2,532 results match your criteria Hereditary Angioedema


Long-term outcomes with subcutaneous C1-inhibitor replacement therapy for prevention of hereditary angioedema attacks.

J Allergy Clin Immunol Pract 2019 Feb 14. Epub 2019 Feb 14.

CSL Behring LLC, King of Prussia, PA, USA.

Background: For the prevention of attacks of hereditary angioedema (HAE), the efficacy and safety of subcutaneous human C1-esterase inhibitor (C1-INH[SC]; HAEGARDA, CSL Behring) was established in the 16-week COMPACT trial.

Objective: To assess the long-term safety, occurrence of angioedema attacks, and use of rescue medication with C1-INH(SC).

Methods: Open-label, randomised, parallel-arm extension of COMPACT across 11 countries. Read More

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http://dx.doi.org/10.1016/j.jaip.2019.01.054DOI Listing
February 2019

Laryngeal Edema in a Child with Hereditary Angioedema with Normal C1 Inhibitor.

J Allergy Clin Immunol Pract 2019 Feb 12. Epub 2019 Feb 12.

Division of Allergy and Clinical Immunology, Department of Medicine, East Tennessee State University, Johnson City, Tenn. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2019.01.008DOI Listing
February 2019

Hereditary angioedema: Repeated attacks in a 10-year-old boy.

Pediatr Int 2019 Jan;61(1):101-103

Department of Pediatrics, Tokyo Women's Medical University Medical Center East, Tokyo, Japan.

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http://dx.doi.org/10.1111/ped.13729DOI Listing
January 2019
1 Read

C1-INH concentrate for prophylaxis during pregnancy in hereditary angioedema with normal C1-INH.

J Allergy Clin Immunol Pract 2019 Feb;7(2):754

Allergy/Immunology Associates Inc, Mayfield Heights, Ohio.

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http://dx.doi.org/10.1016/j.jaip.2018.10.056DOI Listing
February 2019
1 Read

Is hereditary angioedema related to an increased risk of atherosclerosis?

Ann Allergy Asthma Immunol 2019 Feb;122(2):228-229

Department of Medical Sciences and Public Health, Unit of Internal Medicine, Allergy and Clinical Immunology, University of Cagliari, Italy.

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http://dx.doi.org/10.1016/j.anai.2018.11.006DOI Listing
February 2019
1 Read

Recurrent urinary tract infections in kidney transplant recipients during the first-year influence long-term graft function: a single-center retrospective cohort study.

J Nephrol 2019 Jan 30. Epub 2019 Jan 30.

Department of Emergency and Organ Transplantation, Nephrology, Dialysis and Transplantation Unit, University of Bari, Bari, Italy.

Urinary tract infections (UTIs) after kidney transplantation are associated with significant morbidity. However, data on the impact of UTI on graft survival are controversial. We conducted a retrospective cohort study of 380 kidney transplant patients. Read More

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http://dx.doi.org/10.1007/s40620-019-00591-5DOI Listing
January 2019
1 Read

Cost-Effectiveness of Prophylactic Medications for the Treatment of Hereditary Angioedema Due to C1 Inhibitor Deficiency: A Real-World U.S. Perspective.

Authors:
Bruce L Zuraw

J Manag Care Spec Pharm 2019 Feb;25(2):148-151

1 Division of Rheumatology, Allergy and Immunology, Department of Medicine, University of California San Diego School of Medicine and Medicine Service, San Diego VA Healthcare.

Disclosures: No funding supported the writing of this commentary. The author reports personal fees from BioCryst, CSL Behring, Shire, and Pharming and grants from Ionis. He is chair of the US HAEA Medical Advisory Board and scientific advisor for HAE International. Read More

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http://dx.doi.org/10.18553/jmcp.2019.25.2.148DOI Listing
February 2019
1 Read

The Effectiveness and Value of Lanadelumab and C1 Esterase Inhibitors for Prophylaxis of Hereditary Angioedema Attacks.

