Department of Medicine, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Department of Medical Images, Hematology and Clinical Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
Int Arch Allergy Immunol. 2020;181(12):941-946. doi: 10.1159/000509805. Epub 2020 Sep 7.
Acquired angioedema due to C1 inhibitor deficiency (AAE-C1-INH) is a very rare disease. In clinical practice, it may be difficult to differentiate AAE-C1-INH from hereditary angioedema due to C1-INH deficiency (HAE-C1-INH). In both conditions, patients are at an increased risk of death from asphyxiation due to upper airway obstruction. The association of AAE-C1-INH with lymphoproliferative and autoimmune diseases, and with presence of anti-C1-INH antibodies has been well documented, and treatment of the underlying condition may result in complete remission of angioedema.
To discuss the clinical evaluation, diagnosis, and treatment outcomes of AAE-C1-INH in the context of the care of 2 patients with recurrent isolated angioedema.
Two patients were followed up prospectively at our clinic. Measurements of C3, C4, C1-INH, and C1q levels were carried out by nephelometry, and the functional activity of C1-INH was determined by a chromogenic assay. Hematological investigation included morphological and immunophenotyping analysis of peripheral blood, bone marrow, and spleen histopathology. Sequencing of the 8 exons and adjacent intronic regions of the SERPING1 gene was performed using the Sanger method.
Two patients were diagnosed with AAE-C1-INH associated with splenic marginal zone lymphoma during follow-up.
Close follow-up, including detailed clinical history, physical examination, and laboratory tests, of our patients with AAE-C1-INH was essential for the early diagnosis and successful treatment of the lymphoproliferative disease, leading to the resolution of the angioedema attacks.
C1 抑制剂缺乏引起的获得性血管性水肿（AAE-C1-INH）是一种非常罕见的疾病。在临床实践中，AAE-C1-INH 可能难以与 C1-INH 缺乏引起的遗传性血管性水肿（HAE-C1-INH）相区分。在这两种情况下，患者都有因上呼吸道阻塞导致窒息而死亡的风险增加。AAE-C1-INH 与淋巴增生性和自身免疫性疾病的关联，以及抗 C1-INH 抗体的存在已得到充分证实，治疗潜在疾病可能导致血管性水肿完全缓解。
讨论在对 2 例复发性孤立性血管性水肿患者进行护理的背景下，AAE-C1-INH 的临床评估、诊断和治疗结果。
对 2 例患者进行前瞻性随访。通过散射比浊法测量 C3、C4、C1-INH 和 C1q 水平，通过显色测定法测定 C1-INH 的功能活性。血液学检查包括外周血、骨髓和脾脏组织病理学的形态学和免疫表型分析。采用 Sanger 法对 SERPING1 基因的 8 个外显子和相邻内含子区域进行测序。
在随访过程中，2 例患者被诊断为与边缘区淋巴瘤相关的 AAE-C1-INH。
对我们的 AAE-C1-INH 患者进行密切随访，包括详细的临床病史、体格检查和实验室检查，对于早期诊断和成功治疗淋巴增生性疾病至关重要，这导致了血管性水肿发作的缓解。
