3,135 results match your criteria Angioedema Hereditary

Lanadelumab for hereditary angioedema.


Aust Prescr 2022 Apr 4;45(2):65. Epub 2022 Mar 4.

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Investigation of Mortality of Hereditary Angioedema in a Reference Center in Brazil.

J Allergy Clin Immunol Pract 2022 May 5. Epub 2022 May 5.

Department of Pediatrics, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.

Background: Hereditary angioedema (HAE) is known for its mortality when not treated properly. Many advances have occurred over the last decades that impacted the patients' lives. However, not all patient populations have access to the same diagnosis and treatment resources. Read More

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Prophylactic therapy with subcutaneous C1-inhibitor is associated with sustained symptom control in patients with hereditary angioedema.

Allergy Asthma Proc 2022 05;43(3):202-208

Global Clinical Scientist Lead, Clinical Research TA Immunology, CSL Behring, King of Prussia, Pennsylvania.

Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency is a rare genetic disorder characterized by disabling episodes of edema that commonly affect the skin as well as the gastrointestinal tract and upper airway. Prophylactic therapy can decrease the severity and number of attacks. Long-term symptom control and rescue medication use were evaluated in patients with HAE who received subcutaneous (SC) C1-INH enrolled in an open-label extension (OLE) of the phase III COMPACT (Clinical Studies for Optimal Management of Preventing Angioedema with Low-Volume Subcutaneous C1-Inhibitor Replacement Therapy) trial, including a subgroup analysis of patients treated for ≥12 months. Read More

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Tolerance of bradykinin-releasing drugs in patients with acquired C1 inhibitor deficiency: a case series and review of the literature.

Eur J Dermatol 2022 Feb;32(1):49-55

CHU Lille, Département de Médecine Interne et Immunologie Clinique, F-59000 Lille, France, Centre de Référence des Angiœdèmes à Kinines, F-59000 Lille, France, University Lille, U1286 - INFINITE - Institute for Translational Research in Inflammation, F-59000 Lille, France, Inserm, F-59000 Lille, France.

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February 2022

Bradykinin formation by mutant plasminogen.

Allen P Kaplan

Blood 2022 May;139(18):2732-2733

The Medical University of South Carolina.

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The international WAO/EAACI guideline for the management of hereditary angioedema - The 2021 revision and update.

World Allergy Organ J 2022 Mar 7;15(3):100627. Epub 2022 Apr 7.

Department of Immunology, Barts Health NHS Trust, London, United Kingdom.

Hereditary Angioedema (HAE) is a rare and disabling disease for which early diagnosis and effective therapy are critical. This revision and update of the global WAO/EAACI guideline on the diagnosis and management of HAE provides up-to-date guidance for the management of HAE. For this update and revision of the guideline, an international panel of experts reviewed the existing evidence, developed 28 recommendations, and established consensus by an online DELPHI process. Read More

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Novel Plasma Kallikrein Inhibitors for Treating Hereditary Angioedema, Diabetic Macular Edema, and Diabetic Retinopathy.

Ram W Sabnis

ACS Med Chem Lett 2022 Apr 4;13(4):528-529. Epub 2022 Mar 4.

Smith, Gambrell & Russell LLP, 1105 W. Peachtree Street NE, Suite 1000, Atlanta, Georgia 30309, United States.

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Hereditary Angioedema: A Review.

Heidi Zafra

WMJ 2022 Apr;121(1):48-53

Division of Allergy/Clinical Immunology, Medical College of Wisconsin, Milwaukee, Wisconsin,

Hereditary angioedema (HAE) is a rare and disabling disorder wherein there is excessive bradykinin production, with subsequent increased vascular permeability in the superficial tissues and gastrointestinal and respiratory mucosa. This article serves as a review of the pathogenesis of the disease, as well as an update of the evidence-based new treatment recommendations to help clinicians with the diagnosis and management of HAE. Read More

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A multicenter, open-label, randomized, proof-of-concept phase II clinical trial to assess the efficacy and safety of icatibant in patients infected with SARS-CoV-2 (COVID-19) and admitted to hospital units without invasive mechanical ventilation: study protocol (ICAT-COVID).

