2,759 results match your criteria Hereditary Angioedema


Every angioedema following urticaria is not histamine-mediated.

Ann Allergy Asthma Immunol 2020 Jul 1. Epub 2020 Jul 1.

Istanbul University, Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Immunology and Allergic Diseases, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.anai.2020.06.035DOI Listing

Patient involvement in preparing health research peer-reviewed publications or results summaries: a systematic review and evidence-based recommendations.

Res Involv Engagem 2020 24;6:34. Epub 2020 Jun 24.

Envision the Patient - Envision Pharma Group, Suite 5.11, 5th Floor, 1 Lyric Square, London, W6 0NB UK.

Background: There are increasing calls for patient involvement in sharing health research results, but no evidence-based recommendations to guide such involvement. Our objectives were to: (1) conduct a systematic review of the evidence on patient involvement in results sharing, (2) propose evidence-based recommendations to help maximize benefits and minimize risks of such involvement and (3) conduct this project with patient authors.

Methods: To avoid research waste, we verified that no systematic reviews were registered or published on this topic. Read More

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http://dx.doi.org/10.1186/s40900-020-00190-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313171PMC

Study of angiopoietin and plasminogen genes in hereditary angioedema.

Rev Assoc Med Bras (1992) 2020 Apr;66(4):502-506

. Programa de Pós-Graduação em Medicina Interna e Ciências da Saúde. Complexo Hospital de Clínicas,Universidade Federal do Paraná - UFPR, Curitiba, PR, Brasil.

Objective: To investigate the presence of the Angiopoietin 1 (ANGPT1) and Plasminogen (PLG) mutations in patients with Hereditary Angioedema (HAE) and normal C1 esterase inhibitor (C1-INH) levels, who do not harbor the F12 gene mutation.

Methods: Patients clinically diagnosed with HAE but without C1-INH deficiency or dysfunction and F12 gene mutation were evaluated. DNA extraction, quantification, and dilution were performed at a concentration of 100 ng/µL, followed by a DNA amplification (PCR) for molecular evaluation of exon 2 of the ANGPT1 gene and exon 9 of the PLG gene for identification of mutations c. Read More

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http://dx.doi.org/10.1590/1806-9282.66.4.502DOI Listing

An Unusual Presentation of Hereditary Angioedema Type II with Amnesia, Poor Concentration and Headache.

Ann Allergy Asthma Immunol 2020 Jun 18. Epub 2020 Jun 18.

Department of Pediatrics, University of Illinois College of Medicine, Chicago, IL 60612; Department of Medicine, University of Illinois College of Medicine, Chicago, IL 60612.

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http://dx.doi.org/10.1016/j.anai.2020.06.024DOI Listing

Hereditary Alpha-Tryptasemia: UK Prevalence and variability in disease expression.

J Allergy Clin Immunol Pract 2020 Jun 15. Epub 2020 Jun 15.

Lydia Becker Institute of Immunology and Inflammation, Division of Infection, Immunity & Respiratory Medicine, School of Biological Sciences, University of Manchester, UK. Electronic address:

Background: Hereditary Alpha-Tryptasemia (HAT) is a genetic trait caused by an increased alpha-tryptase TPSAB1 gene copy number. Basal serum mast cell tryptase is typically ≥8.0ng/ml. Read More

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http://dx.doi.org/10.1016/j.jaip.2020.05.057DOI Listing

Current status of the management of hereditary angioedema in China: a patient-based, cross-sectional survey.

Eur J Dermatol 2020 Apr;30(2):169-176

Department of Allergy, Chinese Academy of Medical Sciences & Peking Union Medical College Hospital, Beijing 100730.

Background: Hereditary angioedema (HAE) is a rare, inherited disorder characterized by unpredictable and recurrent cutaneous and mucosal oedema.

Objectives: This study aimed to identify the current status of HAE management in China.

Materials And Methods: An internet-based survey was sent to 129 patients with type 1 and 2 HAE diagnosed between 1983 and 2017; a total of 107 patients provided complete disease management information. Read More

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http://dx.doi.org/10.1684/ejd.2020.3758DOI Listing

Association Between Self-Reported Dental Hygiene Practices and Dental Procedure-Related Recurrent Angioedema Attacks in HAE Subjects: A Multi-Center Survey.

J Allergy Clin Immunol Pract 2020 Jun 10. Epub 2020 Jun 10.

