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Hereditary angioedema

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https://www.readbyqxmd.com/read/28795768/hereditary-angioedema-with-a-mutation-in-the-plasminogen-gene
#1
K Bork, K Wulff, L Steinmüller-Magin, I Braenne, P Staubach-Renz, G Witzke, J Hardt
BACKGROUND: Hereditary angioedema (HAE) with normal C1-INH (HAEnCI) may be linked to specific mutations in the coagulation factor 12 (FXII) gene (HAE-FXII) or functional mutations in other genes that are still unknown. We sought to identify and characterize a hitherto unknown type of HAE with normal C1-INH and without mutation in the F12 gene. METHODS: The study comprised analysis of whole exome sequencing, Sanger sequencing, and clinical data of patients. RESULTS: We detected a mutation in the plasminogen gene in patients with HAEnCI...
August 10, 2017: Allergy
https://www.readbyqxmd.com/read/28791569/pediatric-angioedema
#2
REVIEW
Debendra Pattanaik, Jay Adam Lieberman
PURPOSE OF REVIEW: The aims of this study are to update the clinician on current understanding of angioedema as it presents in the pediatric population and to review proper diagnostic techniques and treatment modalities for various types of angioedema. RECENT FINDINGS: Angioedema is still best classified by whether it is likely histaminergic or kinin-mediated. New guidelines have been published around the world to help diagnose and treat both forms (urticaria/angioedema and hereditary angioedema)...
August 8, 2017: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/28782632/cleaved-kininogen-as-a-biomarker-for-bradykinin-release-in-hereditary-angioedema
#3
Zonne L M Hofman, Steven de Maat, Chiara Suffritti, Andrea Zanichelli, Cassandra van Doorn, Silvie A E Sebastian, Nora Veszeli, Dorottya Csuka, Thomas Renné, Gerard Pasterkamp, Marco Cicardi, Henriette Farkas, C Erik Hack, Coen Maas
Cleaved high-molecular weight kininogen (cHK) in plasma is a biomarker for bradykinin formation. We developed an immuno-assay to detect cHK in plasma. cHK plasma levels are increased in asymptomatic C1-INH-HAE patients, and increase further during angioedema attacks.
August 3, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28781749/pediatric-hereditary-angioedema-an-update
#4
REVIEW
Geetika Sabharwal, Timothy Craig
Hereditary angioedema (HAE) with C1-inhibitor (C1-Inh) deficiency (C1-Inh-HAE) is a rare, life-threatening, and disabling genetic disorder characterized by self-limited tissue swelling caused by deficiency or dysfunction of C1-Inh. Our aim in this update is to discuss new advances in HAE therapy, focusing mainly on the various treatment options that have become available recently and also drugs that are under trial for prophylaxis to prevent attacks. There is a paradigm shift to where the treatment of HAE is headed, focusing now on prophylactic treatment rather than abortive management...
2017: F1000Research
https://www.readbyqxmd.com/read/28780879/-effect-of-danazol-treatment-on-growth-in-pediatric-patients-with-hereditary-angioedema-due-to-c1-inhibitor-deficiency
#5
Kinga Viktória Kőhalmi, Nóra Veszeli, Andrea Luczay, Lilian Varga, Henriette Farkas
INTRODUCTION: Attenuated androgens are used for the prevention of angioedema attacks of hereditary angioedema with C1-inhibitor deficiency. After prepuberty, their use can lead to growth retardation. AIM: We assessed the effect of danazol on the growth of pediatric patients with hereditary angioedema. METHOD: In the retrospective study on 42 patients diagnosed with hereditary angioedema, we calculated the deviation from the mid-parental target height, and analyzed it against the gender, the dose and duration of danazol treatment administered before the age of 21 years and before the age of 16 years...
August 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28780207/hereditary-angioedema-an-overlooked-cause-of-recurrent-abdominal-pain-and-free-peritoneal-fluid
#6
Piotr Eder, Maciej Adler, Liliana Lykowska-Szuber
No abstract text is available yet for this article.
August 2, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28763531/new-hereditary-angioedema-therapy
#7
Rebecca Voelker
No abstract text is available yet for this article.
August 1, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28715060/the-complex-interaction-between-polycystic-ovary-syndrome-and-hereditary-angioedema-case-reports-and-review-of-the-literature
#8
Marina Iahn-Aun, Marcelo Vivolo Aun, Antonio Abílio Motta, Jorge Kalil, Pedro Giavina-Bianchi, Sylvia Asaka Hayashida, Edmund Chada Baracat, Gustavo Arantes Maciel
Importance: Hereditary angioedema (HAE) is a rare but severe disease, with high risk of death, and attacks have been associated to high estrogen levels. Polycystic ovary syndrome (PCOS) is a common hyperandrogenic condition, which is frequently treated with combined oral contraceptives. Objective: The aim of this study was to describe 2 clinical cases of young women diagnosed as having PCOS who developed HAE attacks after the introduction of combined estrogen-progestin pills to treat PCOS symptoms...