Trials 2022 Apr 12;23(1):303. Epub 2022 Apr 12.

Clinical Research Support Unit (HUB-IDIBELL: Bellvitge University Hospital & Bellvitge Biomedical Research Institute), Bellvitge University Hospital, L'Hospitalet de Llobregat, Barcelona, Spain.

Background: COVID-19 has quickly become a global pandemic with a substantial number of deaths and is a considerable burden for healthcare systems worldwide. Although most cases are paucisymptomatic and limited to the viral infection-related symptoms, some patients evolve to a second phase, with an impaired inflammatory response (cytokine storm) that may lead to acute respiratory distress syndrome and death. This is thought to be caused by increased bradykinin synthesis. Read More

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Hereditary angio-oedema with C1 inhibitor deficiency type I, an unusual stroke mimic.

BMJ Case Rep 2022 Apr 7;15(4). Epub 2022 Apr 7.

Neurology, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain.

Hereditary angio-oedema with C1 inhibitor deficiency (C1-INH-HAE) type I is a rare immune disorder characterised by a deficit of functional C1 esterase inhibitor (C1-INH). Recurrent C1-INH-HAE attacks typically present as generalised skin swelling and abdominal pain. Neurological involvement is very unusual, with a few reports of cephalea and recurrent dizziness. Read More

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Picomolar Sensitivity Analysis of Multiple Bradykinin-Related Peptides in the Blood Plasma of Patients With Hereditary Angioedema in Remission: A Pilot Study.

Front Allergy 2022 11;3:837463. Epub 2022 Feb 11.

Institute of Clinical Pharmacy and Pharmacotherapy, Heinrich Heine Universität Düsseldorf, Düsseldorf, Germany.

Background: Hereditary angioedema (HAE) is a rare autosomal dominant disease; the most well understood forms concern the haplodeficiency of C1 esterase inhibitor (C1INH) and a gain of function mutation of factor XII (FXII). The acute forms of these conditions are mediated by an excessive bradykinin (BK) formation by plasma kallikrein.

Methods: A validated LC-MS/MS platform of picomolar sensitivity developed for the analysis of eleven bradykinin-related peptides was applied to the plasma of HAE-C1INH and HAE-FXII sampled during remission. Read More

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February 2022

Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema.

Front Allergy 2022 17;3:836465. Epub 2022 Mar 17.

Department of Internal Medicine and Hematology, Semmelweis University, Budapest, Hungary.

Background: Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency (C1-INH-HAE) is a rare autosomal dominant disorder, characterized by recurrent, unpredictable edematous symptoms involving subcutaneous, and/or submucosal tissue. C1-INH-HAE may be caused by more than 700 different mutations in the gene encoding C1-INH () that may lead to decreased protein synthesis or to functional deficiency.

Methods: Concentrations of C1-INH, C4, C1q, and anti-C1-INH antibodies, as well as functional C1-INH activity were determined in subjects suffering from edematous symptoms and admitted to the Hungarian Angioedema Center of Reference and Excellence. Read More

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Pregnancy in Patients With Hereditary Angioedema and Normal C1 Inhibitor.

Front Allergy 2022 17;3:846968. Epub 2022 Feb 17.

Clinical Immunology, Faculdade de Medicina, Centro Universitario FMABC, Santo André, Brazil.

Background: HAE with normal C1 inhibitor (HAE-nC1-INH) has been identified as a bradykinin mediated angioedema. Estrogens are one of the main trigger factors. Pregnancy in HAE with C1 inhibitor deficiency showed variable course, however, few reports are available for HAE-nC1-INH. Read More

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February 2022

Co-occurrence between hereditary angioedema and multiple sclerosis: Therapeutic management of both diseases with fingolimod.

Clin Neurol Neurosurg 2022 Mar 28;216:107222. Epub 2022 Mar 28.