J Manag Care Spec Pharm 2019 Feb;25(2):143-148

1 Institute for Clinical and Economic Review, Boston, Massachusetts.

Disclosures: Funding for this summary was contributed by the Laura and John Arnold Foundation, Blue Shield of California, and California Health Care Foundation to the Institute for Clinical and Economic Review (ICER), an independent organization that evaluates the evidence on the value of health care interventions. ICER's annual policy summit is supported by dues from Aetna, AHIP Anthem, Blue Shield of California, CVS Caremark, Express Scripts, Harvard Pilgrim Health Care, Cambia Health Solutions, United Healthcare, Kaiser Permanente, Premera Blue Cross, AstraZeneca, Genentech, GlaxoSmithKline, Johnson & Johnson, Merck, National Pharmaceutical Council, Prime Therapeutics, Sanofi, Spark Therapeutics, Health Care Service Corporation, Editas, Alnylam, Regeneron, Mallinkrodt, Biogen, HealthPartners, and Novartis. Agboola, Dreitlein, and Pearson are ICER employees. Read More

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http://dx.doi.org/10.18553/jmcp.2019.25.2.143DOI Listing
February 2019
1 Read

Oxidative stress markers in patients with hereditary angioedema.

Arch Med Sci 2019 01 31;15(1):92-98. Epub 2017 Jul 31.

School and Operative Unit of Allergy and Clinical Immunology, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Introduction: Hereditary angioedema due to C1-INH deficiency (C1-INH-HAE) or with normal C1-INH is characterized by recurrent swellings due to uncontrolled production of vasoactive mediators, among which bradykinin (BK) is crucial. Through the binding and activation of the two human BK-receptors, kinins may have dual beneficial and deleterious effects in vascular and inflammation physiopathology by inducing oxidative stress. We aimed to assess the serum concentrations of advanced glycation end products (AGEs) and advanced oxidation protein products (AOPPs) in patients affected by HAE. Read More

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http://dx.doi.org/10.5114/aoms.2017.66160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348350PMC
January 2019
1 Read

Delayed Diagnosis of Hereditary Angioedema with C1-inhibitor Deficiency in Iranian Children and Adolescents.

Pediatr Allergy Immunol 2019 Jan 28. Epub 2019 Jan 28.

Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

Hereditary angioedema is an autosomal dominant deficiency of C1-inhibitor (C1-INH-HAE). This rare but potentially fatal disease gives rise to episodes of bradykinin-mediated edema in face, trunk, extremities, genitalia, gastrointestinal tract and upper airway. This leads to severe outcomes including asphyxiation, unnecessary emergency abdominal surgeries, and a considerably diminished quality of life in addition to high economic burden for the health care system. Read More

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http://doi.wiley.com/10.1111/pai.13028
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http://dx.doi.org/10.1111/pai.13028DOI Listing
January 2019
2 Reads
3.397 Impact Factor

Angiopoietin-1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema.

Clin Exp Allergy 2019 Jan 28. Epub 2019 Jan 28.

Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, Foggia, Italy.

Background: Different mutations of the angiopoietin-1 gene (ANGPT1) have been associated with the occurrence of hereditary angioedema (HAE).

Objective: The purpose of the study is to clarify whether the ANGPT1 A119S variant plays its role via haploinsufficiency or a dominant negative effect.

Methods: The ability of ANGPT1 A119S variant to affect the endothelial barrier function was assessed by immunocytochemistry. Read More

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http://dx.doi.org/10.1111/cea.13349DOI Listing
January 2019
1 Read

SERPING1 exon 3 splicing variants using alternative acceptor splice sites.

Mol Immunol 2019 Mar 24;107:91-96. Epub 2019 Jan 24.

Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Department of Clinical Immunology and Allergology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.

Mutations in the C1 inhibitor (C1INH) encoding gene, SERPING1, are associated with hereditary angioedema (HAE) which manifests as recurrent submucosal and subcutaneous edema episodes. The major C1INH function is the complement system inhibition, preventing its spontaneous activation. The presented study is focused on SERPING1 exon 3, an alternative and extraordinarily long exon (499 bp). Read More

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http://dx.doi.org/10.1016/j.molimm.2019.01.007DOI Listing
March 2019
2 Reads

Fixed-Dose Subcutaneous C1-Inhibitor Liquid for Prophylactic Treatment of C1-INH-HAE: SAHARA Randomized Study.

J Allergy Clin Immunol Pract 2019 Jan 22. Epub 2019 Jan 22.

Hungarian Angioedema Reference Center, Semmelweis University, Budapest, Hungary.

