3,001 results match your criteria Hereditary Angioedema


National Audit of a Hereditary and Acquired Angioedema Cohort in New Zealand.

Intern Med J 2021 Aug 4. Epub 2021 Aug 4.

Department of Clinical Immunology and Allergy, Auckland City Hospital, Grafton Road Auckland, 1032.

Background: HAE leads to significant morbidity and mortality from unpredictable intermittent peripheral, abdominal and laryngeal swelling. Access to appropriate healthcare and effective therapies which can prevent and treat attacks, reduce the suffering and greatly improve quality of life. Although treatments such as C1 inhibitor (Berinert®), and Icatibant® are available in New Zealand (Aotearoa), there is no published data available on their use. Read More

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Clinical and genetic features of hereditary angioedema with and without C1-inhibitor (C1-INH) deficiency in Japan.

Allergy 2021 Aug 3. Epub 2021 Aug 3.

Center for Research, Education, and Treatment of angioEdema, a specified Non-profit Corporation, Fukuoka, Japan.

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The crux of C1-INH testing in everyday lab work.

J Immunol Methods 2021 Jul 28:113109. Epub 2021 Jul 28.

Department of Dermatology and Venereology, Medical University of Graz, Austria.

Background: The determination of functional C1-INH is complex and depends on methodology, sample transport, and storage conditions. In clinical practice, we encounter individuals with pathological values which then cannot be proved true, and HAE patients in whom the values were wrongly found to be normal under non-optimum conditions. We aimed to test realistic real-life sample processing conditions for accurate C1-INH determination. Read More

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Hereditary angioedema.

Int J Emerg Med 2021 Jul 29;14(1):43. Epub 2021 Jul 29.

Department of Otolaryngology-Head and Neck Surgery, Division of Facial Plastic Reconstructive Surgery, Louisiana State University Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71103, USA.

A 14-year-old African American female presented to the emergency department with spontaneous, sudden-onset lip swelling for 1 h. On examination, there was significant water-bag edema of the upper lip extending to the philtrum and premaxilla. Nasopharyngeal laryngoscopy revealed a patent airway without edema. Read More

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Efficacy, Safety and Tolerability of a New 10% Intravenous Immunoglobulin for the Treatment of Primary Immunodeficiencies.

Front Immunol 2021 8;12:707463. Epub 2021 Jul 8.

Allergy Partners of North Texas Research, Dallas, TX, United States.

We report here the results of a phase 3 study to assess the efficacy, safety, and tolerability of GC5107, a new 10% liquid intravenous immunoglobulin (IVIG) in preventing serious bacterial infections in patients with primary immunodeficiency (ClinicalTrials.gov: NCT02783482). Over a 12-month study period, 49 patients aged 3 to 70 years with a confirmed diagnosis of primary immunodeficiency received GC5107 at doses ranging from 319 to 881 mg/kg body weight every 21 or 28 days, according to their previous IVIG maintenance therapy. Read More

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Impact of lanadelumab in hereditary angioedema: a case series of 12 patients in Canada.

Allergy Asthma Clin Immunol 2021 Jul 23;17(1):78. Epub 2021 Jul 23.

Medicine and Departmental Division Director for Clinical Immunology and Allergy, Division of Clinical Immunology and Allergy, University of Toronto, St. Michael's Hospital, Toronto, ON, Canada.

Background: Hereditary angioedema (HAE) is a rare autosomal dominant disease resulting in recurring episodes of swelling, leading to considerable patient morbidity and mortality. Lanadelumab is a plasma kallikrein inhibitor that is approved as 1st line therapy in Canada for long term prophylaxis of HAE attacks.

Objective: To describe our clinical findings from a case series of adult patients with HAE type 1/2 who have been initiated on lanadelumab. Read More

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Demographic and clinical characteristics of patients with hereditary angioedema in Canada.

Ann Allergy Asthma Immunol 2021 Jul 20. Epub 2021 Jul 20.

Department of Medicine, Division of Clinical Immunology and Allergy, University of Toronto, Toronto, Canada. Electronic address:

Background: Data on the clinical and demographic features of Canadian patients with hereditary angioedema (HAE) is lacking.

Objective: Herein, we describe these important features in a large Canadian HAE cohort and compare our patients to HAE patients in other countries.

Methods: An online questionnaire was distributed to the members of two Canadian HAE patient groups to collect information on demographics and HAE clinical characteristics. Read More

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Identification of novel biomarkers to distinguish bradykinin-mediated angioedema from mast cell-/histamine-mediated angioedema.

Allergy 2021 Jul 20. Epub 2021 Jul 20.

Department of Dermatology and Allergy, Hannover Medical School, Comprehensive Allergy Center, Hereditary Angioedema center for rare diseases, Hannover, Germany.

