UCLA School of Medicine, Los Angeles, CA, USA.
Division of Allergy and Immunology, Providence St. John Medical Center, Santa Monica, CA, USA.
Clin Pediatr (Phila). 2023 Oct;62(9):973-980. doi: 10.1177/00099228231155703. Epub 2023 Mar 12.
Hereditary angioedema (HAE) is a rare autosomal-dominant disorder; most cases are characterized by low plasma levels of C1 esterase inhibitor (C1-INH). Clinical manifestations of HAE due to C1-INH deficiency include unpredictable, acute, recurrent episodes of nonpruritic swelling that can affect the face, trunk, limbs, and the respiratory, gastrointestinal, and genitourinary tracts. Attacks can be disfiguring, disabling, painful, and even life-threatening if laryngeal swelling occurs. Symptoms of HAE generally manifest in childhood. Effective medications are available and approved to treat HAE in children. However, evidence informing use of these medications in pediatric clinical practice is limited. Hereditary angioedema management plans are critical to optimize outcomes and should address on-demand treatment for acute attacks and plans to prevent potentially fatal laryngeal attacks. The plan should also comprise a holistic approach to address nonclinical aspects of HAE, including quality of life (QoL) and psychological issues. This article provides an overview of HAE management principles that health care providers can apply to treat pediatric patients to improve their QoL.
遗传性血管性水肿（HAE）是一种罕见的常染色体显性遗传疾病；大多数病例的特征是血浆 C1 酯酶抑制剂（C1-INH）水平降低。由于 C1-INH 缺乏引起的 HAE 的临床表现包括不可预测的、急性的、复发性的非瘙痒性肿胀，可影响面部、躯干、四肢以及呼吸、胃肠道和泌尿生殖道。如果发生喉头肿胀，发作可能会导致毁容、致残、疼痛，甚至有生命危险。HAE 的症状通常在儿童时期表现出来。目前已有有效的药物可用于治疗儿童 HAE，并且已获得批准。然而，关于这些药物在儿科临床实践中应用的证据有限。遗传性血管性水肿的管理计划对于优化治疗效果至关重要，应包括针对急性发作的按需治疗计划和预防潜在致命性喉头发作的计划。该计划还应包括解决非临床方面的 HAE 的整体方法，包括生活质量（QoL）和心理问题。本文概述了医疗保健提供者可以应用于治疗儿科患者以提高其生活质量的 HAE 管理原则。
