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      Hereditary and acquired angioedema: Problems and progress: Proceedings of the third C1 esterase inhibitor deficiency workshop and beyond

      , MD, , MD, , MD, FRCPC, , , MD , , MD, CCA , , MD , , MPA, , MD , , MD, , MD, , PhD , , , MD, PhD , , MD, , MD, PhD, DSc, , MD, , MD, , MD, PhD, DSc , , MD, , PhD, , MD, PhD , , MD, PhD, , MD, , MD, , , MD, PhD, , MD, PhD, DSc, , , MD, , MD, PhD, , MD, PhD, DSc, , MA, MRCP, PhD, MRCPath , , MD, PhD , , MD, , PhD, , , , MD, PhD , , MD, PhD, , RGN, , PhD , , , , MD, , , , , PhD, FAMH, , MD, , MD, , MD, PhD , , MD, PhD , , PhD , , MD, , BS, MA, MFA, , , MD

      The Journal of Allergy and Clinical Immunology

      American Academy of Allergy, Asthma and Immunology. Published by Mosby, Inc.

      AAE, acquired angioedema, angioedema, C1 esterase inhibitor, C1-INH, HAE, HANE, HANO, hereditary angioedema, hereditary angioneurotic edema, angioneurotic edema, chemically induced angioedema, human SERPING1 protein, AAE, Acquired angioedema, AAEE, (Italian) Voluntary Association for the Study, Therapy, and Fight Against Hereditary Angioedema , ACE, Angiotensin-converting enzyme, APP, Aminopeptidase P, AT2, Angiotensin II, B19V, Parvovirus B19, BMD, Bone mineral density, BVDV, Bovine viral diarrhea virus, C1, First component of the complement cascade, C1-INH, C1 esterase inhibitor, C1nh, Murine C1 esterase inhibitor gene, C1NH, Human C1 esterase inhibitor gene, C2, Second component of the complement cascade, C3, Third component of the complement cascade, C4, Fourth component of the complement cascade, C5, Fifth component of the complement cascade, CCM, Chemical cleavage of mismatches, CH50, Total hemolytic complement, 50% cell lysis, Cmax, Maximum concentration, CPMP, Committee for Proprietary Medicinal Products, CPV, Canine parvovirus, DHPLC, Denaturing HPLC, FF, (Ovarian) follicular fluid, FFP, Fresh frozen plasma, HAE, Hereditary angioedema, HAE-I, Hereditary angioedema type I, HAE-II, Hereditary angioedema type II, HAEA, US HAE Association, HAV, Hepatitis A virus, HbsAg, Hepatitis B surface antigen, HBV, Hepatitis B virus, HCV, Hepatitis C virus, HK, High molecular weight kininogen, HRT, Hormone replacement therapy, HUVS, Hypocomplementemic urticaria-vasculitis syndrome, LH, Luteinizing hormone, MASP, Mannose-binding protein associated serine protease, MBL, Mannan-binding lectin, MFO, Multifollicular ovary, MGUS, Monoclonal gammopathies of undetermined significance, Mr, Molecular mass, NAT, Nucleic acid amplification technique, NEP, Neutral endopeptidase, OC, Oral contraceptive, OMIM, Online Mendelian Inheritance in Man (database), PCO, Polycystic ovary, PCT, Primary care trust, PREHAEAT, Novel Methods for Predicting, Preventing, and Treating Attacks in Patients with Hereditary Angioedema , PRV, Pseudorabies virus, rhC1-INH, Recombinant human C1 esterase inhibitor, rtPA, Recombinant tissue-type plasminogen activator, SHBG, Sex hormone binding globulin, SSCA, Single-stranded conformational analysis, tPA, Tissue-type plasminogen activator, UK, United Kingdom

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          Abstract

          Hereditary angioedema (HAE), a rare but life-threatening condition, manifests as acute attacks of facial, laryngeal, genital, or peripheral swelling or abdominal pain secondary to intra-abdominal edema. Resulting from mutations affecting C1 esterase inhibitor (C1-INH), inhibitor of the first complement system component, attacks are not histamine-mediated and do not respond to antihistamines or corticosteroids. Low awareness and resemblance to other disorders often delay diagnosis; despite availability of C1-INH replacement in some countries, no approved, safe acute attack therapy exists in the United States. The biennial C1 Esterase Inhibitor Deficiency Workshops resulted from a European initiative for better knowledge and treatment of HAE and related diseases. This supplement contains work presented at the third workshop and expanded content toward a definitive picture of angioedema in the absence of allergy. Most notably, it includes cumulative genetic investigations; multinational laboratory diagnosis recommendations; current pathogenesis hypotheses; suggested prophylaxis and acute attack treatment, including home treatment; future treatment options; and analysis of patient subpopulations, including pediatric patients and patients whose angioedema worsened during pregnancy or hormone administration. Causes and management of acquired angioedema and a new type of angioedema with normal C1-INH are also discussed. Collaborative patient and physician efforts, crucial in rare diseases, are emphasized. This supplement seeks to raise awareness and aid diagnosis of HAE, optimize treatment for all patients, and provide a platform for further research in this rare, partially understood disorder.