Background: Hereditary angioedema (HAE) with C1 inhibitor deficiency (C1-INH) is characterized by swelling of subcutaneous and/or submucosal tissues.

Objective: To evaluate efficacy/ safety of fixed-dose subcutaneous plasma-derived C1-INH (pdC1-INH) liquid for HAE attack prevention (NCT02584959).

Methods: Eligible patients were ≥12 years with ≥2 monthly attacks prescreening or pre-long-term prophylaxis. Read More

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http://dx.doi.org/10.1016/j.jaip.2019.01.021DOI Listing
January 2019
4 Reads

Isolated angioedema: An overview of clinical features and etiology.

Exp Ther Med 2019 Feb 16;17(2):1068-1072. Epub 2018 Nov 16.

Allergology and Immunology Discipline, 'Iuliu Hațieganu' University of Medicine and Pharmacy, Cluj-Napoca 400012, Romania.

Angioedema can occur in isolation, accompanied by urticaria, or as a feature of anaphylaxis in mast cell-mediated disorders, bradykinin-mediated disorders, as well as in others with unknown mechanisms, such as infections, rare disorders, or idiopathic angioedema. In mast cell-mediated angioedema, other signs and symptoms of mast cell-mediator release are frequently seen. However, clear evidence of mast cell degranulation may be absent in histaminergic angioedema. Read More

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http://dx.doi.org/10.3892/etm.2018.6982DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327642PMC
February 2019
1 Read

[Angioedema prophylaxis].

Authors:
V Zampeli M Magerl

Hautarzt 2019 Feb;70(2):107-115

Klinik für Dermatologie, Venerologie und Allergologie, Allergie-Centrum-Charité/ECARF, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland.

Angioedema is a spontaneous, edematous swelling of the deep layers of the skin or mucous membrane. Angioedema in the respiratory tract is potentially life-threatening. The classification of angioedema into mast-cell-mediated (e. Read More

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http://link.springer.com/10.1007/s00105-018-4345-9
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http://dx.doi.org/10.1007/s00105-018-4345-9DOI Listing
February 2019
5 Reads

[Age-specific aspects in the treatment of angioedema patients].

Authors:
P Staubach

Hautarzt 2019 Feb;70(2):101-106

Spezialsprechstunde Angioödeme, Hautklinik und Poliklinik, Universitätsmedizin Mainz, Langenbeckstr. 1, 55131, Mainz, Deutschland.

Manifestation of angioedema can occur at any age. We distinguish between two main subtypes: mast cell mediator-associated angioedema (often with hives) and the non-mast cell mediator-associated angioedema. The patient's history is very important due to the fact that one subtype can be hereditary, but we also have to consider new mutations and even not yet diagnosed patients. Read More

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http://dx.doi.org/10.1007/s00105-018-4346-8DOI Listing
February 2019
1 Read

Hereditary angioedema: Linking complement regulation to the coagulation system.

Res Pract Thromb Haemost 2019 Jan 16;3(1):38-43. Epub 2018 Dec 16.

Department of Molecular Cell Biology Sanquin Research & Landsteiner Laboratory Amsterdam The Netherlands.

Congenital deficiency of C1 inhibitor, the main inhibitor of the classic complement system pathway, leads to paroxysmal angioedema (hereditary angioedema) that can be debilitating or life-threatening for affected patients. In the past few years many new insights on the pathogenesis of angioedema formation in the presence of low levels of C1 inhibitor has been accumulated. There is a central role for bradykinin that is released upon activation of the kallikrein-kinin system that is insufficiently controlled by adequate levels of C1 inhibitor. Read More

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http://doi.wiley.com/10.1002/rth2.12175
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http://dx.doi.org/10.1002/rth2.12175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332742PMC
January 2019
7 Reads

[Gender aspects in angioedema].

Hautarzt 2019 Feb;70(2):92-100

Klinik für Dermatologie, Allergologie und Venerologie, Comprehensive Allergy Center (CAC), Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Deutschland.

Background: Angioedema can be triggered by mediators bradykinin or histamine. Gender-specific differences and potential biomarkers for follow-up/therapy monitoring are mostly unknown.