Background: The pathophysiology of the underlying paroxysmal permeability disturbances in angioedema (AE) is not well understood.

Methods: To identify clinical and laboratory parameters specific for a certain AE subtype, 40 AE patients were prospectively enrolled: 15 hereditary (HAE), 13 ACE-inhibitor induced (ACE-AE), and 12 mast cell-mediated without wheals in chronic spontaneous urticaria (CSU-AE). Ten healthy subjects served as controls. Read More

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Long-term prevention of hereditary angioedema attacks with lanadelumab: the HELP OLE Study.

Allergy 2021 Jul 21. Epub 2021 Jul 21.

Division of Rheumatology, Allergy and Immunology, University of California San Diego, La Jolla, CA, USA.

Background: The aim was to evaluate long-term effectiveness and safety of lanadelumab in patients ≥12y old with hereditary angioedema (HAE) 1/2 (NCT02741596).

Methods: Rollover patients completing the HELP Study and continuing into HELP OLE received one lanadelumab 300-mg dose until first attack (dose-and-wait period), then 300mg q2wks (regular dosing stage). Nonrollovers (newly enrolled) received lanadelumab 300mg q2wks from day 0. Read More

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Orladeyo (Berotralstat): A Novel Oral Therapy for the Prevention of Hereditary Angioedema.

Ann Pharmacother 2021 Jul 20:10600280211032982. Epub 2021 Jul 20.

University of Florida College of Pharmacy, Gainesville, FL, USA.

Objective: The purpose of this article is to review the available trials that led to the Food and Drug Administration (FDA) approval of berotralstat, an oral kallikrein inhibitor, for the prevention of hereditary angioedema (HAE) attacks.

Data Sources: PubMed and ClincalTrials.gov were searched using key term to identify phase III clinical trials related to the FDA approval of berotralstat from April 2018 to May 2021. Read More

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Acute Right Ventricular Dysfunction Secondary to Hereditary Angioedema Exacerbation.

Cureus 2021 May 30;13(5):e15336. Epub 2021 May 30.

Department of Internal Medicine, Wright-Patterson Air Force Base/Wright State University, Dayton, USA.

This is a case report of a 31-year-old woman with past medical history of hereditary angioedema (HAE) who developed acute right ventricular dysfunction. The patient presented to the emergency department with complaints of acute abdominal pain and swelling. Her electrocardiogram demonstrated sinus tachycardia and T wave inversion in leads V1-V3, otherwise without findings suggestive of ischemia. Read More

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Management of hereditary angioedema type I and homozygous mutation during pregnancy.

Allergol Immunopathol (Madr) 2021 1;49(4):1-3. Epub 2021 Jul 1.

Clinical Immunology, Reference Center for Rare Diseases, Faculdade de Medicina do ABC, Santo Andre, SP, Brazil.

Hereditary angioedema (HAE) is an autosomal dominant disease, characterized by edema attacks resulting from quantitative and/or functional deficiency of the C1 inhibitor (C1-INH), which acts in controlling the complement, coagulation, fibrinolysis, and contact systems. The exacerbation of these systems results in decreased circulating levels of kallikrein and conversion of bradykinin. In addition, thrombophilia is related to the deficiency of methylenetetrahydrofolate reductase (MTHFR) enzyme, causing an increase in homocysteine, accumulation of atheromatous plaques, and arterial and venous thrombosis. Read More

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The Effect of Age on T-Regulatory Cell Number and Function in Patients With Asthma.

Allergy Asthma Immunol Res 2021 Jul;13(4):646-654

Divisions of Allergy and Clinical Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

T-regulatory cells (Tregs) play a key role in suppressing effector cells and maintaining self-tolerance. Studies of younger adults and children suggest that insufficient differentiation and functional defects of Tregs may contribute to the development of asthma; however, data from older patients with asthma are limited. To address the effects of aging on the relationship of Treg frequency and function with clinical outcomes, we collected induced sputum (differential cell count and Treg frequency) and peripheral blood (Treg function and frequency) from aged (> 60 years of age) and younger (20-40 years old) patients with asthma. Read More

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Clinical manifestations of hereditary angioedema and a systematic review of treatment options.

Laryngoscope Investig Otolaryngol 2021 Jun 3;6(3):394-403. Epub 2021 Apr 3.

Department of Otolaryngology-Head and Neck Surgery Penn State College of Medicine, Penn State University 500 University Drive Hershey Pennsylvania MC H091 USA.

Objective: This study systematically reviews the existing literature on the management of hereditary angioedema (HAE) and provides an update on the clinical presentation and specific therapies.

Methods: A literature search of PubMed and Embase databases was conducted from start of the database to February 2021. Inclusion criteria included relevant systematic reviews, randomized control clinical trials, prospective and retrospective cohort studies, and outcomes research published in English and available in full-text. Read More

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Health-related quality of life in children with hereditary angioedema compared with patients with histaminergic angioedema.