Division of Immunology/Allergy, Department of Internal Medicine, University of Cincinnati College of Medicine, Cincinnati, OH. Electronic address:

Background: Hereditary angioedema (HAE) symptoms may be triggered by dental procedures thereby complicating dental care in individuals affected by the condition.

Objective: This study investigated the self-perceived dental care needs, perceived susceptibility to acute angioedema (AE) attacks after dental procedures and dental care behavior of HAE patients.

Methods: A self-administered semi-structured web-based questionnaire was distributed to 250 adult HAE patients (Type-1 or -2; 88% Type-1) and 256 matched non-HAE controls. Read More

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http://dx.doi.org/10.1016/j.jaip.2020.05.041DOI Listing

Pregnancy-Induced Exacerbation of Hereditary Angioedema in a Multiparous Caucasian Female.

Cureus 2020 May 7;12(5):e8006. Epub 2020 May 7.

Allergy and Immunology, Kansas University Medical Center, Overland Park, USA.

Hereditary angioedema (HAE) manifests due to a deficiency of the C1-esterase inhibitor and can present with life-threatening swelling of multiple body regions such as the face, hands, upper respiratory tract, and intestinal walls. The present case describes the manifestation and symptomatic exacerbation of HAE in a multiparous Caucasian female. Very few trials and cases are available on HAE exacerbations during pregnancy, and our case describes the timeline and treatment in order to add to the clinical awareness of the disease. Read More

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http://dx.doi.org/10.7759/cureus.8006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279689PMC

Hereditary angioedema in children and adolescents - A consensus update on therapeutic strategies for German-speaking countries.

Pediatr Allergy Immunol 2020 Jun 10. Epub 2020 Jun 10.

Allergology Unit, Department of Dermatology, University Hospital, Zürich, Switzerland.

Background/methods: At a consensus meeting in August 2018, pediatricians and dermatologists from German-speaking countries discussed the therapeutic strategy for the treatment of pediatric patients with types I and II hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH) for Germany, Austria, and Switzerland, taking into account the current marketing approval status. HAE-C1-INH is a rare disease that usually presents during childhood or adolescence with intermittent episodes of potentially life-threatening angioedema. Diagnosis as early as possible and an optimal management of the disease are important to avoid ineffective therapies and to properly treat swelling attacks. Read More

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http://dx.doi.org/10.1111/pai.13309DOI Listing

Proteomic Analysis of the Acid-Insoluble Fraction of Whole Saliva from Patients Affected by Different Forms of Non-histaminergic Angioedema.

J Clin Immunol 2020 Jun 10. Epub 2020 Jun 10.

Dept of Life and Environmental Sciences, University of Cagliari, 09042, Monserrato, CA, Italy.

We analyzed by bidimensional electrophoresis the acid-insoluble fraction of saliva from three classes of angioedema patients and a healthy control group, highlighting significant variations of several normalized spot volumes. Characterization of the corresponding proteins was performed by in-gel tryptic digestion of the spots, followed by high-resolution HPLC-ESI-MS/MS analysis of tryptic mixtures. By this strategy, 16 differentially-expressed proteins among two or more groups were identified. Read More

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http://dx.doi.org/10.1007/s10875-020-00802-wDOI Listing

Hereditary angioedema C1-esterase inhibitor replacement therapy and coexisting autoimmune disorders: findings from a claims database.

Allergy Asthma Clin Immunol 2020 27;16:42. Epub 2020 May 27.

AMF Consulting Inc., Los Angeles, CA USA.

In this letter to the editor, we present results of claims data analysis. This claims data analysis supports a hypothesis that in patients with hereditary angioedema due to C1-esterase inhibitor (C1-INH) deficiency, the occurrence and/or symptomatology of coexisting autoimmune disease may be positively influenced by a replacement therapy with plasma derived C1-INH. Read More

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http://dx.doi.org/10.1186/s13223-020-00439-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254637PMC

Co-occurrence between C1 esterase inhibitor deficiency and autoimmune disease: a systematic literature review.

Allergy Asthma Clin Immunol 2020 27;16:41. Epub 2020 May 27.

CSL Behring, Marburg, Germany.