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          Most cited references 442

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          A novel coronavirus associated with severe acute respiratory syndrome.

          A worldwide outbreak of severe acute respiratory syndrome (SARS) has been associated with exposures originating from a single ill health care worker from Guangdong Province, China. We conducted studies to identify the etiologic agent of this outbreak. We received clinical specimens from patients in seven countries and tested them, using virus-isolation techniques, electron-microscopical and histologic studies, and molecular and serologic assays, in an attempt to identify a wide range of potential pathogens. None of the previously described respiratory pathogens were consistently identified. However, a novel coronavirus was isolated from patients who met the case definition of SARS. Cytopathological features were noted in Vero E6 cells inoculated with a throat-swab specimen. Electron-microscopical examination revealed ultrastructural features characteristic of coronaviruses. Immunohistochemical and immunofluorescence staining revealed reactivity with group I coronavirus polyclonal antibodies. Consensus coronavirus primers designed to amplify a fragment of the polymerase gene by reverse transcription-polymerase chain reaction (RT-PCR) were used to obtain a sequence that clearly identified the isolate as a unique coronavirus only distantly related to previously sequenced coronaviruses. With specific diagnostic RT-PCR primers we identified several identical nucleotide sequences in 12 patients from several locations, a finding consistent with a point-source outbreak. Indirect fluorescence antibody tests and enzyme-linked immunosorbent assays made with the new isolate have been used to demonstrate a virus-specific serologic response. This virus may never before have circulated in the U.S. population. A novel coronavirus is associated with this outbreak, and the evidence indicates that this virus has an etiologic role in SARS. Because of the death of Dr. Carlo Urbani, we propose that our first isolate be named the Urbani strain of SARS-associated coronavirus. Copyright 2003 Massachusetts Medical Society
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            The serpins are an expanding superfamily of structurally similar but functionally diverse proteins. Evolution, mechanism of inhibition, novel functions, and a revised nomenclature.

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              Epidemiology and estimated population burden of selected autoimmune diseases in the United States.

              Autoimmune diseases cause significant and chronic morbidity and disability. The actual number of persons in the United States that are affected by autoimmune diseases and the resultant magnitude of their impact on the public's health are limited to a few specific diseases. In order to understand the clinical, public health and economic importance of these diseases it is necessary to have estimates of incidence and prevalence rates in the population. In this analysis, we estimate the number of persons affected by 24 autoimmune diseases in the United States by applying mean weighted prevalence and incidence rates obtained from published articles to U. S. Census data. The study was restricted to 24 autoimmune predefined diseases for which there was direct or indirect evidence for autoimmune pathogenesis. Subsequently, we used computerized search software and ancestry searching (bibliographies) to conduct a comprehensive search of articles published from 1965 to the present. Eligible studies included those which adhered to standard disease definitions and which included population-based estimates of incidence or prevalence rates. Mean weighted incidence and prevalence rates were calculated from eligible published studies with greater weight proportionately given to larger studies. The mean rates were then applied to the U.S. Census population figures to estimate the number of persons currently afflicted with each disease and the number of new cases occurring each year in the United States. Only U.S. and European studies were used to estimate prevalence and incidence rates when there were at least six eligible studies available for a disease. When there were fewer than six studies, all available studies were included, regardless of country of origin. The number of eligible incidence and prevalence studies found in the literature varied considerably between the 24 autoimmune diseases selected. The largest number of eligible prevalence studies were conducted on multiple sclerosis (MS), rheumatoid arthritis, and systemic lupus erythematosus (SLE) (>/=23), followed by insulin-dependent diabetes (IDDM), myasthenia gravis, primary biliary cirrhosis, and scleroderma (>/=7). There were only one to four eligible studies done on 11 other diseases, and no prevalence studies on 6 diseases. Incidence studies were less frequent but the largest number of studies were conducted on IDDM (n = 37) and MS (n = 28), followed by Graves' disease/hyperthyroidism, glomerulonephritis, primary biliary cirrhosis, rheumatic fever, rheumatoid arthritis, scleroderma, and SLE (>/=9). On the other 11 diseases, there were one to six eligible studies, and no studies on 5 diseases. There were no eligible incidence or prevalence studies on Goodpasture's syndrome, idiopathic thrombocytopenia purpura, or relapsing polychondritis. Overall we estimate that 8,511,845 persons in the United States or approximately 1 in 31 Americans are currently afflicted with one of these autoimmune diseases. The diseases with the highest prevalence rates were Graves'/hyperthyroidism, IDDM, pernicious anemia, rheumatoid arthritis, thyroiditis, and vitiligo, comprising an estimated 7,939, 280 people or 93% of the total number estimated. Glomerulonephritis, MS, and SLE added an estimated 323,232 people. The prevalence of the other diseases reviewed were rare, less than 5.14/100,000. Most diseases were more common in women. From the incidence data we estimate that 237,203 Americans will develop an autoimmune disease in 1996 and that approximately 1,186,015 new cases of these autoimmune diseases occur in the United States every 5 years. Women were at 2.7 times greater risk than men to acquire an autoimmune disease. After reviewing the medical literature for incidence and prevalence rates of 24 autoimmune diseases, we conclude that many autoimmune diseases are infrequently studied by epidemiologists. As a result the total burden of disease may be an underestimate. (ABSTRACT TRUNCATED)
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                Author and article information