Allergy Asthma Proc 2021 07;42(4):325-332

From the Department of Pediatric Allergy, Hacettepe University Faculty of Medicine, Ankara, Turkey; and.

Hereditary angioedema (HAE) is a potentially life-threatening disease that remarkably impacts patients' health-related quality of life (HRQoL). This study evaluated the HRQoL in children with HAE and compared it with healthy controls and patients with histaminergic angioedema (HA). Fifty-nine children with HAE (median [interquartile range {IQR}], ages, 8. Read More

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Etiology and predictors of cluster attacks of hereditary angioedema that recur despite pharmaceutical treatment.

Allergy Asthma Proc 2021 07;42(4):317-324

From the Department of Otorhinolaryngology, Technische Universität München, München, Germany; and.

Hereditary angioedema (HAE) is a disease that leads to recurrent swelling of the skin and mucous membranes, including the upper airway tract. Apart from being deadly, these attacks can be debilitating, which leads to a poor quality of life in patients. Clinicians are occasionally confronted with patients who have recurrent attacks despite treatment with C1 esterase inhibitor concentrate or β₂-receptor antagonists. Read More

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Psychosocial burden of type 1 and 2 hereditary angioedema: a single-center Canadian cohort study.

Allergy Asthma Clin Immunol 2021 Jun 29;17(1):61. Epub 2021 Jun 29.

Southern Alberta Rare Blood and Bleeding Disorders Comprehensive Care Program, Calgary, AB, T2N 2T9, Canada.

Background: Hereditary angioedema (HAE) is a rare but serious disorder associated with a multifaceted burden of illness including a high prevalence of psychiatric symptoms and impaired health-related quality of life (HRQoL). Despite recent efforts to clarify the psychosocial implications of HAE, important gaps still remain. The aim of this study was to characterize the psychosocial burden associated with HAE types 1 and 2. Read More

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Letting the patients speak: an in-depth, qualitative research-based investigation of factors relevant to health-related quality of life in real-world patients with hereditary angioedema using subcutaneous C1 inhibitor replacement therapy.

Allergy Asthma Clin Immunol 2021 Jun 27;17(1):60. Epub 2021 Jun 27.

Institute for Asthma and Allergy, Chevy Chase, MD, USA.

Background: While many studies of effective hereditary angioedema (HAE) therapy have demonstrated improved health-related quality of life (HRQoL) using validated instruments, specific reasons behind the improved scores have never been investigated using qualitative methods. A non-interventional, qualitative research study was designed to investigate the reasons for improvements in HRQoL while using effective prophylaxis, in this case subcutaneous C1INH (C1INH[SC]) replacement therapy.

Methods: Adult patients with HAE-C1INH type 1 or 2 who had been using C1INH(SC) for ≥ 3 consecutive months were recruited through four HAE specialty practices in the US to participate in a 60-min phone interview performed by a trained qualitative research specialist (ICON plc) using a semi-structured interview guide with open-ended questions developed with the Angioedema Quality of Life (AE-QoL) items in mind. Read More

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Effectiveness of lanadelumab for preventing hereditary angioedema attacks: Subgroup analyses from the HELP study.

Clin Exp Allergy 2021 Jun 24. Epub 2021 Jun 24.

Division of Rheumatology, Allergy and Immunology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

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Outcome of SARS-CoV-2 Infection in 121 Patients with Inborn Errors of Immunity: A Cross-Sectional Study.

J Clin Immunol 2021 Jun 23. Epub 2021 Jun 23.

Universidade Federal de Goias (UFG), Goiânia, GO, Brazil.

Purpose: There is still scarce data on SARS-CoV-2 infection in patients with Inborn Errors of Immunity (IEI) and many unresolved questions. We aimed to describe the clinical outcome of SARS-CoV-2 infection in Brazilian IEI patients and identify factors influencing the infection.

Methods: We did a cross-sectional, multicenter study that included patients of any age affected by IEI and SARS-CoV-2 infection. Read More

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Long-term safety and effectiveness of berotralstat for hereditary angioedema: The open-label APeX-S study.

Clin Transl Allergy 2021 Jun;11(4):e12035

BioCryst Pharmaceuticals, Durham, North Carolina, USA.

Background: Berotralstat (BCX7353) is an oral, once-daily inhibitor of plasma kallikrein recently approved for prevention of angioedema attacks in adults and adolescents with hereditary angioedema (HAE). The objective of this report is to summarize results from an interim analysis of an ongoing long-term safety study of berotralstat in patients with HAE.

Methods: APeX-S is an ongoing, phase 2, open-label study conducted in 22 countries (ClinicalTrials. Read More

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[Impact of disease on daily activities, emotions and quality of life of patients with hereditary angioedema].

