Kalyani Hiren, Goyal Mayank, Banavathu Tejaswee, Pandey Swetal, Rath Prasan Deep
Department of Rheumatology, Max Super Speciality Hospital, New Delhi, India.
Lupus. 2024 Oct;33(12):1383-1388. doi: 10.1177/09612033241282058. Epub 2024 Sep 7.
Systemic Lupus Erythematosus (SLE) is often associated with antiphospholipid syndrome (APS), which manifests as recurrent thrombotic events or obstetric complications in presence of antiphospholipid antibodies. Hereby we present a case of a child who presented with low grade fever, superficial thrombophlebitis with mucosal bleeding and was diagnosed as Lupus Anticoagulant Hypoprothrombonemia Syndrome (LAHS).
A 7-year-old girl was hositalized with complaints of fever and spontaneous bleeding from gums and epistaxis. On examination, she had multiple small tender nodular lesions with greenish hue of overlying skin suggesting superficial thrombophlebitis and mild non-tender hepatosplenomegaly. Her coagulogram revealed normal platelet counts and deranged PT and APTT. ESR and CRP were raised. Serology for viral infections, blood and urine cultures were negative. Patient had persistent coagulopathy, mucosal bleeding and low-grade fever despite supportive treatment. She was tested for anti-nuclear antibodies (ANA) in view of suspicion of autoimmune process. ANA was positive in high titer with speckled pattern on indirect immunofluorescence. Mixing studies showed correction of PT and non-correction of APTT. PT based factors were normal except for prothrombin (FII) which was low and remained low despite dilution. APTT based factors (FVIII and FIX) were low but corrected on dilution. This was suggestive of prothrombin deficiency and a presence of a nonspecific inhibitor of APTT pathway (likely lupus anticoagulant). Presence of antiprothrombin antibodies established the diagnosis of LAHS. ENA profile was positive for SmD1, Ro60 and Ku. Complement levels were low. Direct Coomb's test was positive but there was no evidence of hemolysis. Lupus anticoagulant by DRVVT and anti-cardiolipin antibodies by ELISA were positive. Patient was diagnosed as Systemic Lupus Erythematosus with Lupus Anticoagulant Hypoprothrombinemia Syndrome. She was treated with IV methylprednisolone. Patient showed significant improvement in form of resolution of fever, mucosal bleeding, correction of deranged INR and reversal of hypocomplementemia. She was discharged on hydroxychloroquine, mycophenolate mofetil and tapering doses of prednisolone. On follow up, child was doing well and her prothrombin time and complement levels had normalized. Low dose aspirin was aspirin was added for thromboprophylaxis.
系统性红斑狼疮（SLE）常与抗磷脂综合征（APS）相关，APS在存在抗磷脂抗体时表现为复发性血栓形成事件或产科并发症。在此，我们报告一例患儿，其表现为低热、伴有黏膜出血的浅表性血栓性静脉炎，被诊断为狼疮抗凝物质低凝血酶原血症综合征（LAHS）。
一名7岁女孩因发热、牙龈自发性出血和鼻出血入院。检查发现，她有多个小的压痛性结节性病变，其上覆皮肤呈绿色，提示浅表性血栓性静脉炎，并有轻度无压痛的肝脾肿大。她的凝血检查显示血小板计数正常，凝血酶原时间（PT）和活化部分凝血活酶时间（APTT）异常。血沉（ESR）和C反应蛋白（CRP）升高。病毒感染血清学检查、血培养和尿培养均为阴性。尽管进行了支持治疗，患者仍持续存在凝血障碍、黏膜出血和低热。鉴于怀疑自身免疫过程，对患者进行了抗核抗体（ANA）检测。ANA高滴度阳性，间接免疫荧光显示斑点状模式。混合试验显示PT纠正，APTT未纠正。除凝血酶原（FII）低且稀释后仍低外，基于PT的因子正常。基于APTT的因子（FVIII和FIX）低，但稀释后纠正。这提示凝血酶原缺乏以及存在APTT途径的非特异性抑制剂（可能是狼疮抗凝物质）。抗凝血酶原抗体的存在确立了LAHS的诊断。可提取核抗原（ENA）谱显示SmD1、Ro60和Ku阳性。补体水平低。直接抗人球蛋白试验阳性，但无溶血证据。用稀释蝰蛇毒时间（DRVVT）检测狼疮抗凝物质，用酶联免疫吸附测定（ELISA）检测抗心磷脂抗体均为阳性。患者被诊断为系统性红斑狼疮伴狼疮抗凝物质低凝血酶原血症综合征。她接受了静脉注射甲泼尼龙治疗。患者在发热消退、黏膜出血、异常国际标准化比值（INR）纠正和低补体血症逆转方面有显著改善。她出院时服用羟氯喹、霉酚酸酯和逐渐减量的泼尼松龙。随访时，患儿情况良好，凝血酶原时间和补体水平已恢复正常。添加小剂量阿司匹林进行血栓预防。
