title: Overview of hereditary angioedema caused by C1-inhibitor deficiency: assessment and clinical management.
abstract: Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1-INH) is a rare, autosomal-dominant disease. HAE-C1-INH is characterized by recurrent attacks of marked, diffuse, nonpitting and nonpruritic skin swellings, painful abdominal attacks, and laryngeal edema. The extremities and the gastrointestinal tract are most commonly affected. Swelling of the upper respiratory mucosa poses the greatest risk because death from asphyxiation can result from laryngealedema. HAE-C1-INH attacks are variable, unpredictable, and may be induced by a variety of stimuli, including stress or physical trauma. Because the clinical presentation of HAE-C1-INH is similar to other types of angioedema, the condition may be a challenge to diagnose. Accurate identification of HAE-C1-INH is critical in order to avoid asphyxiation by laryngeal edema and to improve the burden of disease. Based on an understanding of the underlying pathophysiology of IHAE-C1-INH, drugs targeted specifically to the disease, such as C1-inhibitor therapy, bradykinin B2-receptor antagonists, and kallikrein-inhibitors, have become available for both treatment and prevention of angioedema attacks. This article reviews the clinical features, differential diagnosis, and current approaches to management of HAE-C1-INH.
authors.affiliation: Department of Dermatology, Johannes Gutenberg University, Mainz, Germany. konrad.bork@unimedizin-mainz.de
authors.forename: K
authors.initials: K
authors.lastname: Bork
authors.forename: M
authors.initials: M
authors.lastname: Davis-Lorton
mesh_terms: D003174:Complement C1 Inactivator Proteins / Q000172:deficiency* / Q000235:genetics; D050718:Complement C1 Inhibitor Protein; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D056829:Hereditary Angioedema Types I and II / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D016896:Treatment Outcome
chemical_list: D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human