Rev Med Interne 2021 Jun 20. Epub 2021 Jun 20.

Département de médecine interne et immunologie clinique, CHU Lille, 59000 Lille, France; Centre de référence des angiœdèmes à Kinines, 59000 Lille, France; University Lille, U1286 - INFINITE - Institute for Translational Research in Inflammation, 59000 Lille, France; Inserm, 59000 Lille, France. Electronic address:

Introduction: Hereditary angioedema (HAE) is characterized by recurrent attacks of swelling of various locations and severity. An impaired quality of life of patients with HAE has been reported by several studies. We aimed at examining the overall impact of the disease in patients followed for type I HAE, particularly its impact on daily life activities, emotions and quality of life. Read More

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Analysis of cold activation of the contact system in hereditary angioedema with normal C1 inhibitor.

Mol Immunol 2021 Aug 18;136:150-160. Epub 2021 Jun 18.

Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, United States.

Hereditary angioedema (HAE) attacks are caused by excessive activation of the contact system. Understanding how the contact system is activated in HAE, especially in patients with normal C1 inhibitor (HAEnCI), is essential to effectively treat this disease. Contact system activation involves the cleavage of several proteins including Factor XII (FXII), high molecular weight kininogen (HK), prekallikrein, sgp120 (ITIH4) and C1 inhibitor (C1-INH) before the subsequent generation of bradykinin that mediates HAE. Read More

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Factor XII(a) inhibitors: a review of the patent literature.

Expert Opin Ther Pat 2021 Jul 27:1-22. Epub 2021 Jul 27.

Institute of Pharmaceutical and Medicinal Chemistry, University of Münster, Münster, Germany.

: Blood coagulation factor XII (FXII) is an emerging and potentially safe drug target, which dysregulation is associated with thrombosis, hereditary angioedema, and (neuro)inflammation. At the same time, FXII-deficiency is practically asymptomatic. Industrial and academic institutions have developed a number of potential therapeutic agents targeting either FXII zymogen or its active form FXIIa for the treatment of thrombotic and inflammatory conditions associated with the activity of this enzyme. Read More

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Angioedema: differential diagnosis and acute management.

Postgrad Med 2021 Jul 26:1-6. Epub 2021 Jul 26.

Carolina Asthma & Allergy Center, Charlotte, NC, USA.

A clinical vignette illustrates a typical presentation of a patient seeking help for acute angioedema. Despite the risks of SARS-CoV-2 (COVID-19) exposure, it is critical to evaluate patients with acute angioedema in person, because there is always the potential for angioedema to progress to the head, neck, or lungs, which can rapidly compromise the airways and require immediate intervention to avoid potential asphyxiation. There are three mediators of angioedema, histamine, leukotriene, or bradykinin, each requiring different management. Read More

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Berotralstat (BCX7353) is a novel oral prophylactic treatment for hereditary angioedema: Review of phase II and III studies.

Allergy Asthma Proc 2021 07 14;42(4):274-282. Epub 2021 Jun 14.

Kashkin Allergy, Asthma and Immunology Center, Fair Lawn, New Jersey.

Hereditary angioedema (HAE) is a rare genetic disorder characterized by unpredictable and potentially life-threatening episodes of swelling in various parts of the body. These attacks can be painful and debilitating, and affect a patient's quality of life. Every patient who experiences an attack should be treated with on-demand medication to mitigate attack severity and duration. Read More

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What's New in the Treatment of Urticaria and Angioedema.

J Allergy Clin Immunol Pract 2021 06;9(6):2170-2184

Department for Children and Adolescents, University Hospital Frankfurt, Goethe University, Theodor-Stern-Kai 7, Frankfurt, Germany.

Chronic urticaria and angioedema are diseases often managed by Allergy and Immunology specialists. Recent international guidelines have outlined a stepwise approach to management of patients using dose escalation of second-generation antihistamines followed by use of omalizumab and finally cyclosporine in more refractory cases. In select patients (those with refractory chronic urticaria), nonbiologic alternative medications with anti-inflammatory or immunosuppressant activity may be considered. Read More

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Triggers of Exacerbation in Chronic Urticaria and Recurrent Angioedema-Prevalence and Relevance.

J Allergy Clin Immunol Pract 2021 06;9(6):2160-2168

Clinical Faculty, University of Texas Southwestern Medical School, Allergy and Asthma Specialists, Dallas, Texas. Electronic address:

Patients with urticaria and angioedema often have triggers that cause an outbreak or a swelling episode or worsen their chronic condition. Exploring these factors with each patient may result in better understanding and control of their disease. Patients should be advised to avoid known triggers, if feasible, or prepare to prevent or control an exacerbation with appropriate pretreatment if avoidance is not possible. Read More

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