Department of Dermatovenereology, Karolinska Hospital and Department of Medicine, Karolinska Institute, Stockholm, Sweden.
Department of Internal Medicine, National Reference Centre for Angioedema, Grenoble University Hospital, Boulevard de la Chantourne, 38700 La Tronche, France.
Autoimmun Rev. 2015 Jun;14(6):564-8. doi: 10.1016/j.autrev.2015.02.001. Epub 2015 Feb 4.
Hereditary angioedema (HAE) is a rare genetic disorder that is primarily caused by a defect in the C1 inhibitor (C1-INH). The recurrent symptoms are subcutaneous edema and abdominal pain. Laryngeal edema, which can also occur, is life threatening if it goes untreated. HAE can be associated with some inflammatory and autoimmune disorders, particularly lupus. The aim of this study was to describe cases of lupus among HAE patients in France and to perform a literature review of lupus and HAE studies. Case detection and data collection (a standardized form) were performed, thanks to the French Reference Center for Kinin-related angioedema. Data were collected from 6 patients with type 1 HAE and lupus in France; no cases of systemic lupus erythematosus were reported. In the literature review, 32 cases of lupus combined with HAE were identified, including 26 female patients. The median patient age at the time of first reported HAE symptoms and at diagnosis were 17.5 years (range, 9-41 years) and 19 years (range, 9-64 years), respectively for our 6 patients and 14 years (range, 3-30 years) and 17 years (range, 7-48 years), respectively, for the literature review. The clinical manifestations of HAE were mainly abdominal pain (83% in our patients vs 47% in the literature) and edema of the limbs (83% vs 38%). The C4 levels were low (for 100% of our cases vs 93% in the literature). Eighteen patients in the literature demonstrated HAE symptoms prior to the lupus onset vs 5 for our patients. The mean patient age at lupus onset was 20 years (range, 13-76 years) for our patients and 19.5 years (range, 1-78 years) in the literature, respectively. In the literature, 81% of the patients had skin manifestations, 25% had renal involvement and 28% received systemic steroids to treat lupus. Treatment with danazol did not modify the clinical expression of lupus. The association between lupus and HAE is a rare but not unanticipated event. Patients are often symptomatic for HAE before developing lupus. Lupus cases associated with HAE share some characteristics of lupus cases related to other complement deficiencies, such as the absence of severity and the predominance of cutaneous symptoms.
遗传性血管性水肿 (HAE) 是一种罕见的遗传性疾病，主要由 C1 抑制剂 (C1-INH) 缺陷引起。其反复发作的症状为皮下水肿和腹痛。喉部水肿也可能发生，如果不治疗，会有生命危险。HAE 可与某些炎症性和自身免疫性疾病相关，特别是狼疮。本研究的目的是描述法国 HAE 患者中的狼疮病例，并对狼疮和 HAE 研究进行文献回顾。病例检测和数据收集（使用标准化表格）是通过法国激肽相关血管性水肿参考中心完成的。从法国的 6 名患有 1 型 HAE 和狼疮的患者中收集了数据；没有报告系统性红斑狼疮病例。在文献综述中，共发现 32 例狼疮合并 HAE 的病例，包括 26 名女性患者。我们的 6 名患者中，首次报告 HAE 症状和确诊时的中位年龄分别为 17.5 岁（范围为 9-41 岁）和 19 岁（范围为 9-64 岁），文献综述中的年龄中位数分别为 14 岁（范围为 3-30 岁）和 17 岁（范围为 7-48 岁）。HAE 的临床表现主要为腹痛（我们的患者中为 83%，文献中为 47%）和四肢水肿（83%对 38%）。C4 水平低（我们的病例中为 100%，文献中为 93%）。文献中有 18 名患者在狼疮发病前出现 HAE 症状，而我们的患者中只有 5 名。我们的患者中狼疮发病的中位年龄为 20 岁（范围为 13-76 岁），文献中的年龄中位数为 19.5 岁（范围为 1-78 岁）。文献中，81%的患者有皮肤表现，25%有肾脏受累，28%接受全身类固醇治疗狼疮。达那唑治疗并未改变狼疮的临床表现。狼疮与 HAE 的关联是一种罕见但并非意料之外的事件。患者通常在出现狼疮之前就有 HAE 的症状。与 HAE 相关的狼疮病例与与其他补体缺陷相关的狼疮病例具有一些共同特征，例如无严重性和以皮肤症状为主。