July 2017: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/28692169/the-relationship-between-anxiety-and-quality-of-life-in-children-with-hereditary-angioedema
#9
Aharon Kessel, Henriette Farkas, Shmuel Kivity, Nóra Veszeli, Kinga Viktória Kőhalmi, Batya Engel-Yeger
BACKGROUND: The severe life-threatening characteristics of hereditary angioedema (HAE) with C1-inhibitor deficiency (C1-INH-HAE) can affect anxiety levels among pediatric patients. This emotional burden together with the physical restrictions of C1-INH-HAE may decrease children's health-related quality of life (HRQoL). OBJECTIVE: (1) To compare anxiety state and trait between children with C1-INH-HAE and healthy controls (2) To examine the relationship between the level of anxiety of children with C1-INH-HAE, their disease activity/affected sites and their HRQoL (3) To predict the HRQoL of children with C1-INH-HAE based on their anxiety level and disease activity/affected sites...
July 10, 2017: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/28690642/breakthrough-attacks-in-patients-with-hereditary-angioedema-receiving-long-term-prophylaxis-are-responsive-to-icatibant-findings-from-the-icatibant-outcome-survey
#10
Werner Aberer, Marcus Maurer, Laurence Bouillet, Andrea Zanichelli, Teresa Caballero, Hilary J Longhurst, Amandine Perrin, Irmgard Andresen
BACKGROUND: Patients with hereditary angioedema (HAE) due to C1-inhibitor deficiency (C1-INH-HAE) experience recurrent attacks of cutaneous or submucosal edema that may be frequent and severe; prophylactic treatments can be prescribed to prevent attacks. However, despite the use of long-term prophylaxis (LTP), breakthrough attacks are known to occur. We used data from the Icatibant Outcome Survey (IOS) to evaluate the characteristics of breakthrough attacks and the effectiveness of icatibant as a treatment option...
2017: Allergy, Asthma, and Clinical Immunology
https://www.readbyqxmd.com/read/28687113/pharmacoeconomics-of-orphan-disease-treatment-with-a-focus-on-hereditary-angioedema
#11
REVIEW
William R Lumry
This article discusses orphan diseases, their prevalence, legislative incentives to encourage development of therapies, and the impact of treatment on health care payment systems. Specifically, the cost burden of hereditary angioedema on patients, health care systems, and society is reviewed. The impact of availability of and access to novel and specific therapies on morbidity, mortality, and overall burden of disease is explored. Changes in treatment paradigms to improve effect and reduce cost of treatment are presented...
August 2017: Immunology and Allergy Clinics of North America
https://www.readbyqxmd.com/read/28687112/burden-of-illness-and-quality-of-life-measures-in-angioedema-conditions
#12
REVIEW
Teresa Caballero, Nieves Prior
Burden of illness studies and evaluation of health-related quality of life using validated questionnaires have become an important task in the comprehensive management of angioedema conditions, mainly angioedema associated with chronic spontaneous urticaria and hereditary angioedema caused by C1-inhibitor deficiency. A review of the principal tools and studies is presented. Both diseases present a higher proportion of psychiatric disorders, impair work and studies productivity, and produce high direct and indirect costs...
August 2017: Immunology and Allergy Clinics of North America
https://www.readbyqxmd.com/read/28687111/emerging-therapies-in-hereditary-angioedema
#13
REVIEW
Meng Chen, Marc A Riedl
Remarkable progress has been made in the treatment of bradykinin-mediated angioedema with the advent of multiple new therapies. Patients now have effective medications available for prophylaxis and treatment of acute attacks. However, hereditary angioedema is a burdensome disease that can lead to debilitating and dangerous angioedema episodes associated with significant costs for individuals and society. The burden of treatment must be addressed regarding medication administration difficulties, treatment complications, and adverse side effects...
August 2017: Immunology and Allergy Clinics of North America
https://www.readbyqxmd.com/read/28687110/hereditary-angioedema-with-normal-c1-inhibitor-update-on-evaluation-and-treatment
#14
REVIEW
Markus Magerl, Anastasios E Germenis, Coen Maas, Marcus Maurer
A new form of hereditary angioedema (HAE) was identified in the year 2000. Its clinical appearance resembles HAE types I and II, which are caused by mutations that result in a deficiency of C1 inhibitor (C1-INH). In patients with the new form of HAE, C1-INH plasma levels and function values are normal, so it's termed HAE with normal C1-INH (HAE-nC1). HAE-nC1, in a subgroup of patients, is thought to be caused by mutations that affect the F12 gene. The diagnosis of HAE-nC1 is based on history and clinical criteria...
