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Hereditary angioedema

Andrea Zanichelli, Hilary J Longhurst, Marcus Maurer, Laurence Bouillet, Werner Aberer, Vincent Fabien, Irmgard Andresen, Teresa Caballero
BACKGROUND: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) causes swelling in the skin and upper airways and pain in the abdomen because of mucosal swelling. C1-INH-HAE is frequently misdiagnosed, leading to delays in diagnosis, inadequate treatment, and unnecessary procedures. OBJECTIVE: To evaluate the history of misdiagnosis in patients participating in the Icatibant Outcome Survey (IOS). METHODS: The IOS is an observational study in which safety and effectiveness of icatibant have been evaluated since 2009...
October 2016: Annals of Allergy, Asthma & Immunology
Hiromasa Yakushiji, Arito Kaji, Keitarou Suzuki, Motohiro Yamada, Takahiko Horiuchi, Masahiro Sinozaki
We describe a patient with hereditary angioedema type I. The patient had experienced recurrent abdominal pain around the time of her menstrual period for 13 years. A laboratory examination showed reduced functional and antigenic levels of C4 and C1 inhibitor (C1-INH). To establish a diagnosis, we carried out a DNA analysis of the patient's C1-INH gene. We determined that the patient was heterozygous for a single base pair transposition of T to C at nucleotide 4429 in exon 4, which had not been reported in the literature...
2016: Internal Medicine
A Frazer-Abel, L Sepiashvili, M M Mbughuni, M A V Willrich
Historically, complement disorders have been attributed to immunodeficiency associated with severe or frequent infection. More recently, however, complement has been recognized for its role in inflammation, autoimmune disorders, and vision loss. This paradigm shift requires a fundamental change in how complement testing is performed and interpreted. Here, we provide an overview of the complement pathways and summarize recent literature related to hereditary and acquired angioedema, infectious diseases, autoimmunity, and age-related macular degeneration...
2016: Advances in Clinical Chemistry
Roman Hakl
Hereditární angioedém je vzácné dominantně dědičné onemocnění způsobené deficitem inhibitoru C1-esterázy (C1-INH). Onemocnění se klinicky projevuje recidivami lokalizovaných otoků podkoží a sliznic. Nemoc je hendikepující a může být i smrtelná. Charakteristická je extrémní variabilita v četnosti a závažnosti symptomů. Článek se zabývá organizací péče o pacienty a zahrnuje aktuální léčebné možnosti onemocnění. Strategie léčby zahrnuje krátkodobou a dlouhodobou profylaxi a léčbu atak...
2016: Vnitr̆ní Lékar̆ství
Anette Bygum, Inmaculada Martinez-Saguer, Murat Bas, Jeffrey Rosch, Jonathan Edelman, Mikhail Rojavin, Debora Williams-Herman
BACKGROUND: Treatment of hereditary angioedema (HAE) in 'older adults' (those aged ≥65 years) has not been well studied. The international Berinert Patient Registry collected data on the use of intravenous plasma-derived, pasteurized, nanofiltered C1-inhibitor concentrate (pnfC1-INH; Berinert(®)/CSL Behring) in patients of any age, including many older adults. METHODS: This observational registry, conducted from 2010 to 2014 at 30 US and seven European sites, gathered prospective (post-enrollment) and retrospective (pre-enrollment) usage and adverse event (AE) data on subjects treated with pnfC1-INH...
October 4, 2016: Drugs & Aging
Lisa S MacBeth, Gerald W Volcheck, Juraj Sprung, Toby N Weingarten
PURPOSE: Two types of bradykinin-mediated angioedema, hereditary angioedema (HAE) and acquired angioedema (AAE), result from deficiency or dysfunction of C1 esterase inhibitor, leading to an overproduction of bradykinin, which can lead to vascular permeability and life-threatening angioedema of the airway. The objective of this study was to review perioperative outcomes in a series of patients with HAE and AAE and to review current knowledge about anesthetic complications in patients with HAE or AAE...