Background: Hereditary angioedema (HAE) is caused by a SERPING1 gene defect resulting in decreased (Type I) or dysfunctional (Type II) C1 esterase inhibitor (C1-INH). The prevalence of autoimmune diseases (ADs) in patients with HAE appears to be higher than the general population. A systematic literature review was conducted to examine the co-occurrence between HAE and ADs. Read More

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http://dx.doi.org/10.1186/s13223-020-00437-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254644PMC

A lesson from a saboteur: High-MW kininogen impact in coronavirus-induced disease 2019.

Br J Pharmacol 2020 Jun 4. Epub 2020 Jun 4.

Department of Pharmacy (DIFARMA), University of Salerno, Fisciano, Italy.

The newly identified coronavirus SARS-CoV-2 that spread from China is causing the pandemic COVID-19 with a fatality rate from 5-15%. It causes fever, cough, myalgia, fatigue up to dyspnoea, responsible for hospitalization and artificial oxygenation. SARS-CoV-2 infects human cells using ACE2, the transmembrane protease serine 2 (TMPRSS2) and the SARS-CoV-2 main protease (M ). Read More

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http://dx.doi.org/10.1111/bph.15154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7300552PMC

Thromboembolic Risk of C1 Esterase Inhibitors: A Systematic Review on Current Evidence.

Expert Rev Clin Pharmacol 2020 Jun 4:1-8. Epub 2020 Jun 4.

Ben and Maytee Fisch College of Pharmacy, The University of Texas , Tyler, TX, USA.

Introduction: The exact risk of developing a thromboembolic event (TEE) while using complement 1 esterase inhibitors (C1-INHs) is currently undetermined for patients with hereditary angioedema (HAE). This systematic review aimed to define the potential risk of TEEs from these agents.

Areas Covered: This evaluation covers publications examining or mentioning the risk of TEEs in association with C1-INHs. Read More

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http://dx.doi.org/10.1080/17512433.2020.1776110DOI Listing

C1-inhibitor Deficiency Induces Myositis-like Symptoms Via the Deposition of the Membrane Attack Complex in the Muscle.

Intern Med 2020 May 26. Epub 2020 May 26.

Department of Neurology, Osaka University Graduate School of Medicine, Japan.

We herein report a 56-year-old Japanese woman who had been diagnosed with hereditary angioedema. She experienced progressing muscle weakness and pain in the upper and lower extremities. Blood tests revealed a marked increase in creatine kinase levels; however, myositis-specific autoantibodies were not detected. Read More

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http://dx.doi.org/10.2169/internalmedicine.4601-20DOI Listing

Lanadelumab demonstrates rapid and sustained prevention of hereditary angioedema attacks.

Allergy 2020 May 26. Epub 2020 May 26.

Allergy and Asthma Research Associates, Dallas, TX, USA.

Background: Lanadelumab demonstrated efficacy in preventing hereditary angioedema (HAE) attacks in the phase 3 HELP Study.

Objective: To assess time to onset of effect and long-term efficacy of lanadelumab, based on exploratory findings from the HELP Study.

Methods: Eligible patients with HAE type I/II received lanadelumab 150 mg every 4 weeks (q4wks), 300 mg q4wks, 300 mg q2wks, or placebo. Read More

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http://dx.doi.org/10.1111/all.14416DOI Listing

Long-term Safety and Efficacy of Subcutaneous C1-Inhibitor in Older Patients With Hereditary Angioedema.

Ann Allergy Asthma Immunol 2020 May 20. Epub 2020 May 20.

University of California, San Diego School of Medicine, La Jolla, California, USA.

Background: Patients ≥65 years old with hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency may have an altered response to treatment and be at higher risk for treatment-related adverse events (AEs) due to comorbidities and polypharmacy.

Objective: Investigate the safety and efficacy of subcutaneous (SC) C1-INH in patients ≥65 years old treated in an open-label extension of a phase 3 trial.

Methods: Eligible patients (≥4 attacks over 2 consecutive months) were randomized to receive twice-weekly C1-INH (SC) 40 IU/kg or 60 IU/kg for 52 to 140 weeks. Read More

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http://dx.doi.org/10.1016/j.anai.2020.05.015DOI Listing

Novel homozygous variants in the SERPING1 gene in two Turkish families with hereditary angioedema of recessive inheritance.

Immunol Cell Biol 2020 May 23. Epub 2020 May 23.

Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain, and Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain.

