Longhurst Hilary J, Bork Konrad
Consultant, Department of Immunology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ.
Univ.-Prof. Dr, Department of Dermatology, University Medical Center, Johannes Gutenberg University, Mainz, Germany.
Br J Hosp Med (Lond). 2019 Jul 2;80(7):391-398. doi: 10.12968/hmed.2019.80.7.391.
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.
遗传性血管性水肿是一种罕见的遗传性疾病，由C1酯酶抑制剂（C1-INH）缺乏引起，其特征是四肢、面部、肠道和气道反复出现严重肿胀。由于喉水肿可因窒息而危及生命，因此正确诊断和管理遗传性血管性水肿至关重要。遗传性血管性水肿发作由缓激肽介导，缓激肽的产生受C1-INH调节。遗传性血管性水肿的治疗依赖于急性发作的治疗以及短期和长期预防。急性治疗选择包括C1-INH浓缩物、依卡替班和艾卡拉肽。建议患者自行给药，这与遗传性血管性水肿患者生活质量的提高相关。诊断和管理方面的进展改善了遗传性血管性水肿患者的治疗效果和生活质量。
