Open AccessHereditary angioedema: an update on causes, manifestations and treatment
Author(s) -
Hilary Longhurst,
Konrad Bork
Publication year - 2019
Publication title -
british journal of hospital medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.196
H-Index - 28
eISSN - 1759-7390
pISSN - 1750-8460
DOI - 10.12968/hmed.2019.80.7.391
Subject(s) - hereditary angioedema , medicine , icatibant , angioedema , bradykinin , c1 inhibitor , dermatology , intensive care medicine , quality of life (healthcare) , receptor , nursing
Hereditary angioedema is a rare genetic disorder caused by deficiency of C1 esterase inhibitor (C1-INH) and characterized by recurrent episodes of severe swelling that affect the limbs, face, intestinal tract and airway. Since laryngeal oedema can be life-threatening as a result of asphyxiation, correct diagnosis and management of hereditary angioedema is vital. Hereditary angioedema attacks are mediated by bradykinin, the production of which is regulated by C1-INH. Hereditary angioedema therapy relies on treatment of acute attacks, and short- and long-term prophylaxis. Acute treatment options include C1-INH concentrate, icatibant and ecallantide. Self-administration of treatment is recommended and is associated with increased quality of life of patients with hereditary angioedema. Advances in diagnosis and management have improved the outcomes and quality of life of patients with hereditary angioedema.