Hereditary angioedema due to deficiency of the C1-inhibitor (HAE-C1INH; MIM#106100) is a rare autosomal disorder and affected individuals are generally heterozygous for dominant negative variants in the SERPING1 gene. Homozygosity for SERPING1 pathogenic variants was long considered to be embryonically lethal; however, five non-related families with a recessive HAE pattern have been described in the last decade. In this report, we functionally characterized two newly reported non-related, consanguineous families with a recessive presentation of HAE due to SERPING1 variants in the reactive center loop (RCL) (Family D; S438F) and gate (Family A; I379T) regions. Read More

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http://dx.doi.org/10.1111/imcb.12362DOI Listing
May 2020
4.147 Impact Factor

[EFFICACY, PHARMACOKINETICS, PHARMACODYNAMICS, AND SAFETY OF INTRAVENOUS C1 INHIBITOR FOR LONG-TERM PROPHYLAXIS AND TREATMENT OF BREAKTHROUGH ATTACKS IN JAPANESE SUBJECTS WITH HEREDITARY ANGIOEDEMA: A PHASE 3 OPEN-LABEL STUDY].

Arerugi 2020 ;69(3):192-203

Department of Dermatology, Graduate School of Biomedical and Health Sciences, Hiroshima University.

Background: Hereditary angioedema (HAE) is associated with recurrent, painful, and potentially lifethreatening attacks characterized by swelling of subcutaneous or submucosal tissues.

Purpose: To investigate the efficacy, safety, pharmacokinetics, and pharmacodynamics of repeat-use C1 inhibitor (C1-INH) replacement therapy for long-term prophylaxis and treatment of breakthrough attacks in the management of Japanese patients with HAE type I or II.

Methods: An open-label, single-arm, Phase 3 study was conducted in Japanese patients with HAE (NCT02865720). Read More

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http://dx.doi.org/10.15036/arerugi.69.192DOI Listing
January 2020

Patterns of C1-Inhibitor/Plasma Serine Protease Complexes in Healthy Humans and in Hereditary Angioedema Patients.

Front Immunol 2020 5;11:794. Epub 2020 May 5.

Research Laboratory, 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.

C1-inhibitor (C1-INH) is an important regulator of the complement, coagulation, fibrinolytic and contact systems. The quantity of protease/C1-INH complexes in the blood is proportional to the level of the activation of these four cascade-like plasma enzyme systems. Parallel determination of C1-INH-containing activation complexes could be important to understand the regulatory role of C1-INH in diseases such as hereditary angioedema (HAE) due to C1-INH deficiency (C1-INH-HAE). Read More

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http://dx.doi.org/10.3389/fimmu.2020.00794DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7214733PMC

Self-Management Plans in Patients with Hereditary Angioedema: Strategies, Outcomes and Integration into Clinical Care.

J Asthma Allergy 2020 30;13:153-158. Epub 2020 Apr 30.

Immunology & Allergy Unit, Department of Medicine, Campbelltown Hospital, Western Sydney University, Sydney, Campbelltown NSW 2560, Australia.

Chronic conditions, whether genetic or acquired, impose a significant burden on health care systems with high utilisation of hospital and emergency department resources. Self-management is increasingly recognised as one of the pillars in models of care for those with long-term medical conditions. Hereditary angioedema (HAE) is a rare genetic disorder inherited in an autosomal dominant fashion. Read More

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http://dx.doi.org/10.2147/JAA.S200900DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198399PMC

Pharmacokinetics, Pharmacodynamics, and Exposure-Response of Lanadelumab for Hereditary Angioedema.

Clin Transl Sci 2020 May 14. Epub 2020 May 14.

Shire, a Takeda company, Cambridge, Massachusetts, USA.

Hereditary angioedema (HAE) with C1 inhibitor deficiency is a rare disorder characterized by unpredictable, potentially life-threatening recurrent angioedema attacks. Lanadelumab is a fully human monoclonal antibody with selective binding to active plasma kallikrein, and prevents the formation of cleaved high molecular weight kininogen (cHMWK) and bradykinin, thereby preventing HAE attacks. The clinical pharmacology of lanadelumab was characterized following subcutaneous administration in 257 subjects (24 healthy subjects and 233 patients with HAE). Read More

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http://dx.doi.org/10.1111/cts.12806DOI Listing

Real-world cohort study of adult and pediatric patients treated for hereditary angioedema in the United States.