Objectives: To what extent are gender-related defects, prodromes, trigger factors, clinical parameters such as number of attacks, frequency, localization, laboratory values, hormones and response to therapy different for the variant types of angioedema. Read More

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http://link.springer.com/10.1007/s00105-018-4347-7
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http://dx.doi.org/10.1007/s00105-018-4347-7DOI Listing
February 2019
4 Reads

Melkersson-Rosenthal syndrome: a case report of a rare disease with overlapping features.

Allergy Asthma Clin Immunol 2019 5;15. Epub 2019 Jan 5.

2Department of Neuroscience, Division of Dentistry, University of Padua, Via Giustiniani 2, 35128 Padua, Italy.

Background: Melkersson-Rosenthal syndrome (MRS) is a rare, neuro-mucocutaneous disease which presents as orofacial swelling, facial palsy and fissured tongue. These symptoms may occur simultaneously or, more frequently, with a oligosymptomatic or monosymptomatic pattern. Swelling, that is the most common initial finding, may mimic hereditary or acquired angioedema, a disorder caused by histamine or bradykinin-mediated plasma-leakage affecting subcutaneous and/or submucosal tissue. Read More

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https://aacijournal.biomedcentral.com/articles/10.1186/s1322
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http://dx.doi.org/10.1186/s13223-018-0316-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320604PMC
January 2019
5 Reads

Hereditary angioedema and inducible urticaria: Not mutually exclusive.

Ann Allergy Asthma Immunol 2018 Dec 31. Epub 2018 Dec 31.

George Washington School of Medicine and Health Sciences, Washington, DC.

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http://dx.doi.org/10.1016/j.anai.2018.12.018DOI Listing
December 2018
2 Reads

A mechanism for hereditary angioedema with normal C1-inhibitor: an inhibitory regulatory role for the factor XII heavy chain.

Blood 2018 Dec 27. Epub 2018 Dec 27.

Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, United States;

The plasma proteins factor XII (FXII) and prekallikrein undergo reciprocal activation to the proteases FXIIa and kallikrein by a process that is enhanced by surfaces (contact activation), and regulated by the serpin C1-inhibitor. Kallikrein cleaves high-molecular-weight kininogen (HK), releasing the vasoactive peptide bradykinin. Patients with (HAE) experience episodes of soft tissue swelling as a consequence of unregulated kallikrein activity or increased prekallikrein activation. Read More

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http://dx.doi.org/10.1182/blood-2018-06-860270DOI Listing
December 2018
1 Read
10.452 Impact Factor

Angiotensin-converting enzyme inhibitor-induced angioedema: epidemiology, pathogenesis and management.

Authors:
Marta Sobotková

Vnitr Lek 2018 ;64(10):928-933

Angiotensin-converting enzyme-induced angioedema occurs in 0.1-0.7 % of recipients. Read More

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January 2018
1 Read

New and evolving therapies for hereditary angioedema.

Allergy Asthma Proc 2019 Jan;40(1):7-13

Hereditary angioedema (HAE) is a rare, autosomal dominant, genetic disorder associated with a deficiency in C1 inhibitor protein. HAE is characterized by recurrent and unpredictable episodes of swelling of the extremities, abdomen, face, and upper airway. There are several newly approved drugs as well as investigational products that are currently under study for the management of patients with HAE, with the potential to optimize care and improve quality of life for patients with HAE. Read More

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http://dx.doi.org/10.2500/aap.2019.40.4195DOI Listing
January 2019
2 Reads

Wolf in the sheep's clothing: intestinal angioedema mimicking infectious colitis.

BMJ Case Rep 2018 Dec 13;11(1). Epub 2018 Dec 13.

Internal Medicine, Abington Hospital - Jefferson Health, Abington, Pennsylvania, USA.

Hereditary angioedema (HAE) is a relatively rare clinical entity that can potentially cause life-threatening airway or intestinal oedema, patients with the latter usually presents with symptoms of gastroenteritis like vomiting, diarrhoea and abdominal pain. Here, we present a unique case of a less recognised type of HAE that is type III in a patient who presented with signs and symptoms consistent with infectious colitis. She previously had similar episodes and was managed multiple times with antibiotics, with no satisfactory response. Read More

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http://dx.doi.org/10.1136/bcr-2018-226682DOI Listing
December 2018
7 Reads

CpaA Is a Glycan-Specific Adamalysin-like Protease Secreted by Acinetobacter baumannii That Inactivates Coagulation Factor XII.

