title: Hereditary angioedema: a broad review for clinicians.
abstract: Hereditary angioedema (HAE) is an autosomal dominant disease that afflicts 1 in 10,000 to 1 in 150,000 persons; HAE has been reported in all races, and no sex predominance has been found. It manifests as recurrent attacks of intense, massive, localized edema without concomitant pruritus, often resulting from one of several known triggers. However, attacks can occur in the absence of any identifiable initiating event. Historically, 2 types of HAE have been described. However, a variant, possibly X-linked, inherited angioedema has recently been described, and tentatively it has been named "type 3" HAE. Signs and symptoms are identical in all types of HAE. Skin and visceral organs may be involved by the typically massive local edema. The most commonly involved viscera are the respiratory and gastrointestinal systems. Involvement of the upper airways can result in severe life-threatening symptoms, including the risk of asphyxiation, unless appropriate interventions are taken. Quantitative and functional analyses of C1 esterase inhibitor and complement components C4 and C1q should be performed when HAE is suspected. Acute exacerbations of the disease should be treated with intravenous purified C1 esterase inhibitor concentrate, where available. Intravenous administration of fresh frozen plasma is also useful in acute HAE; however, it occasionally exacerbates symptoms. Corticosteroids, antihistamines, and epinephrine can be useful adjuncts but typically are not efficacious in aborting acute attacks. Prophylactic management involves long-term use of attenuated androgens or antifibrinolytic agents. Clinicians should keep this disorder in their differential diagnosis of unexplained, episodic cutaneous angioedema or abdominal pain.
authors.affiliation: Division of Gastroenterology, E19B, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA.
authors.forename: U C
authors.initials: UC
authors.lastname: Nzeako
authors.forename: E
authors.initials: E
authors.lastname: Frigas
authors.forename: W J
authors.initials: WJ
authors.lastname: Tremaine
mesh_terms: D000208:Acute Disease; D000728:Androgens / Q000627:therapeutic use; D000799:Angioedema / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology / Q000378:metabolism / Q000628:therapy; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D000933:Antifibrinolytic Agents / Q000627:therapeutic use; D002908:Chronic Disease; D003167:Complement Activation / Q000276:immunology; D003174:Complement C1 Inactivator Proteins / Q000276:immunology / Q000378:metabolism / Q000627:therapeutic use; D015922:Complement C1q / Q000276:immunology / Q000378:metabolism; D003181:Complement C4 / Q000276:immunology / Q000378:metabolism; D003937:Diagnosis, Differential; D004837:Epinephrine / Q000627:therapeutic use; D005799:Genes, Dominant / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology / Q000378:metabolism / Q000628:therapy; D006634:Histamine H1 Antagonists / Q000627:therapeutic use; D006801:Humans; D010949:Plasma; D012307:Risk Factors; D013256:Steroids
chemical_list: D000728:Androgens; D000893:Anti-Inflammatory Agents; D000933:Antifibrinolytic Agents; D003174:Complement C1 Inactivator Proteins; D003181:Complement C4; D006634:Histamine H1 Antagonists; D013256:Steroids; D015922:Complement C1q; D004837:Epinephrine