Allergy Asthma Proc 2020 May;41(3):172-182

Shire, a Takeda company, Division of Global Evidence and Outcomes, Lexington, Massachusetts.

There is limited real-world evidence on hereditary angioedema (HAE) patient characteristics and health-care resource utilization (HCRU); in addition, pediatric patients have been described in small cohorts. To describe patient characteristics, treatment patterns, and HCRU among adult and pediatric patients treated for HAE in a large U.S. Read More

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http://dx.doi.org/10.2500/aap.2020.41.200011DOI Listing

Idiopathic Angioedema: Current Challenges.

J Asthma Allergy 2020 17;13:137-144. Epub 2020 Apr 17.

National Reference Center for Angioedema (CREAK), Department of Internal Medicine/Clinical Immunology, Grenoble Alpes University Hospital, Grenoble, France.

The etiological diagnosis of isolated recurrent angioedema poses problems because it must often be done urgently. Angioedema secondary to nonspecific mast cell activation (MC-AE) is the most frequent form and is usually mild. Bradykinin mediated angioedema (BK-AE) is rarer but potentially fatal in the absence of the correct treatment. Read More

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http://dx.doi.org/10.2147/JAA.S205709DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7173836PMC

A first of its kind quantitative functional C1-esterase inhibitor lateral flow assay for hereditary angioedema point-of-care diagnostic testing.

Int Immunopharmacol 2020 Jun 30;83:106526. Epub 2020 Apr 30.

DCN Diagnostics, Carlsbad, CA 92011, USA.

Hereditary Angioedema (HAE) is a rare, autosomal dominant disease caused by mutations in SERPING1 gene leading to dysfunction/deficiency of C1-esterase inhibitor (C1-INH) protein and subsequent dysregulation of the contact system and bradykinin overproduction. As functional C1-INH (fC1-INH) levels are reduced in HAE types I and II (HAE-I/II), a specific, sensitive and accessible rapid diagnostic method to quantitate fC1-INH is crucial in diagnosing HAE-I/II. Previously, we developed/validated methods to detect fC1-INH levels in human plasma based on functional binding to C1s or FXIIa for C1-INH-based therapies. Read More

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http://dx.doi.org/10.1016/j.intimp.2020.106526DOI Listing

Characteristics of patients with C1 esterase inhibitor deficiency: a single center study.

Eur Ann Allergy Clin Immunol 2020 04 30. Epub 2020 Apr 30.

Department of Pediatrics, Division of Pediatric Immunology, Hacettepe University Medical School, Ankara, Turkey.

Summary: Hereditary angioedema (HAE) is a primary complement factor deficiency, characterized by recurrent submucosal/subcutaneous swelling episodes. SERPING1 gene defects encoding C1 esterase inhibitor (C1INH) are responsible from the disease. Fifteen patients with HAE are retrospectively evaluated in this study. Read More

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http://dx.doi.org/10.23822/EurAnnACI.1764-1489.146DOI Listing

Ultrasound findings in an abdominal crisis of a patient with hereditary angioedema.

Rev Esp Enferm Dig 2020 May;112(5):418

Alergia , Hospital Universitario La Paz, España.

ereditary Angioedema (HAE) is a rare autosomal-dominant disease caused by serum C1 inhibitor deficiency. This deficiency leads to an up-regulation of complement, activating the bradykinin pathway and causing vascular permeability and subsequent mucosal edema. Abdominal angioedema is a less recognized type of angioedema and the clinical signs may range from subtle, diffuse abdominal pain and nausea, to overt peritonitis. Read More

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http://dx.doi.org/10.17235/reed.2020.6469/2019DOI Listing

Commentary: Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics.

Authors:
Roger Colobran

Front Genet 2020 3;11:304. Epub 2020 Apr 3.

Immunology Division, Department of Cell Biology, Physiology and Immunology, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute, Autonomous University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.3389/fgene.2020.00304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7147440PMC

Life-threatening laryngeal attacks in hereditary angioedema patients.

Otolaryngol Pol 2020 Mar;74(2):1-5

Zakład Alergologii Klinicznej i Środowiskowej, Uniwersytet Jagielloński Collegium Medicum w Krakowie.

