cicardi
BACKGROUND: Attacks of Hereditary Angioedema due to C1-inhibitor deficiency (C1-INH-HAE)are often triggered by stressful events/hormonal changes. OBJECTIVE: Our study evaluates the relationship between autonomic nervous system (ANS) and contact/complement system activation. METHODS: Twenty-three HAE patients (6 males, mean age 47.5±11.4 years) during remission and 24 healthy controls (8 males, mean age 45.3±10.6 years) were studied. ECG, beat-by-beat blood pressure, respiratory activity were continuously recorded during rest (10') and 75-degrees-head-up tilt (10')...
2017: PloS One
https://www.readbyqxmd.com/read/29093422/comparison-of-the-frequency-of-angioedema-attack-before-and-during-pregnancy-in-a-patient-with-type-i-hereditary-angioedema
#16
Atsushi Satomura, Takayuki Fujita, Tomohiro Nakayama
The patient was a 38-year-old Japanese woman who had been diagnosed with hereditary angioedema type I at 7 years of age based on her family history. She had undergone four pregnancies. She gave birth to a healthy baby girl after her first pregnancy and had reported few episodes of angioedema. However, she subsequently required abortions due to frequent angioedema episodes that occurred during her three subsequent pregnancies. Thus, our patient showed two clinical pregnancy courses. After treating her with C1-inhibitor concentrate, her symptoms of angioedema disappeared...
November 1, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29093383/clinical-features-of-hereditary-and-mast-cell-mediated-angioedema-focusing-on-the-differential-diagnosis-in-japanese-patients
#17
Isao Ohsawa, Daisuke Honda, Atsuko Hisada, Hiroyuki Inoshita, Kisara Onda-Tsueshita, Satoshi Mano, Nobuyuki Sato, Yuya Nakamura, Tatsuo Shimizu, Hiromichi Gotoh, Yoshikazu Goto, Yusuke Suzuki, Yasuhiko Tomino
Background The present study was designed to identify the clinical characteristics that permit the differential diagnosis of hereditary angioedema (HAE) and mast cell-mediated angioedema (Mast-AE) during the first consultation. Methods The medical histories and laboratory data of 46 patients with HAE and 41 patients with Mast-AE were compared. Results The average age of onset in the HAE group (19.8±9.0 years) was significantly lower than that in the Mast-AE group (35.2±12.0 years). The incidence of familial angioedema (AE) in the HAE group (73...
November 1, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29070276/multiple-doses-of-icatibant-used-during-pregnancy
#18
Lauren W Kaminsky, Theodore Kelbel, Fay Ansary, Timothy Craig
BACKGROUND: Hereditary angioedema (HAE) is a life-long disease that often manifests by puberty. Treatment of attacks is essential to improve quality of life and to decrease morbidity and mortality. During pregnancy, treatment is limited because multiple treatment options, including icatibant, are not approved for use during pregnancy. OBJECTIVE: We report the outcomes of three pregnancies during which icatibant was used by a patient with HAE with normal C1-inhibitor for treatment of attacks...
October 1, 2017: Allergy & Rhinology
https://www.readbyqxmd.com/read/29059678/endocan-a-novel-marker-of-endothelial-dysfunction-in-c1-inhibitor-deficient-hereditary-angioedema
#19
Mustafa Demirturk, Timur Selcuk Akpinar, Murat Kose, Aslı Gelincik, Bahattin Colakoğlu, Suna Buyukozturk
BACKGROUND: Hereditary angioedema (HAE) related to C1-inhibitor deficiency is a rare autosomal dominant disorder. Vascular cell adhesion molecules (VCAM) are known as endothelial activation markers. Endocan (also called ESM-1) is proposed as an endothelial dysfunction indicator. We aimed to investigate endothelial activation in attack-free periods in HAE patients by measuring their levels of endocan and VCAM-1. METHODS: Twenty-six HAE patients (22 female, mean age 40 ± 13 years) and 38 healthy control patients (13 female, mean age 36...
2017: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/29057741/pregnancy-and-postpartum-in-hereditary-angioedema-with-c1-inhibitor-deficit-in-women-who-have-no-access-to-therapy
#20
A Mrg Machado, R Mg Pires, R O Martins, A S Grumach
No abstract text is available yet for this article.
2017: Journal of Investigational Allergology & Clinical Immunology
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