Demyelinating Diseases Unit, 1st Department of Neurology, School of Medicine, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Background: Hereditary angioedema (HAE) related to C1 esterase-inhibitor deficiency activates the classic complement pathway and results to edematous crises. Although HAE is usually associated with multiple immunoregulatory disorders, neurologic manifestations are rare.

Case Report: We report on the case study of a 33-year-old man diagnosed with HAE (SERPIN1G gene mutation) and multiple sclerosis (MS), followed up for at least 6 years. Read More

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Long-term prophylaxis with lanadelumab for HAE: authorization for temporary use in France.

Allergy Asthma Clin Immunol 2022 Apr 1;18(1):30. Epub 2022 Apr 1.

Department of Internal Medicine, National Reference Centre for Angioedema (CREAK), INSERM-CNRS-CEA, CHU Grenoble, Université Grenoble Alpes, Joint Unit, 1036, Grenoble, France.

Background: Hereditary angioedema (HAE) is associated with a heavy burden of illness.

Objective: To evaluate use of lanadelumab in a French Authorization for Temporary Use (ATU) program.

Methods: ATU requests were made between October 12, 2018, and March 13, 2019; patients were followed through September 23, 2019. Read More

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Bradykinin-induced angioedema in the emergency department.

Int J Emerg Med 2022 Mar 26;15(1):15. Epub 2022 Mar 26.

McGill University, Montréal, Canada.

Background: Acute airway angioedema commonly occurs through two distinct mechanisms: histamine- and bradykinin-dependent. Although they respond to distinct treatments, these two potentially life-threatening states present similarly. Poor recognition of the bradykinin-dependent pathway leads to treatment errors in the emergency department (ED), despite the availability of multiple pharmacologic options for hereditary angioedema (HAE) and other forms of bradykinin-induced angioedema. Read More

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Practical Management of New-Onset Urticaria and Angioedema Presenting in Primary Care, Urgent Care, and the Emergency Department.

Eric Macy

Perm J 2021 Nov 22;25. Epub 2021 Nov 22.

Allergy Department, Southern California Permanente Medical Group, Kaiser Permanente Southern California, San Diego, CA.

A new episode of urticaria and/or angioedema can be an anxiety-inducing event for both the patient and the physician(s) seeing them in primary care, urgent care, or the emergency department. These events are commonly mistaken for "allergic" reactions and often mistreated. The most common causes of new onset urticaria in older children and adults, with or without angioedema, and normal vital signs or hypertension, are post-infection or acute idiopathic urticaria. Read More

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November 2021

Comorbidities in hereditary angioedema-A population-based cohort study.

Clin Transl Allergy 2022 Mar;12(3):e12135

Respiratory Medicine & Allergology, Department of Clinical Sciences Lund, Lund University and Skåne University Hospital, Lund, Sweden.

Background: In hereditary angioedema (HAE), low levels (type 1) or defect in function (type 2) of the serine-protease inhibitor C1 Inhibitor protein results in activation of the classical pathway of the complement system as well as the contact system. Here, we investigated the risk of comorbidities in HAE.

Methods: Individuals with HAE (n = 239; identified through a physician made diagnosis) and a control cohort from the general population (n = 2383; matched for age, gender, and county of residence) were compared with the Swedish inpatient, cause of death, cancer, and prescription registers. Read More

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Acquired Angioedema due to C1-Inhibitor Deficiency: A Challenging Condition.

Int Arch Allergy Immunol 2022 24;183(5):572-577. Epub 2022 Mar 24.

Clinical Immunology, Faculdade de Medicina, Centro Universitário FMABC, Santo Andre, Brazil.

Background: Acquired deficiency of C1 inhibitor (AAE-C1-INH) is a very rare cause of recurrent angioedema, with few cases reported in the literature. We aimed to describe a series of patients with AAE-C1-INH who were diagnosed and received care at angioedema reference centers in Brazil, affiliated to the Brazilian Group of Studies on Hereditary Angioedema.

