Patterson Cynthia C, Ross Patrick, Pope-Harman Amy L, Knight Deborah A, Magro Cynthia M
College of Medicine and Public Health, The Ohio State University, OH, USA.
J Cutan Pathol. 2005 Apr;32(4):300-6. doi: 10.1111/j.0303-6987.2005.00304.x.
Alpha-1 anti-trypsin (A1AT) deficiency is an inherited enzyme deficiency that manifests with fatal lung and liver complications. In addition to pulmonary and hepatic involvement, the disease has also been linked to an increased incidence of vasculitic syndromes and autoimmune diseases, including Wegener's granulomatosis, microscopic polyarteritis nodosa and Henoch-Schonlein purpura (HSP). HSP, a systemic, small-vessel vasculitis syndrome, is characterized by a non-thrombocytopaenic purpuric rash, arthralgia, abdominal pain and nephritis. Both A1AT deficiency and HSP have been associated with anti-neutrophil cytoplasmic antibodies (ANCA) and anti-endothelial cell antibodies (AECA). We report a case of a 40-year-old man with severe A1AT deficiency, who developed HSP associated with AECA, ANCA and anti-phospholipid antibodies of the immunoglobulin-A isotype.
α1抗胰蛋白酶（A1AT）缺乏症是一种遗传性酶缺乏症，可表现为致命的肺部和肝脏并发症。除了累及肺和肝脏外，该疾病还与血管炎综合征和自身免疫性疾病的发病率增加有关，包括韦格纳肉芽肿、显微镜下结节性多动脉炎和过敏性紫癜（HSP）。HSP是一种全身性小血管炎综合征，其特征为非血小板减少性紫癜样皮疹、关节痛、腹痛和肾炎。A1AT缺乏症和HSP均与抗中性粒细胞胞浆抗体（ANCA）和抗内皮细胞抗体（AECA）有关。我们报告一例40岁严重A1AT缺乏症男性患者，其出现了与AECA、ANCA及免疫球蛋白A同种型抗磷脂抗体相关的HSP。
