From the Clinical Fellow, Department of Pediatrics, Division of Emergency Medicine, Cincinnati Children's Hospital Medical Center, and University of Cincinnati Department of Pediatrics.
Professor of Medicine, Department of Internal Medicine, Division of Immunology/Allergy, University of Cincinnati Medical Center.
Pediatr Emerg Care. 2021 Apr 1;37(4):218-223. doi: 10.1097/PEC.0000000000002402.
Hereditary angioedema (HAE) is a rare, often underrecognized genetic disorder caused by either a C1 esterase inhibitor deficiency (type 1) or mutation (type 2). This leads to overproduction of bradykinin resulting in vasodilation, vascular leakage, and transient nonpitting angioedema occurring most frequently in the face, neck, upper airway, abdomen, and/or extremities. Involvement of the tongue and laryngopharynx has been associated with asphyxiation and death. Hereditary angioedema is an autosomal-dominant condition; therefore, there is a 50% chance an offspring will inherit this disorder. Any patient presenting with isolated angioedema should be screened with a C4 measurement, as 25% of cases have no family history of HAE. All patients with HAE will have a functional deficiency of C1 esterase inhibitor. Contributors that delay the diagnosis of HAE include recognition delay by clinicians who confuse this condition with histaminergic angioedema, the disease's varied presentations, and limitations to timely testing. Pediatric emergency clinicians should be knowledgeable about how to distinguish between bradykinin- and histamine-mediated angioedema, as there are significant differences in the diagnostic testing, treatment, and clinical response between these 2 different conditions. Evidence indicates that early diagnosis and treatment of HAE reduces morbidity and mortality. Clinician recognition of the mechanistically different problems will ensure patients are appropriately referred to an expert for outpatient management.
遗传性血管性水肿（HAE）是一种罕见的、常被低估的遗传性疾病，由 C1 酯酶抑制剂缺乏（1 型）或突变（2 型）引起。这会导致缓激肽的过度产生，从而导致血管扩张、血管渗漏，并导致面部、颈部、上呼吸道、腹部和/或四肢出现短暂的非凹陷性血管性水肿。舌和喉咽部受累与窒息和死亡有关。遗传性血管性水肿是一种常染色体显性遗传疾病；因此，有 50%的机会后代会遗传这种疾病。任何出现孤立性血管性水肿的患者都应进行 C4 测量筛查，因为 25%的病例无 HAE 家族史。所有 HAE 患者的 C1 酯酶抑制剂功能均有缺陷。导致 HAE 诊断延迟的因素包括临床医生的识别延迟，他们将这种情况与组胺能血管性水肿混淆，疾病的多种表现形式，以及及时检测的限制。儿科急诊临床医生应该了解如何区分缓激肽和组胺介导的血管性水肿，因为这两种不同疾病在诊断检测、治疗和临床反应方面存在显著差异。有证据表明，早期诊断和治疗 HAE 可降低发病率和死亡率。临床医生对不同机制问题的认识将确保患者被恰当地转介给专家进行门诊管理。