Background: Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1INH) is a rare genetic disease that runs in the family. As a result of the disease, acute swellings of the subcutaneous tissue and mucous membranes of the digestive and respiratory systems, including the larynx, occur. Any attack of the disease involving the throat and larynx is particularly dangerous and requires knowledge of clinical determinants of the disease and its proper management. Read More

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http://dx.doi.org/10.5604/01.3001.0014.0619DOI Listing

Nailfold Videocapillaroscopic Findings in Bradykinin-Mediated Angioedema.

J Investig Allergol Clin Immunol 2020 04 17. Epub 2020 Apr 17.

Department of Translational Medical Sciences and Center for Basic and Clinical Immunology Research (CISI), University of Naples Federico II, Naples, Italy.

Background And Objective: Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) and acquired angioedema related to ACE inhibitors (ACEI-AAE) are types of bradykinin-mediated angioedema without wheals characterized by recurrent swelling episodes. Recent evidence suggests that a state of "vascular preconditioning" predisposes individuals to attacks, but no data are available on the possible structural alterations of the vessels. Objective: This study aims at evaluating the features of the nailfold capillaries to highlight possible structural anomalies in patients affected by C1-INH-HAE in comparison with the healthy population and ACEI-AAE patients in comparison with hypertensive controls. Read More

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http://dx.doi.org/10.18176/jiaci.0524DOI Listing

Hereditary angioedema: the challenges of cross-border family investigation and treatment.

BMJ Case Rep 2020 Apr 14;13(4). Epub 2020 Apr 14.

Department of Clinical Genetics, Odense University Hospital, Odense, Denmark

Hereditary angioedema (HAE) is a rare genetic disorder characterised by recurrent swellings involving subcutaneous and submucosal tissue that can be potentially life threatening in cases involving the upper airway. In this case report, we present a Syrian refugee family with HAE who have lived in Denmark since 2014. The index patient is an 8-year-old girl diagnosed with HAE after being hospitalised in Denmark with an angioedema attack. Read More

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http://dx.doi.org/10.1136/bcr-2019-231906DOI Listing

Advances in Hereditary Angioedema: The Prevention of Angioedema Attacks With Subcutaneous C1-Inhibitor Replacement Therapy.

J Infus Nurs 2020 May/Jun;43(3):134-145

AARA Research Center, Dallas, Texas (Dr Lumry); US HAEA Angioedema Center at University of California San Diego, San Diego, California (Ms Templeton); CSL Behring, King of Prussia, Pennsylvania (Dr Omert); University of California Irvine School of Medicine, Orange, California (Dr Levy). William Lumry, MD, is in private practice in Dallas, Texas, treating adults and children with allergic diseases and asthma. He actively participates in clinical research projects involving new treatments for asthma, allergic and immune deficiency diseases, and hereditary angioedema in his role as medical director of AARA Research Center. He is also clinical professor of internal medicine at the University of Texas Southwestern Medical School in Dallas and teaches at Parkland Memorial Hospital in Dallas. Dr Lumry is president of the Texas Allergy, Asthma and Immunology Society and a fellow of the American Academy of Allergy, Asthma and Immunology, the American College of Allergy, Asthma and Immunology, and the American College of Physicians. He is also a member of the US Hereditary Angioedema Association Medical Advisory Board on the panels responsible for the Hereditary Angioedema International Working Group, International Consensus, and World Allergy Organization hereditary angioedema consensus documents. Teri Templeton, LVN, was the nurse navigator and senior nurse supervisor of the US HAEA Angioedema Center at University of California San Diego, where she also served as the lead nurse on all clinical and translational research. As a public speaker and nurse educator, and through service on advisory boards, she worked to reduce the time to diagnosis and bring awareness to health care professionals on the signs and symptoms of hereditary angioedema. Laurel Omert, MD, is currently chief medical officer at Hemanext in Lexington, Massachusetts, and a staff surgeon and intensivist at Albert Einstein Medical Center in Philadelphia. She served as medical director at CSL Behring for specialty products that included C1-INH(SC) and C1-INH(IV) during the development of this manuscript. Donald Levy, MD, is a professor of medicine at University of California Irvine School of Medicine in Orange, California. He is very active in teaching students, residents, and fellows. He has a special interest in hereditary angioedema and conducts research in this field.