MBio 2018 12 18;9(6). Epub 2018 Dec 18.

Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, Michigan, USA

Antibiotic-resistant is increasingly recognized as a cause of difficult-to-treat nosocomial infections, including pneumonia, wound infections, and bacteremia. Previous studies have demonstrated that the metalloprotease CpaA contributes to virulence and prolongs clotting time when added to human plasma as measured by the activated partial thromboplastin time (aPTT) assay. Here, we show that CpaA interferes with the intrinsic coagulation pathway, also called the contact activation system, in human as well as murine plasma, but has no discernible effect on the extrinsic pathway. Read More

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http://dx.doi.org/10.1128/mBio.01606-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299215PMC
December 2018
3 Reads

Pharmaceutical Approval Update.

P T 2018 Dec;43(12):734-735

Mulpleta (lusutrombopag) for thrombocytopenia; ajovy (fremenezumab-vfrm) for migraine; takhzyro (lanadelumab-flyo) for hereditary angioedema attacks. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281146PMC
December 2018
1 Read

Development of a health-related quality of life instrument for patients with hereditary angioedema living in the United States.

J Allergy Clin Immunol Pract 2018 Dec 12. Epub 2018 Dec 12.

Division of Rheumatology, Allergy and Immunology, Department of Medicine, University of California San Diego, La Jolla, Calif.

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http://dx.doi.org/10.1016/j.jaip.2018.11.042DOI Listing
December 2018
1 Read

Lanadelumab for the Prophylactic Treatment of Hereditary Angioedema with C1 Inhibitor Deficiency: A Review of Preclinical and Phase I Studies.

BioDrugs 2019 Feb;33(1):33-43

Division of Rheumatology, Allergy and Immunology, University of California, San Diego, 8899 University Center Lane, Suite 230, San Diego, CA, 92122, USA.

Hereditary angioedema (HAE) with C1 esterase inhibitor (C1-INH) deficiency (C1-INH-HAE) is a rare disease characterized by diminished levels or dysfunctional activity of C1-INH, leading to dysregulated plasma kallikrein activity within the kallikrein-kinin pathway. Symptoms manifest as painful, potentially life-threatening swelling of subcutaneous tissues throughout the body and/or submucosal edema in the upper airway or gastrointestinal tract. Attacks recur with unpredictable frequency, intensity, and duration, placing a heavy burden on patients' daily lives. Read More

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http://dx.doi.org/10.1007/s40259-018-0325-yDOI Listing
February 2019
1 Read

Training patients for self-administration of a new subcutaneous C1-inhibitor concentrate for hereditary angioedema.

Nurs Open 2019 Jan 28;6(1):126-135. Epub 2018 Aug 28.

AARA Research Center Dallas Texas.

Aims: The aim of this study was to provide recommendations for training patients with hereditary angioedema, based on nursing clinical trial experience, to self-administer subcutaneous C1-INH (C1-INH[SC]) used as routine prophylaxis.

Background: A volume-reduced, subcutaneous C1-INH concentrate (C1-INH(SC); HAEGARDA®; CSL Behring) was recently FDA-approved for the routine prevention of hereditary angioedema attacks. Nurses will play an important role in patient training. Read More

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http://dx.doi.org/10.1002/nop2.194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279717PMC
January 2019
1 Read

The hereditary angioedema syndromes.

Authors:
Alvin H Schmaier

J Clin Invest 2019 Jan 10;129(1):66-68. Epub 2018 Dec 10.

Hereditary angioedema (HAE) is a rare genetic disorder primarily caused by mutations in the SERPING1 gene encoding the C1 inhibitor (C1INH) that leads to plasma deficiency, resulting in recurrent attacks of severe swelling. In the current issue of the JCI, Haslund et al. show that in a subset of patients with type I HAE, mutated C1INH encoded by HAE-causing SERPING1 acts upon wildtype (WT) C1INH in a dominant-negative manner and forms intracellular C1INH aggregates. Read More

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http://dx.doi.org/10.1172/JCI125378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307950PMC
January 2019
1 Read

SERPING1 mutation in a rare hereditary angioedema with skin blisters.

Ann Allergy Asthma Immunol 2018 Nov 30. Epub 2018 Nov 30.