Methods: Fourteen patients from 8 Brazilian Angioedema Reference Centers, diagnosed with AAE-C1-INH, were included in this study. Read More

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Clinical features of hereditary angioedema and warning signs (H4AE) for its identification.

Clinics (Sao Paulo) 2022 19;77:100023. Epub 2022 Mar 19.

Divisão de Imunologia Clinica e Alergia, Faculdade de Medicina (FMUSP), Universidade de São Paulo, São Paulo, SP, Brazil.

Objectives: The study describes a case series of hereditary angioedema with C1 Inhibitor Deficiency (C1INH-HAE) in order to corroborate six clinical warning signs "HAAAAE (H4AE)" to enable early identification of this disease.

Methods: The authors analyzed the C1INH-HAE cohort to analyze the clinical aspects of the present study's patients and corroborate the six clinical warning signs of the Hereditary Angioedema Brazilian Guidelines. Data regarding demographics, the onset of disease, time to diagnosis, frequency of attacks per year, organs involved, triggers, crisis duration and their outcomes, and disease treatment were collected. Read More

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How satisfactory is on-demand icatibant from the patients' perspective in real life?

Allergy Asthma Proc 2022 03;43(2):148-154

Patients' satisfaction is important for the success of the management of chronic diseases. Our aim was to evaluate the satisfaction level of the patients with hereditary angioedema (HAE) for icatibant treatment. Patients with HAE C1 esterase inhibitor (C1-INH) were evaluated by using a questionnaire that included details of their icatibant-treated attacks. Read More

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Why does it take so long for rare disease patients to get an accurate diagnosis?-A qualitative investigation of patient experiences of hereditary angioedema.

PLoS One 2022 18;17(3):e0265847. Epub 2022 Mar 18.

Department of Biomedical Ethics and Public Policy, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan.

Introduction: Many patients with rare diseases experience a diagnostic delay. Although several quantitative studies have been reported, few studies have used a qualitative approach to directly examine how patients with rare disease obtain a diagnosis and why it takes many years. In this study, we focused on hereditary angioedema (HAE), which has been reported to have long diagnostic delays, despite the knowledge that not having an accurate diagnosis can cause life-threatening problems. Read More

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Risk Factors for Severe COVID-19 and Hospital Admission in Patients With Inborn Errors of Immunity - Results From a Multicenter Nationwide Study.

Front Immunol 2022 28;13:835770. Epub 2022 Feb 28.

Institute of Clinical Immunology and Allergy, Faculty of Medicine in Hradec Kralove, University Hospital Hradec Kralove, Charles University, Hradec Kralove, Czechia.

Despite the progress in the understanding how COVID-19 infection may impact immunocompromised patients, the data on inborn errors of immunity (IEI) remain limited and ambiguous. Therefore, we examined the risk of severe infection course and hospital admission in a large cohort of patients with IEI. In this multicenter nationwide retrospective survey-based trial, the demographic, clinical, and laboratory data were collected by investigating physicians from 8 national referral centers for the diagnosis and treatment of IEI using a COVID-19-IEI clinical questionnaire. Read More

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An Antisense Oligonucleotide for Hereditary Angioedema.

N Engl J Med 2022 03;386(11):1083-1085

From the Department of Immunology, Auckland City Hospital (H.J.L., R.A.), and the Departments of Medicine (H.J.L.) and Molecular Medicine and Pathology (R.A.), University of Auckland - both in Auckland, New Zealand.

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Case 8-2022: A 54-Year-Old Woman with Episodes of Swelling.

N Engl J Med 2022 Mar;386(11):1071-1079

From the Departments of Medicine (A.B., N.A.P., R.S., M.R.M.), Radiology (R.G.), and Molecular Biology (R.S.), Massachusetts General Hospital, and the Departments of Medicine (A.B., N.A.P., R.S., M.R.M.), Radiology (R.G.), and Molecular Biology (R.S.), Harvard Medical School - both in Boston.

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Inhibition of Prekallikrein for Hereditary Angioedema.

