狼疮抗凝物-低凝血酶原血症综合征伴凝血因子抑制剂假阳性检测

[Lupus anticoagulant-hypoprothrombinemia syndrome with a false-positive test for coagulation factor inhibitors].

作者信息

Morinaga Shingo, Ide Yoko, Kusumoto Masaru, Ogata Mika, Takaki Kazutaka, Matsumoto Emiko

机构信息

Department of Pediatrics, National Hospital Organization Kumamoto Medical Center.

出版信息

Rinsho Ketsueki. 2012 Jul;53(7):716-20.

PMID:22975775

Abstract

We report a case of a 1-year-old boy diagnosed with lupus anticoagulant-hypoprothrombinemia syndrome (LA-HPS), which is a rare disorder. His initial presentation of sinusitis was accompanied by hemorrhagic episodes including ecchymoses and epistaxis 6 months after antibiotic therapy. Laboratory results revealed prolonged prothrombin time (PT) and activated partial thromboplastin time (APTT) that did not correct with mixing studies. Factors II, VIII, IX, X, XI, and XII activities were 20%, 44%, 42.5%, 59%, 4%, and 10%, respectively. The Bethesda inhibitor assay showed inhibitors against multiple coagulation factor. APTT, mixing studies, diluted Russell's viper venom time, and the Bethesda inhibitor assay detected LA. LA-HPS with a suspected false-positive test for coagulation factor inhibitors was diagnosed. Bleeding stopped and results of coagulation studies returned to normal without therapy 2 months after onset of the disease.

摘要

我们报告了一例1岁男孩被诊断为狼疮抗凝物-低凝血酶原血症综合征（LA-HPS），这是一种罕见的疾病。他最初表现为鼻窦炎，在抗生素治疗6个月后出现包括瘀斑和鼻出血在内的出血发作。实验室结果显示凝血酶原时间（PT）和活化部分凝血活酶时间（APTT）延长，且在混合试验中未得到纠正。凝血因子II、VIII、IX、X、XI和XII的活性分别为20%、44%、42.5%、59%、4%和10%。贝塞斯达抑制剂试验显示存在针对多种凝血因子的抑制剂。APTT、混合试验、稀释蝰蛇毒时间和贝塞斯达抑制剂试验检测到狼疮抗凝物。诊断为疑似凝血因子抑制剂假阳性检测的LA-HPS。疾病发作2个月后，未经治疗出血停止，凝血研究结果恢复正常。