Hereditary angioedema (HAE) is a debilitating condition caused by a functional C1-inhibitor (C1-INH) deficiency and characterized clinically by episodes of subcutaneous or submucosal swelling. C1-INH replacement is highly effective for preventing HAE attacks and can improve health-related quality of life. Once available only for intravenous use, C1-INH is now available as a subcutaneous formulation for self-administration, shown to provide sustained plasma levels of C1-INH and reducing the monthly median HAE attack rate by 95% versus placebo in the phase 3 COMPACT study. Read More

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http://dx.doi.org/10.1097/NAN.0000000000000365DOI Listing

[Hereditary angioedema due to C1-esterase inhibitor deficiency : novel approaches].

Rev Med Suisse 2020 Apr;16(689):675-678

Service d'immunologie et allergie, CHUV, 1011 Lausanne.

Hereditary angioedema type 1 and 2 are due to a deficiency in C1--esterase inhibitor. This molecule inhibits the generation of bradykinin, a potent inflammatory mediator that increases vascular permeability. Upon accumulation of bradykinin, patients affected develop painful subcutaneous or submucosal edemas that last for several days. Read More

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Designation of Autoinflammatory Skin Manifestations With Specific Genetic Backgrounds.

Authors:
Nobuo Kanazawa

Front Immunol 2020 18;11:475. Epub 2020 Mar 18.

Department of Dermatology, Wakayama Medical University, Wakayama, Japan.

"Autoinflammatory disease (AiD)" has first been introduced in 1999 when the responsible gene for the familial Hibernean fever or autosomal dominant-type familial Mediterranean fever-like periodic fever syndrome was reportedly identified as . Linked with the rapid research progress in the field of innate immunity, "autoinflammation" has been designated for dysregulated innate immunity in contrast to "autoimmunity" with dysregulated acquired immunity. As hereditary periodic fever syndromes represent the prototype of AiD, monogenic systemic diseases are the main members of AiD. Read More

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http://dx.doi.org/10.3389/fimmu.2020.00475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093487PMC

Experience with Intravenous Plasma-Derived C1-Inhibitor in Pregnant Women with Hereditary Angioedema: A Systematic Literature Review.

J Allergy Clin Immunol Pract 2020 Jun 3;8(6):1875-1880.e3. Epub 2020 Apr 3.

Department of Internal Medicine, Section of Allergy and Clinical Immunology, Yale University School of Medicine, New Haven, Conn.

Consensus guidelines recommend plasma-derived C1 inhibitor (C1-INH) as first-line treatment in pregnant women with hereditary angioedema (HAE). We conducted a systematic review of the literature that describes experience with plasma-derived C1-INH during pregnancy. A literature search of PubMed was conducted in November 2018 using variants of "hereditary angioedema" and "pregnancy. Read More

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http://dx.doi.org/10.1016/j.jaip.2020.03.009DOI Listing

Vibratory urticaria-angioedema: further insights into the response patterns to vortex provocation test.

J Eur Acad Dermatol Venereol 2020 Apr 1. Epub 2020 Apr 1.

Dermatology Dept. Hospital del Mar. IMIM, Universitat Autònoma, Barcelona, Spain.

Vibratory urticaria/angioedema refers to evanescent reactions elicited by vibratory stimuli. In 1972, Patterson coined the term "vibratory angioedema", to name a hereditary variant involving one family showing angioedema features. It also applies to sporadic cases. Read More

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http://dx.doi.org/10.1111/jdv.16396DOI Listing

A focus on the use of subcutaneous C1-inhibitor for treatment of hereditary angioedema.

Expert Rev Clin Immunol 2020 May 6;16(5):451-455. Epub 2020 Apr 6.

Department of Allergy and Immunology, Penn State University , State College, PA, USA.

Introduction: HAE is a very debilitating disease that causes significant distress for patients not only during an acute attack but also constant fear for a subsequent attack. It is important to address long-term prophylactic (LTP) therapy to prevent attacks, decrease morbidity and increase the quality of life. When discussing LTP, the drug burden, convenience and efficacy must be taken into account. Read More

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http://dx.doi.org/10.1080/1744666X.2020.1750953DOI Listing

[Use of simulation in healthcare for therapeutic training of the parents of children with hereditary angioedema].

Ann Dermatol Venereol 2020 May 24;147(5):340-349. Epub 2020 Mar 24.

