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      Diagnosis and treatment of hereditary angioedema with normal C1 inhibitor

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          Abstract

          Until recently it was assumed that hereditary angioedema is a disease that results exclusively from a genetic deficiency of the C1 inhibitor. In 2000, families with hereditary angioedema, normal C1 inhibitor activity and protein in plasma were described. Since then numerous patients and families with that condition have been reported. Most of the patients by far were women. In many of the affected women, oral contraceptives, hormone replacement therapy containing estrogens, and pregnancies triggered the clinical symptoms. Recently, in some families mutations in the coagulation factor XII (Hageman factor) gene were detected in the affected persons.

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          Hereditary angioedema: new findings concerning symptoms, affected organs, and course.

          Jochen Hardt, G. Meng, Petra Staubach … (2006)
          Hereditary angioedema (HAE) due to C1 inhibitor deficiency is clinically characterized by relapsing skin swellings, abdominal pain attacks, and life-threatening upper airway obstruction. Our aim was to examine a temporal and spatial pattern of the edema episodes by evaluating the long-term course of hereditary angioedema in order to establish a specific swelling pattern. Data were generated from 221 patients with C1 inhibitor deficiency by asking them about symptoms they experienced during their edema episodes. Documentation was accomplished through the use of standardized questionnaires. A total of 131110 edema episodes were observed. Clinical symptoms started at a mean age of 11.2 (SD 7.7) years. During the following cumulative 5736 years, only 370 (6.5%) symptom-free years occurred. Skin swellings, including extremity, facial, genital, and trunk swellings, and abdominal attacks occurred in 97.4% of all edema episodes of the disease. The other episodes were laryngeal edema (0.9%); edema of the soft palate (0.6%); tongue swellings (0.3%); headache episodes (0.7%); episodes affecting urinary bladder (0.3%), chest (0.2%), muscles (0.4%), joints (0.1%), kidneys (0.1%), and esophagus (0.05%), and were partly combined with other edema episodes. The per-patient analysis and the per-episode analysis revealed markedly discrepant results. On average, women had a more severe course of the disease than men. Patients with early onset of clinical symptoms were affected more severely than those with late onset. The described swelling pattern is specific for HAE and allows a tentative diagnosis based on clinical symptoms and the course of the disease.
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            Asphyxiation by laryngeal edema in patients with hereditary angioedema.

            W. Kreuz, Danny S. Bosch, R Schopf … (2000)
            To describe the occurrence of fatal laryngeal edema in patients with hereditary angioedema due to C1 esterase inhibitor deficiency. We describe 6 patients from various regions of Germany who died from laryngeal edema within the last 10 years. Furthermore, we conducted a retrospective survey of 58 patients with hereditary angioedema, originating from 46 affected families. The data were obtained from the attending physicians and from the patients' relatives. Among the 6 reported patients, aged 9 to 78 years, hereditary angioedema had been diagnosed in 3 and was undiagnosed in 3. None of them had an emergency cricothyrotomy or received C1 inhibitor concentrate. The interval between onset of the laryngeal edema and asphyxiation was 20 minutes in a 9-year-old boy, and in the other patients, the interval was 1 to 14 hours (mean for all, 7 hours). The retrospective survey of 58 patients with hereditary angioedema revealed 23 deaths by asphyxiation (40%). The average age of all 29 patients at the time of asphyxiation was 39 years. Laryngeal edema in hereditary angioedema may be fatal. Most of the patients asphyxiated between their 20th and 50th years of life, but asphyxiation can occur even in children. The possibility that the first episode of laryngeal edema may be fatal must be emphasized to the relatives, and attending physicians must have a high degree of awareness.
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              Clinical studies of sudden upper airway obstruction in patients with hereditary angioedema due to C1 esterase inhibitor deficiency.

              Karl-Heinz Schicketanz, Nina Ressel, Jochen Hardt … (2003)
              Hereditary angioedema due to C1 esterase inhibitor deficiency is clinically characterized by recurrent and self-limiting skin, intestinal, and laryngeal edema. Asphyxiation by laryngeal edema is the main cause of death among patients who die of hereditary angioedema. This study describes the age at which laryngeal edema first occurs, the time between onset and full development, and the effectiveness of therapy and prophylaxis. Information on 123 patients with hereditary angioedema was obtained from medical histories and reports by the general practitioners, emergency physicians, and hospitals involved. Sixty-one patients (49.6%) experienced a total of 596 laryngeal edema episodes. The ratio of laryngeal edema episodes to skin swellings and abdominal pain attacks was approximately 1:70:54 in patients who had laryngeal edema. The mean (SD) age at the first laryngeal edema was 26.2 (15.3) years. Nearly 80% of the laryngeal edemas occurred between the ages of 11 and 45 years. The mean interval between onset and maximum development of laryngeal edema was 8.3 hours. A total of 342 laryngeal edemas cleared spontaneously without treatment, and 208 laryngeal edemas were successfully treated with C1 esterase inhibitor concentrate. Despite long-term prophylactic treatment with danazol, 6 patients developed subsequent laryngeal edemas. Laryngeal edema may occur at any age, although young adults are at greatest risk. In adults, the interval between onset of symptoms and acute risk of asphyxiation is usually long enough to allow for use of appropriate emergency procedures. To prevent a fatal outcome, it is essential to instruct patients and their relatives about the first signs of laryngeal edemas and the necessary procedures to follow.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Allergy Asthma Clin Immunol
                Title: Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
                Publisher: BioMed Central
                ISSN (Print): 1710-1484
                ISSN (Electronic): 1710-1492
                Publication date Collection: 2010
                Publication date (Electronic): 28 July 2010
                Volume: 6
                Issue: 1
                Page: 15
                Affiliations
                [1 ]Department of Dermatology, Johannes Gutenberg University, Mainz, Germany
                Article
                Publisher ID: 1710-1492-6-15
                DOI: 10.1186/1710-1492-6-15
                PMC ID: 2919521
                PubMed ID: 20667118
                SO-VID: a853f19f-d581-40dc-8e56-cdfaffab8e92
                Copyright © Copyright ©2010 Bork; licensee BioMed Central Ltd.
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 19 April 2010
                Date accepted : 28 July 2010
                Categories
                Subject: Review

                ScienceOpen disciplines: Immunology
                Data availability:
                ScienceOpen disciplines: Immunology

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