Biernacka-Zielinska Malgorzata, Lipinska Joanna, Szymanska-Kaluza Joanna, Stanczyk Jerzy, Smolewska Elzbieta
Department of Pediatric Cardiology and Rheumatology, Medical University of Lodz, 36/50 Sporna St,, 91-738, Lodz, Poland.
J Med Case Rep. 2013 Aug 23;7:221. doi: 10.1186/1752-1947-7-221.
Antiphospholipid syndrome is a multisystem autoimmune disease characterized by arterial and/or venous thrombosis and persistent presence of antiphospholipid antibodies. It can be a primary disease or secondary when associated with other autoimmune diseases.
We present a case of a 16-year-old Caucasian boy with a massive arterial and venous thrombosis in his lower limbs as well as in his central nervous system with clinical symptoms such as headaches and chorea. He did not present any clinical or laboratory signs of a systemic inflammatory connective tissue disease, including systemic lupus erythematosus. Based on the clinical picture and results of the diagnostic tests (positive antibodies against β2-glycoprotein and a high titre of anticardiolipin antibodies) we finally diagnosed primary antiphospholipid syndrome. During a 9-month follow up after the acute phase of the disease, he was treated with low-molecular-weight heparin. Neurological symptoms were relieved. Features of recanalization in the vessels of his lower limbs were observed. After a subsequent 6 months, because of the failure of preventive treatment - an incident of thrombosis of the vessels of his testis - treatment was modified and heparin was replaced with warfarin.
Although the preventive treatment with warfarin in our patient has continued for 1 year of follow up without new symptoms, further observation is needed.
抗磷脂综合征是一种多系统自身免疫性疾病,其特征为动脉和/或静脉血栓形成以及抗磷脂抗体持续存在。它可以是原发性疾病,也可在与其他自身免疫性疾病相关时为继发性疾病。
我们报告一例16岁白种男孩,其下肢以及中枢神经系统出现大量动静脉血栓形成,并伴有头痛和舞蹈症等临床症状。他未表现出任何系统性炎症性结缔组织病的临床或实验室迹象,包括系统性红斑狼疮。根据临床表现和诊断测试结果(抗β2糖蛋白抗体阳性及高滴度抗心磷脂抗体),我们最终诊断为原发性抗磷脂综合征。在疾病急性期后的9个月随访期间,他接受了低分子量肝素治疗。神经症状得到缓解。观察到其下肢血管再通的特征。随后6个月后,由于预防性治疗失败——出现睾丸血管血栓形成事件——治疗方案进行了调整,肝素被华法林替代。
尽管我们的患者使用华法林进行预防性治疗在1年随访期间未出现新症状,但仍需进一步观察。