Service de dermatologie, CHU d'Angers, 4, rue Larrey, 49933 Angers cedex 9, France; Centre de simulation All'Sims, CHU d'Angers, 4, rue Larrey, 49933 Angers cedex 9, France. Electronic address:

Background: C1INH-deficiency hereditary angioedema (HAE) is characterized by recurrent episodes of potentially severe oedema. Icatibant for SC injection will soon be approved for use in children and it is necessary to train parents in recognising severe episodes of AOH and in the technique for injection of icatibant. Simulation in healthcare (SH) is a set of educational methods for improving skills in a safe environment. Read More

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http://dx.doi.org/10.1016/j.annder.2020.02.001DOI Listing

Clinical Characteristics and Safety of Plasma-Derived C1-Inhibitor Therapy in Children and Adolescents with Hereditary Angioedema-A Long-Term Survey.

J Allergy Clin Immunol Pract 2020 Jul - Aug;8(7):2379-2383. Epub 2020 Mar 17.

3(rd) Department of Internal Medicine, Hungarian Angioedema Reference Center, Semmelweis University, Budapest, Hungary.

Background: Plasma-derived C1-inhibitor (pdC1-INH) is a first-line therapy for hereditary angioedema (HAE) with C1-inhibitor deficiency (C1-INH-HAE) in pediatric patients.

Objective: We intended to study the clinical characteristics and safety of treatment with pdC1-INH in this population.

Methods: In the prospective, long-term survey, real-world data on pdC1-INH (Berinert, CSL Behring) use in pediatric patients, diagnosed and followed up at our Angioedema Reference Center, were analyzed for the period from 1986 to 2018. Read More

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http://dx.doi.org/10.1016/j.jaip.2020.02.043DOI Listing

The rash that presents as a red swollen face.

Clin Dermatol 2020 Jan - Feb;38(1):63-78. Epub 2019 Oct 23.

Dermatology Department, Coimbra University Hospital, Coimbra, Portugal; Clinic of Dermatology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal. Electronic address:

A red swollen face can be a skin sign of a potentially life-threatening condition. We present in detail the main clinical presentations, diagnostic tests, and management of some of the most severe conditions that can frequently present as a red and swollen face: acute or recurrent angioedema, mast cell-driven or bradykinin-mediated angioedema, nonhereditary and hereditary angioedema, allergic or photoallergic facial contact dermatitis, contact urticaria, severe adverse drug reactions (particularly drug reaction with eosinophilia and systemic symptoms [DRESS]), skin infections (erysipelas, cellulitis, necrotizing fasciitis), and autoimmune diseases (dermatomyositis). There are many other conditions that also have to be considered in the differential diagnosis of a red swollen face. Read More

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http://dx.doi.org/10.1016/j.clindermatol.2019.10.017DOI Listing
October 2019

Real-world cohort study of adult and pediatric patients treated for hereditary angioedema in the United States.

Allergy Asthma Proc 2020 Mar 18. Epub 2020 Mar 18.

Background: There is limited real-world evidence on hereditary angioedema (HAE) patient characteristics and health-careresource utilization (HCRU); in addition, pediatric patients have been described in small cohorts.

Objective: To describe patient characteristics, treatment patterns, and HCRU among adult and pediatric patients treatedfor HAE in a large U.S. Read More

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http://dx.doi.org/10.2500/aap.2020.41.2000011DOI Listing

Hereditary Angioedema.

N Engl J Med 2020 Mar;382(12):1136-1148

From the Division of Clinical Immunology and Allergy, Icahn School of Medicine at Mount Sinai, New York (P.J.B.); and the Department of Medicine, University of California, San Diego, San Diego (S.C.C.).

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http://dx.doi.org/10.1056/NEJMra1808012DOI Listing

An update on the genetics and pathogenesis of hereditary angioedema.

Genes Dis 2020 Mar 1;7(1):75-83. Epub 2019 Aug 1.

Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Hereditary angioedema (HAE) is an uncommon genetic disorder characterized by recurrent episodes of edema involving subcutaneous tissue and submucosa. The pathogenesis of HAE reflects an intricate coordinated regulation of components of complement, kinin and hemostatic pathway. Till date, mutations in 4 different genes have been identified to cause HAE which includes serine protease inhibitor G1 (), factor XII (), plasminogen () and angiopoietin 1 (). Read More

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http://dx.doi.org/10.1016/j.gendis.2019.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063419PMC