                Journal
                J Allergy Clin Immunol
                J. Allergy Clin. Immunol
                The Journal of Allergy and Clinical Immunology
                American Academy of Allergy, Asthma and Immunology. Published by Mosby, Inc.
                0091-6749
                1097-6825
                11 September 2004
                September 2004
                11 September 2004
                : 114
                : 3
                : S51-S131
                Author notes
                [∗]

                Members of the PREHAEAT European Union network.

                Article
                S0091-6749(04)01757-9
                10.1016/j.jaci.2004.06.047
                7119155
                15356535
                Copyright © 2004 American Academy of Allergy, Asthma and Immunology. Published by Mosby, Inc. All rights reserved.

                Since January 2020 Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre - including this research content - immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active.

                Categories
                Article

                Immunology

                angioedema, acquired angioedema, uk, united kingdom, tpa, tissue-type plasminogen activator, ssca, single-stranded conformational analysis, shbg, sex hormone binding globulin, rtpa, recombinant tissue-type plasminogen activator, rhc1-inh, recombinant human c1 esterase inhibitor, prv, pseudorabies virus, prehaeat, novel methods for predicting, preventing, and treating attacks in patients with hereditary angioedema, pct, primary care trust, pco, polycystic ovary, omim, online mendelian inheritance in man (database), oc, oral contraceptive, nep, neutral endopeptidase, nat, nucleic acid amplification technique, mr, molecular mass, mgus, monoclonal gammopathies of undetermined significance, mfo, multifollicular ovary, mbl, mannan-binding lectin, masp, mannose-binding protein associated serine protease, lh, luteinizing hormone, huvs, hypocomplementemic urticaria-vasculitis syndrome, hrt, hormone replacement therapy, hk, high molecular weight kininogen, hcv, hepatitis c virus, hbv, hepatitis b virus, hbsag, hepatitis b surface antigen, hav, hepatitis a virus, haea, us hae association, hae-ii, hereditary angioedema type ii, hae-i, hereditary angioedema type i, hae, hereditary angioedema, ffp, fresh frozen plasma, ff, (ovarian) follicular fluid, dhplc, denaturing hplc, cpv, canine parvovirus, cpmp, committee for proprietary medicinal products, cmax, maximum concentration, ch50, total hemolytic complement, 50% cell lysis, ccm, chemical cleavage of mismatches, c5, fifth component of the complement cascade, c4, fourth component of the complement cascade, c3, third component of the complement cascade, c2, second component of the complement cascade, c1nh, human c1 esterase inhibitor gene, c1nh, murine c1 esterase inhibitor gene, c1-inh, c1 esterase inhibitor, c1, first component of the complement cascade, bvdv, bovine viral diarrhea virus, bmd, bone mineral density, b19v, parvovirus b19, at2, angiotensin ii, app, aminopeptidase p, ace, angiotensin-converting enzyme, aaee, (italian) voluntary association for the study, therapy, and fight against hereditary angioedema, aae, acquired angioedema, human serping1 protein, chemically induced angioedema, angioneurotic edema, hereditary angioneurotic edema, hereditary angioedema, hano, hane, hae, c1-inh, c1 esterase inhibitor, aae

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