Ushio Yusuke, Wakiya Risa, Kameda Tomohiro, Nakashima Shusaku, Shimada Hiromi, Mansour Mai Mahmoud Fahmy, Kato Mikiya, Miyagi Taichi, Sugihara Koichi, Mino Rina, Mizusaki Mao, Ibuki Emi, Kadowaki Norimitsu, Dobashi Hiroaki
Division of Hematology, Rheumatology and Respiratory Medicine, Department of Internal Medicine, Faculty of Medicine, Kagawa University, 1750-1 Ikenobe, Miki-cho, Kita-gun, Kagawa, 761-0793, Japan.
Department of Diagnostic Pathology, Faculty of Medicine, Kagawa University, Kagawa, Japan.
Allergy Asthma Clin Immunol. 2022 Sep 18;18(1):84. doi: 10.1186/s13223-022-00725-8.
Hereditary angioedema (HAE) is an inherited disease characterized by recurrent angioedema without urticaria or pruritus. The most common types of HAE are caused by deficiency or dysfunction in C1 esterase inhibitor (C1-INH-HAE). The association between C1-INH-HAE and systemic lupus erythematosus (SLE) is known; however, variations in the underlying pathophysiology, disease course, and treatment in this population remain incompletely understood.
A 31-year-old Japanese woman with a prior diagnosis of HAE type 1 based on the episodes of recurrent angioedema, low C1 inhibitor antigen levels and function, and family history presented with new complaints of malar rash, alopecia, and arthralgias in her hands and elbows. She later developed fever, oral ulcers, lupus retinopathy, a discoid rash localized to her chest, and malar rash. Investigations revealed positive antinuclear antibody, leukopenia, thrombocytopenia, hypocomplementemia, and nephritis. Based on these findings, she was diagnosed with SLE according to the 2019 European League Against Rheumatism/American College of Rheumatology classification criteria. There did not appear to be a correlation between HAE disease activity and the timing of presentation with SLE, because HAE disease activity had been stable. The patient was able to achieve and maintain remission with immunosuppressive therapy including prednisolone, hydroxychloroquine, and tacrolimus.
Our patient presented with a variety of symptoms, including fever and cytopenia in addition to mucocutaneous, joint, ocular, and renal lesions. It is important to better characterize the clinical characteristics of SLE in patients with C1-INH-HAE, and to clarify the mechanisms of SLE in this population.
遗传性血管性水肿（HAE）是一种遗传性疾病，其特征为反复出现血管性水肿，无荨麻疹或瘙痒。最常见的HAE类型是由C1酯酶抑制剂（C1-INH-HAE）缺乏或功能障碍引起的。C1-INH-HAE与系统性红斑狼疮（SLE）之间的关联是已知的；然而，该人群潜在的病理生理学、病程和治疗方面的差异仍未完全了解。
一名31岁的日本女性，此前根据反复出现血管性水肿的发作、低C1抑制剂抗原水平和功能以及家族史被诊断为1型HAE，现出现新的主诉，包括面颊部皮疹、脱发以及手部和肘部关节痛。她后来出现发热、口腔溃疡、狼疮性视网膜病变、胸部局限性盘状皮疹和面颊部皮疹。检查发现抗核抗体阳性、白细胞减少、血小板减少、补体血症降低和肾炎。基于这些发现，根据2019年欧洲抗风湿病联盟/美国风湿病学会分类标准，她被诊断为SLE。HAE疾病活动与SLE出现的时间之间似乎没有相关性，因为HAE疾病活动一直稳定。该患者通过包括泼尼松龙、羟氯喹和他克莫司在内的免疫抑制治疗能够实现并维持缓解。
我们的患者除了有皮肤黏膜、关节、眼部和肾脏病变外，还出现了包括发热和血细胞减少在内的各种症状。更好地描述C1-INH-HAE患者中SLE的临床特征并阐明该人群中SLE的发病机制很重要。
