Bara Noémi-Anna, Nadasan Valentin
Hereditary Angioedema Expertise Centre, Sangeorgiu De Mures, Mures Romania.
George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, Mures Romania.
J Crit Care Med (Targu Mures). 2021 May 12;7(2):136-140. doi: 10.2478/jccm-2021-0003. eCollection 2021 Apr.
Laryngeal oedema caused by acquired angioedema due to C1-inhibitor deficiency (C1-INH-AAE) is a life-threatening condition. The swelling is bradykinin mediated and will not respond to the usual treatment with antihistamines, corticosteroids, or epinephrine. Instead, kallikrein-bradykinin-targeted therapies should be used promptly to prevent asphyxiation.
A 43 years old female presented at the Hereditary Angioedema Centre reporting a one-year history of peripheral, facial, and neck oedema. Treatment with antihistamines and corticosteroids had been ineffective. Laboratory results showed complement level deficiencies and monoclonal gammopathy characterised as immunoglobulin M. An abdominal ultrasound revealed splenomegaly. A bone marrow biopsy was normal. Based on these data, the diagnosis of C1-INH-AAE associated with monoclonal gammopathy of uncertain significance (MGUS) was made. As C1-INH-AAE can present with life-threatening, standard treatment-resistant laryngeal oedema, an emergency care treatment plan was proposed, and the patient was advised to present to the emergency department (ED) with this medical letter. Based on these recommendations, three laryngeal attacks were successfully treated in the ED with recombinant human C1-inhibitor (two attacks) and fresh frozen plasma (one attack). After these episodes, the patient was prescribed prophylactic treatment with antifibrinolytics. No further angioedema attacks were reported by the patient at the 18 months follow-up visit.
Because angioedema of the upper airways is a life-threatening condition, recognising the specific type of swelling by the emergency physician is critical in providing immediate and effective treatment to reduce the associated risk of asphyxiation. C1-INH-AAE being a rare disorder, patients should have available an emergency care treatment plan with recommendations of acute treatment possibilities.
由C1抑制剂缺乏引起的获得性血管性水肿（C1-INH-AAE）导致的喉水肿是一种危及生命的疾病。肿胀由缓激肽介导，对组胺拮抗剂、皮质类固醇或肾上腺素的常规治疗无反应。相反，应立即使用针对激肽释放酶-缓激肽的疗法以防止窒息。
一名43岁女性到遗传性血管性水肿中心就诊，报告有外周、面部和颈部水肿病史一年。组胺拮抗剂和皮质类固醇治疗无效。实验室结果显示补体水平缺乏以及特征为免疫球蛋白M的单克隆丙种球蛋白病。腹部超声显示脾肿大。骨髓活检正常。基于这些数据，做出了与意义未明的单克隆丙种球蛋白病（MGUS）相关的C1-INH-AAE的诊断。由于C1-INH-AAE可表现为危及生命的、对标准治疗耐药的喉水肿，因此提出了紧急护理治疗方案，并建议患者携带此医疗信函前往急诊科（ED）。根据这些建议，在ED中使用重组人C1抑制剂（两次发作）和新鲜冷冻血浆（一次发作）成功治疗了三次喉发作。在这些发作之后，为患者开了抗纤维蛋白溶解剂的预防性治疗药物。在18个月的随访中，患者未报告进一步的血管性水肿发作。
由于上呼吸道血管性水肿是一种危及生命的疾病，急诊科医生识别肿胀的具体类型对于提供立即有效的治疗以降低相关窒息风险至关重要。C1-INH-AAE是一种罕见疾病，患者应备有包含急性治疗可能性建议的紧急护理治疗方案。