Department of Biophysics, Universidade Federal de São Paulo, São Paulo, SP, Brazil. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10811206183149
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http://dx.doi.org/10.1016/j.anai.2018.11.026DOI Listing
November 2018
9 Reads

[Classification and pathophysiology of angioedema].

Hautarzt 2019 Feb;70(2):84-91

Klinik für Dermatologie, Venerologie und Allergologie, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland.

Background: The classification of angioedema in daily clinical practice is often challenging.

Objectives: The goal is to review the most recent classification of angioedema and to discuss the underlying pathology.

Materials And Methods: Current guidelines and research on the pathophysiology and classification of angioedema were evaluated. Read More

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http://dx.doi.org/10.1007/s00105-018-4318-zDOI Listing
February 2019
2 Reads

Chemotherapy in Patients with Hereditary Angioedema.

Anticancer Res 2018 Dec;38(12):6801-6807

Internal Medicine Department, Tor Vergata University Hospital, Medical Oncology Unit, Rome, Italy.

Background: Hereditary angioedema (HAE) is an autosomal dominant hereditary disorder characterized by episodic swelling of many body regions (especially throat and abdomen), potentially triggered by medication. No data are available for HAE in patients with cancer assigned to standard chemotherapy. The aim of our study was to identify circulating mediators potentially predictive of acute HAE attacks during chemotherapy. Read More

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http://ar.iiarjournals.org/lookup/doi/10.21873/anticanres.13
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http://dx.doi.org/10.21873/anticanres.13052DOI Listing
December 2018
16 Reads

Hereditary Angioedema Type II: First Presentation in Adulthood with Recurrent Severe Abdominal Pain.

Case Reports Immunol 2018 29;2018:7435870. Epub 2018 Oct 29.

Cleveland Clinic Abu Dhabi, UAE.

A 27-year-old Emirate man presented to Cleveland Clinic Abu Dhabi emergency department with a 4 year history of recurrent episodes of severe swellings affecting different parts of his body. He used to get 2 swelling episodes every week affecting either his face, hands, feet or scrotum and severe abdominal pain twice a week. Abdominal CT scan and a colonoscopy showed bowel wall oedema. Read More

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http://dx.doi.org/10.1155/2018/7435870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231379PMC
October 2018
1 Read

Effect of Lanadelumab Compared With Placebo on Prevention of Hereditary Angioedema Attacks: A Randomized Clinical Trial.

JAMA 2018 11;320(20):2108-2121

Department of Dermatology and Allergy, Dermatological Allergology, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Importance: Current treatments for long-term prophylaxis in hereditary angioedema have limitations.

Objective: To assess the efficacy of lanadelumab, a fully human monoclonal antibody that selectively inhibits active plasma kallikrein, in preventing hereditary angioedema attacks.

Design, Setting, And Participants: Phase 3, randomized, double-blind, parallel-group, placebo-controlled trial conducted at 41 sites in Canada, Europe, Jordan, and the United States. Read More

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http://dx.doi.org/10.1001/jama.2018.16773DOI Listing
November 2018
4 Reads

The diagnosis of hereditary angioedema with C1 inhibitor deficiency: a survey of Canadian physicians and laboratories.

Allergy Asthma Clin Immunol 2018 21;14:83. Epub 2018 Nov 21.

10GREPI EA7408, University Grenoble Alpes, Grenoble, France.

Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is an autosomal dominant disease resulting in random and unpredictable attacks of swelling. The swelling in C1-INH-HAE is a result of impaired regulation of bradykinin production. The fact that the array of tests needed to diagnose HAE is not always available to the treating physicians is challenging for them and their patients. Read More

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http://dx.doi.org/10.1186/s13223-018-0307-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249925PMC
November 2018
1 Read

An investigational RNAi therapeutic targeting Factor XII (ALN-F12) for the treatment of hereditary angioedema.

RNA 2019 Feb 21;25(2):255-263. Epub 2018 Nov 21.

Alnylam Pharmaceuticals, Cambridge, Massachusetts 02142, USA.

Hereditary angioedema (HAE) is a genetic disorder mostly caused by mutations in the C1 esterase inhibitor gene (C1INH) that results in poor control of contact pathway activation and excess bradykinin generation. Bradykinin increases vascular permeability and is ultimately responsible for the episodes of swelling characteristic of HAE. We hypothesized that the use of RNA interference (RNAi) to reduce plasma Factor XII (FXII), which initiates the contact pathway signaling cascade, would reduce contact pathway activation and prevent excessive bradykinin generation. Read More

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http://dx.doi.org/10.1261/rna.068916.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348991PMC
February 2019
8 Reads

Unnecessary abdominal interventions in patients with hereditary angioedema.