N Engl J Med 2022 03;386(11):1026-1033

From the Department of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam (L.M.F., D.M.C.); the Division of Rheumatology, Allergy, and Immunology, University of California, San Diego, La Jolla (M.A.R.), Ionis Pharmaceuticals, Carlsbad (L.B., V.J.A., K.B.N., A.R., B.F.B., C.N., A.R.M., E.S.), and the Division of Allergy, Immunology, and Rheumatology, University of California, Los Angeles, Los Angeles (R.T.) - all in California; the Department of Internal Medicine, Division of Immunology-Allergy Section and the Bernstein Clinical Research Center, University of Cincinnati College of Medicine, Cincinnati (J.A.B.); the Midwest Immunology Clinic, Plymouth, MN (J.R.); the Department of Medicine and Pediatrics, Penn State Health Allergy, Asthma, and Immunology, Hershey, PA (T.C.); Asthma and Allergy Research Associates, Dallas (W.R.L.); and Medical Research of Arizona, Scottsdale (M.E.M.).

Background: Hereditary angioedema is characterized by recurrent and unpredictable swellings that are disabling and potentially fatal. Selective inhibition of plasma prekallikrein production by antisense oligonucleotide treatment (donidalorsen) may reduce the frequency of attacks and the burden of disease.

Methods: In this phase 2 trial, we randomly assigned, in a 2:1 ratio, patients with hereditary angioedema with C1 inhibitor deficiency to receive four subcutaneous doses of either donidalorsen (80 mg) or placebo, with one dose administered every 4 weeks. Read More

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Pharmacological suppression of the kallikrein kinin system with KVD900: An orally available plasma kallikrein inhibitor for the on-demand treatment of hereditary angioedema.

Clin Exp Allergy 2022 Mar 12. Epub 2022 Mar 12.

KalVista Pharmaceuticals, Cambridge, Massachusetts, USA.

Background: Hereditary angioedema (HAE) is a rare genetic disease that leads to recurrent episodes of swelling and pain caused by uncontrolled plasma kallikrein (PKa) activity. Current guidelines recommend ready availability of on-demand HAE treatments that can be administered early upon attack onset. This report describes the pharmacological and pharmacodynamic properties of the novel oral small-molecule PKa inhibitor KVD900 as a potential on-demand treatment for HAE. Read More

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Psychometric study of the SF-36v2 in hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE).

Orphanet J Rare Dis 2022 03 2;17(1):88. Epub 2022 Mar 2.

Allergy Department, Hospital Universitario La Paz, Madrid, Spain.

Background: The generic 36-item Short-Form Health Survey (SF-36v2) has been used to assess health related quality of life in adult patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) even though it has not yet been validated for use in this specific disease.

Objective: This study aims to validate the SF-36v2 for use in adult patients with C1-INH-HAE.

Results: There was a very low item non-response rate (1-3. Read More

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Prophylactic use of an anti-activated factor XII monoclonal antibody, garadacimab, for patients with C1-esterase inhibitor-deficient hereditary angioedema: a randomised, double-blind, placebo-controlled, phase 2 trial.

Lancet 2022 03 24;399(10328):945-955. Epub 2022 Feb 24.

CSL Behring, King of Prussia, PA, USA; Aro Biotherapeutics, Philadelphia, PA, USA.

Background: Hereditary angioedema is associated with dysregulation of the kallikrein-kinin system. Factor XII (FXII) is a key initiator of the kallikrein-kinin system, which produces bradykinin, a central mediator of angioedema. Garadacimab (CSL Behring) is a first-in-class, fully human, immunoglobulin G4 monoclonal antibody targeting activated FXII, intended to prevent attacks in patients with C1-esterase inhibitor-deficient hereditary angioedema (HAE-C1-INH). Read More

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Prophylaxis with anti-activated factor XII for hereditary angioedema.

Lancet 2022 03 24;399(10328):889-890. Epub 2022 Feb 24.

Department of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, Netherlands.

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