November 2016: Journal of Clinical Anesthesia
Veronica Squeglia, Alessandro Barbarino, Maria Bova, Carmela Gravante, Angelica Petraroli, Giuseppe Spadaro, Massimo Triggiani, Arturo Genovese, Gianni Marone
BACKGROUND: Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by recurrent attacks of swelling that affect various body sites. Such attacks are a frequent cause of visits to the emergency department and are often treated in the hospital. In recent years, self-administration of C1-inhibitor (C1-INH) concentrates at home has become an increasingly used option, with a positive impact on patient outcomes and quality of life. METHODS: This was an observational study of 6 months' duration in 56 patients with C1-INH-HAE referred to a HAE center in southern Italy...
September 29, 2016: Orphanet Journal of Rare Diseases
Rémi Baroso, Pauline Sellier, Federica Defendi, Delphine Charignon, Arije Ghannam, Mohammed Habib, Christian Drouet, Bertrand Favier
BACKGROUND: Angioedema without wheals (AE) is a symptom characterised by localised episodes of oedema presumably caused by kinin release from kininogen cleavage. It can result from a hereditary deficiency in C1 Inhibitor (C1Inh), but it can present with normal level of C1Inh. These forms are typically difficult to diagnose although enhanced kinin production is suspected or demonstrated in some cases. OBJECTIVES: We wanted to investigate bradykinin overproduction in all AE condition with normal C1Inh, excluding cases with enhanced kinin catabolism, and to propose this parameter as a disease biomarker...
2016: PloS One
Mignon van den Elzen, M F C L Go, A C Knulst, M A Blankestijn, H van Os-Medendorp, H G Otten
Non-hereditary angioedema (AE) with normal C1 esterase inhibitor (C1INH) can be presumably bradykinin- or mast cell-mediated, or of unknown cause. In this systematic review, we searched PubMed, EMBASE, and Scopus to provide an overview of the efficacy of different treatment options for the abovementioned subtypes of refractory non-hereditary AE with or without wheals and with normal C1INH. After study selection and risk of bias assessment, 61 articles were included for data extraction and analysis. Therapies were described for angiotensin-converting enzyme inhibitor-induced AE (ACEi-AE), for idiopathic AE, and for AE with wheals...
September 27, 2016: Clinical Reviews in Allergy & Immunology
Iris M Otani, Sandra C Christiansen, Paula Busse, Carlos A Camargo, Bruce L Zuraw, Marc A Riedl, Aleena Banerji
BACKGROUND: Emergency department (ED) management of hereditary angioedema (HAE) has been hindered by misdiagnosis and limited treatment options. Food and Drug Administration approval of 4 on-demand HAE therapies starting in 2009 and the publication of ED guidelines for angioedema management in 2014 should facilitate improvement of HAE management in the ED. OBJECTIVE: The objective of this study was to identify patient-reported areas for improvement in ED management of HAE attacks...
September 21, 2016: Journal of Allergy and Clinical Immunology in Practice
A Banerji, M Bas, J A Bernstein, I Boccon-Gibod, M Bova, J Dempster, A S Grumach, M Magerl, K Poarch, M B Ferreira
BACKGROUND: Published literature documents the substantial burden of hereditary angioedema (HAE) with C1 inhibitor deficiency on the quality of life and work productivity of patients. However, despite advances in the field and the availability of guidelines to advise health care providers (HCP) on the diagnosis and management of HAE, there are still many challenges to overcome. For example, delayed diagnosis and misdiagnosis are common, and treatment practices vary worldwide. OBJECTIVE: An international expert panel was convened to consider opportunities for improvements that would benefit patients with HAE...
September 22, 2016: Allergy & Rhinology
Huamin Henry Li
Hereditary angioedema (HAE) is a rare genetic disease characterized by episodic subcutaneous or submucosal swelling. The primary cause for the most common form of HAE is a deficiency in functional C1 esterase inhibitor (C1-INH). The swelling caused by HAE can be painful, disfiguring, and life-threatening. It reduces daily function and compromises the quality of life of affected individuals and their caregivers. Among different treatment strategies, replacement with C1-INH concentrates is employed for on-demand treatment of acute attacks and long-term prophylaxis...