August 2017: Immunology and Allergy Clinics of North America
https://www.readbyqxmd.com/read/28687109/prophylactic-therapy-for-hereditary-angioedema
#15
REVIEW
Hilary Longhurst, Emily Zinser
Long-term prophylaxis is needed in many patients with hereditary angioedema and poses many challenges. Attenuated androgens are effective in many but are limited by side effect profiles. There is less evidence for efficacy of tranexamic acid and progestagens; however, the small side effect profile makes tranexamic acid an option for prophylaxis in children and progestagens an option for women. C1 inhibitor is beneficial, but at present requires intravenous delivery and may need dose titration for maximum efficacy...
August 2017: Immunology and Allergy Clinics of North America
https://www.readbyqxmd.com/read/28687108/acute-management-of-hereditary-angioedema-attacks
#16
REVIEW
Constance H Katelaris
Several treatment modalities have become available for management of acute hereditary angioedema (HAE) attacks in the last 15 years. Most are now available to patients in North America, Europe, United Kingdom, and Australia, but few options exist in developing countries. Preferred contemporary use of the treatments to be discussed is "on demand," because control remains with the patient and delays in treatment access avoided. Four treatments-plasma-derived C1 inhibitor concentrate, recombinant C1 inhibitor concentrate, ecallantide, and icatibant-are reviewed in this article...
August 2017: Immunology and Allergy Clinics of North America
https://www.readbyqxmd.com/read/28687107/laboratory-approaches-for-assessing-contact-system-activation
#17
REVIEW
Sandra C Christiansen, Bruce L Zuraw
Hereditary angioedema (HAE) is a rare autosomal dominant disease clinically characterized by recurrent, often unpredictable attacks of subcutaneous and mucosal swelling. Acute episodes are debilitating, painful, disfiguring, and potentially fatal. HAE type I and type II result from a deficiency in the plasma level of functional C1 inhibitor. HAE with normal levels of C1 inhibitor has been recognized. There is evidence that contact activation underlies the recurrent attacks of swelling. This article reviews laboratory parameters to detect contact system activation and implications for diagnosis of HAE and other forms of bradykinin-mediated angioedema...
August 2017: Immunology and Allergy Clinics of North America
https://www.readbyqxmd.com/read/28687106/pathogenesis-of-hereditary-angioedema-the-role-of-the-bradykinin-forming-cascade
#18
REVIEW
Allen P Kaplan, Kusumam Joseph
Hereditary angioedema (HAE) is an autosomal-dominant disorder owing to mutations in the C1 inhibitor gene. Type I is characterized by a low C1 inhibitor protein level and diminished functional activity, whereas type II has a normal (or elevated) protein level but diminished function. When functional levels drop beyond 40% of normal, attacks of swelling are likely to occur due to overproduction of bradykinin. Angioedema can be peripheral, abdominal, or laryngeal. The typical duration of episodes is 3 days. Therapies include C1 inhibitor replacement for prophylaxis or acute therapy, whereas inhibition of kallikrein or blockade at the bradykinin receptor level can interrupt acute episodes of swelling...
August 2017: Immunology and Allergy Clinics of North America
https://www.readbyqxmd.com/read/28668241/patient-satisfaction-and-experience-with-intravenously-administered-c1-inhibitor-concentrates-in-the-united-states
#19
Marc A Riedl, Aleena Banerji, Paula J Busse, Douglas T Johnston, Mark A Davis-Lorton, Shital Patel, Howard Parr, Joseph Chiao, Douglas J Watson, Earl Burrell, Thomas Machnig
BACKGROUND: Hereditary angioedema (HAE) is a rare genetic disorder with substantial morbidity and mortality. Despite expanded choices for effective acute treatment, prophylactic options are more limited. Intravenous C1 esterase inhibitor (C1-INH[IV]) is licensed and used to prevent HAE symptoms. OBJECTIVE: To better understand patient experiences with using C1-INH(IV), including level of satisfaction and types and frequency of complications. METHODS: Fifty adult members (≥18 years of age) of the US HAE Association who had HAE type I or II completed a self-administered internet survey...
July 2017: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/28662509/preventing-hereditary-angioedema-attacks-in-children-using-cinryze%C3%A2-interim-efficacy-and-safety-phase-3-findings
#20
Emel Aygören-Pürsün, Daniel Soteres, Dumitru Moldovan, Jim Christensen, Arthur Van Leerberghe, James Hao, Jennifer Schranz, Kraig W Jacobson, Inmaculada Martinez-Saguer
BACKGROUND: Hereditary angioedema (HAE) is a rare genetic disease causing unpredictable and potentially life-threatening subcutaneous and submucosal edematous attacks. Cinryze® (Shire ViroPharma Inc., Lexington, MA, USA), a nanofiltered C1 inhibitor (C1-INH), is approved in Europe for the treatment, preprocedure prevention, and routine prophylaxis of HAE attacks, and for the routine prophylaxis of attacks in the USA. This phase 3 study assessed the safety and efficacy of 2 C1-INH doses in preventing attacks in children aged 6-11 years...
2017: International Archives of Allergy and Immunology
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