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Indexed/Abstracted in: BIOSIS Previews, EMBASE, Scopus, Emerging Sources Citation Index
Online ISSN 1827-1812
Luigi Sacco Department of Clinical Sciences, University of Milan, Milan, Italy
Hereditary angioedema (HAE) is a rare genetic disease (with an estimated prevalence of 1:50,000 in the general population) caused by a deficiency of C1 inhibitor (C1-INH). The clinical features of HAE include unpredictable, recurrent swelling of the subcutaneous and submucosal tissues that can manifest as peripheral edema, abdominal pain, and life-threatening laryngeal edema leading to airway obstruction and asphyxiation. A wide range of variability in angioedema frequency and severity exists among patients and even within the same patient from time to time. Such disabling edema in various locations of the body, along with severe abdominal pain and the persistent risk of asphyxiation secondary to laryngeal edema, has a significant impact on patients’ quality of life and physical and psychological well-being. Major challenges to the effective management of HAE include diagnostic difficulties due to symptoms that overlap with other disorders and the need for disease-specific therapeutic interventions. HAE is lethal in 25-30% of affected patients in the absence of correct diagnosis and/or treatment, and rare fatalities have been documented even in diagnosed patients and when treatment is not promptly administered. To effectively treat HAE, physicians must recognize the clinical characteristics of HAE, be able to distinguish HAE from other forms of angioedema, and be aware of the optimal treatment strategies for this disorder. This review discusses the clinical presentation, diagnosis, and treatment of HAE from the internist’s perspective.