2016: Patient Preference and Adherence
Emel Aygören-Pürsün, Anette Bygum, Kathleen Beusterien, Emily Hautamaki, Zlatko Sisic, Henrik B Boysen, Teresa Caballero
OBJECTIVE: To estimate health status utility (preference) weights for hereditary angioedema (HAE) during an attack and between attacks using data from the Hereditary Angioedema Burden of Illness Study in Europe (HAE-BOIS-Europe) survey. Utility measures quantitatively describe the net impact of a condition on a patient's life; a score of 0.0 reflects death and 1.0 reflects full health. STUDY DESIGN AND METHODS: The HAE-BOIS-Europe was a cross-sectional survey conducted in Spain, Germany, and Denmark to assess the real-world experience of HAE from the patient perspective...
2016: Patient Preference and Adherence
M P Peterson, A Bygum
We report a 64-year-old man who suffered from recurrent visible swelling attacks since the age of 20 as well as episodes with severe upper airway edema, resulting in 4 emergency tracheotomies. Eventually after 44 years he was diagnosed with hereditary angioedema (HAE) type II. The aims of this report is to emphasize the importance of awareness concerning HAE, which does not respond to traditional anti-allergic therapy, and remind physicians to test for functional C1-INH deficiency.
2016: Dermatology Online Journal
Inmaculada Martinez-Saguer, Carmen Escuriola Ettingshausen
No abstract text is available yet for this article.
September 1, 2016: Annals of Allergy, Asthma & Immunology
Zsuzsanna Zotter, Nóra Veszeli, Kinga Viktória Kőhalmi, Lilian Varga, Éva Imreh, Gábor Kovács, Marsel Nallbani, Henriette Farkas
INTRODUCTION: Urinary tract infections are considered among the most common infectious disorders in humans. Various infections may have a role in inducing HAE attacks. Our study intended to evaluate bacteriuria in the urinalysis of C1-INH-HAE patients. METHODS: Urine specimens contributed by 139 C1-INH-HAE patients at the annual control visits were studied retrospectively for microorganisms. We analyzed the presence of bacteriuria in relation to the clinical symptoms...
August 22, 2016: Allergy
Henriette Farkas, Inmaculada Martinez-Saguer, Konrad Bork, Tom Bowen, Timothy Craig, Michael Frank, Anastasios E Germenis, Anete S Grumach, Andrea Luczay, Varga Lilian, Andrea Zanichelli
BACKGROUND: The consensus documents published to date on hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) have focused on adult patients. Many of the previous recommendations have not been adapted to pediatric patients. We intended to produce consensus recommendations for the diagnosis and management of pediatric patients with C1-INH-HAE. METHODS: During an expert panel meeting that took place during the 9th C1-Inhibitor Deficiency Workshop in Budapest, 2015 [w w w...
August 9, 2016: Allergy
D L Erickson, C A Coop
CASE REPORT: A 59-year old man currently on >5 years of angiotensin-converting enzyme inhibitor (ACEI) therapy presented to the emergency department with angioedema of the tongue and difficulty swallowing. After receiving conventional therapy of antihistamine, steroids, and epinephrine, the patient's condition continued to deteriorate, with imminent intubation. The patient was treated with a C1-esterase inhibitor (C1-INH) and experienced rapid resolution of symptoms, which avoided airway complications...
August 5, 2016: Allergy & Rhinology
Alexander Forrest, Nathan Milne, Alistair Soon
Hereditary angioedema (HAE) is a group of three uncommon and potentially fatal conditions, each of which is transmitted as a somatic dominant trait. A recognised trigger to attacks is dental treatment, with tooth extraction frequently reported in the literature. The clinical symptoms may not manifest for many hours or even days after the procedure. We describe a recent case in Australia in which death resulted from HAE following dental extraction, and we discuss its post-mortem presentation and diagnosis, highlighting the need for dental practitioners to be aware of this condition...
August 5, 2016: Australian Dental Journal
Zoltán Prohászka, Bo Nilsson, Ashley Frazer-Abel, Michael Kirschfink
In recent years, complement analysis of body fluids and biopsies, going far beyond C3 and C4, has significantly enhanced our understanding of the disease process. Such expanded complement analysis allows for a more precise differential diagnosis and for critical monitoring of complement-targeted therapy. These changes are a result of the growing understanding of the involvement of complement in a diverse set of disorders. To appreciate the importance of proper complement analysis, it is important to understand the role it plays in disease...
November 2016: Immunobiology
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