J Dtsch Dermatol Ges 2018 Dec 21;16(12):1443-1449. Epub 2018 Nov 21.

Department of Oto-Rhino-Laryngology Head and Neck Surgery, Ulm University Medical Center, Germany.

Background: Hereditary angioedema (HAE) is a rare genetic disorder that leads to recurrent development of mucosal and dermal swelling. It is mediated by bradykinin, and can affect virtually any part of the human body, including the gastrointestinal tract, the extremities, and the laryngeal and pharyngeal regions. Safe and potent drugs are available for acute and prophylactic treatment of HAE. Read More

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http://dx.doi.org/10.1111/ddg.13698DOI Listing
December 2018
12 Reads

Hereditary angioedema with C1 inhibitor (C1-INH) deficit: the strength of recognition (51 cases).

Braz J Med Biol Res 2018 Nov 14;51(12):e7813. Epub 2018 Nov 14.

Disciplina de Imunologia Clínica, Faculdade de Medicina do ABC, Santo André, SP, Brasil.

Hereditary angioedema (HAE) is a rare autosomal dominant disease due to C1 esterase inhibitor deficiency (C1-INH). The disease is characterized by subcutaneous and submucosal edema in the absence of urticaria due to the accumulation of bradykinin. This descriptive study aimed to evaluate the clinical characteristics of patients with a confirmed diagnosis of HAE referred to our Outpatient Clinic between December 2009 and November 2017. Read More

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http://dx.doi.org/10.1590/1414-431X20187813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247277PMC
November 2018
15 Reads

Consequences of Misdiagnosed and Mismanaged Hereditary Angioedema Laryngeal Attacks: An Overview of Cases from the Romanian Registry.

Case Rep Emerg Med 2018 22;2018:6363787. Epub 2018 Oct 22.

Romanian Network for Hereditary Angioedema, 11a Sântana St, 540256 Tîrgu-Mureş, Romania.

Emergency department (ED) physicians frequently encounter patients presenting with angioedema. Most of these involve histamine-mediated angioedema; however, less common forms of angioedema (bradykinin-mediated) also occur. It is vital physicians correctly recognize and treat this; particularly since bradykinin-mediated angioedema does not respond to antihistamines, corticosteroids or epinephrine and hereditary angioedema (HAE) laryngeal attacks can be fatal. Read More

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http://dx.doi.org/10.1155/2018/6363787DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217881PMC
October 2018
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Diagnostic biologique des angioedèmes bradykiniques : les recommandations du CREAK.

Presse Med 2018 Nov 8. Epub 2018 Nov 8.

Centre de référence national des angioedèmes (CREAK), 38043 Grenoble, France; Service d'immunologie, CHUGA, 38043 Grenoble, France.

Bradykinin mediated angioedema (BK-AE) can be associated either with C1Inhibitor deficiency (hereditary and acquired forms), either with normal C1Inh (hereditary form and drug induced AE as angiotensin converting enzyme inhibitors…). In case of high clinical suspicion of BK-AE, C1Inh exploration must be done at first: C1Inh function and antigenemy as well as C4 concentration. C1Inh deficiency is significant if the tests are below 50 % of the normal values and controlled a second time. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07554982183032
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http://dx.doi.org/10.1016/j.lpm.2018.06.015DOI Listing
November 2018
8 Reads

First preventive mAb for hereditary angioedema.

Authors:
Joana Osorio

Nat Biotechnol 2018 Nov;36(11):1027

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http://dx.doi.org/10.1038/nbt1118-1027DOI Listing
November 2018
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Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema.

J Clin Invest 2019 Jan 10;129(1):388-405. Epub 2018 Dec 10.

Department of Biomedicine, Aarhus University, Aarhus, Denmark.

Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent edema attacks associated with morbidity and mortality. HAE results from variations in the SERPING1 gene that encodes the C1 inhibitor (C1INH), a serine protease inhibitor (serpin). Reduced plasma levels of C1INH lead to enhanced activation of the contact system, triggering high levels of bradykinin and increased vascular permeability, but the cellular mechanisms leading to low C1INH levels (20%-30% of normal) in heterozygous HAE type I patients remain obscure. Read More

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http://www.jci.org/articles/view/98869
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http://dx.doi.org/10.1172/JCI98869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307969PMC
January 2019
9 Reads

Factor XII truncation accelerates activation in solution.

J Thromb Haemost 2019 Jan 10;17(1):183-194. Epub 2018 Dec 10.

Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.

Essentials During contact system activation, factor XII is progressively cleaved by plasma kallikrein. We investigated the role of factor XII truncation in biochemical studies. Factor XII contains naturally occurring truncating cleavage sites for a variety of enzymes. Read More

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http://doi.wiley.com/10.1111/jth.14325
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http://dx.doi.org/10.1111/jth.14325DOI Listing
January 2019
15 Reads

Lethal manifestations of angioedema.

Forensic Sci Med Pathol 2018 Nov 3. Epub 2018 Nov 3.

Forensic Science SA, 21 Divett Place, Adelaide, 5000, Australia.

An 86-year-old woman with a history of angioedema was found dead at her home address. She had recently complained of a swollen tongue. At autopsy the tongue was grossly edematous, protruding from the mouth. Read More

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http://link.springer.com/10.1007/s12024-018-0045-0
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http://dx.doi.org/10.1007/s12024-018-0045-0DOI Listing
November 2018
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Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian families.

Gene 2019 Feb 30;685:179-185. Epub 2018 Oct 30.

Center for Research and Molecular Diagnosis of Genetic Diseases, Department of Biophysics, Federal University of São Paulo, Rua Pedro de Toledo, 669, 9° andar, Vila Clementino, 04039-032 São Paulo, SP, Brazil. Electronic address:

Background: Hereditary angioedema (HAE) is a rare genetic disorder mainly caused by mutations in the SERPING1 gene, determining a deficit of C1 inhibitor (C1-INH). In approximately 10% of the cases, HAE with C1-INH deficiency (C1-INH-HAE) is caused by large gene rearrangements, which are not detected by Sanger sequencing. Here we present the exon quantification technique (EQT), a molecular diagnostic test for the detection of large genetic rearrangements in SERPING1, mapping the exact size and location of the deletion caused by the recombination of Alu elements. Read More

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http://dx.doi.org/10.1016/j.gene.2018.10.084DOI Listing
February 2019
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The physician and hereditary angioedema friend or foe: 62-year diagnostic delay and iatrogenic procedures.

Allergy Asthma Clin Immunol 2018 25;14:75. Epub 2018 Oct 25.

1Clinical Center of Allergology, Clinic of Allergy and Asthma, University Hospital "Alexandrovska", Medical University of Sofia, 1, Georgi Sofiiski Str., 1431 Sofia, Bulgaria.

Background: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease characterized by episodes of acute subcutaneous swelling, and/or recurrent severe abdominal pain. The disease is potentially fatal if the upper-airway is involved. Iatrogenic harm can occur if HAE is not considered in the differential diagnosis, the specialists are not aware of the natural history, diagnosis and treatment of HAE, or as a result of unnecessary surgical and other iatrogenic interventions. Read More

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http://dx.doi.org/10.1186/s13223-018-0275-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201585PMC
October 2018
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Nine year follow-up of a rare case of angioedema due to acquired C1-inhibitor deficiency with late onset and good response to attenuated androgen.

Allergy Asthma Clin Immunol 2018 25;14:69. Epub 2018 Oct 25.

1Carol Davila University of Medicine and Pharmacy, Bulevardul Eroii Sanitari, no. 8, District 5, 050474 Bucharest, Romania.

Background: Angioedema due to acquired deficiency of C1-inhibitor (C1-INH-AAE) is a rare disease sharing some clinical and laboratory similarities with hereditary angioedema, but with late onset and no positive family history. The underlining cause may be malignant or due to autoimmune diseases, but some cases remain idiopathic.

Case Presentation: We report a case of a 75 year old woman suffering from recurrent episodes of angioedema since the age of 66, considered first induced by treatment with angiotensin-converting-enzyme inhibitors (ACEI). Read More

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http://dx.doi.org/10.1186/s13223-018-0274-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6201569PMC
October 2018
2 Reads