Mediwake Heshani, Robertson Jeremy, Beggs Joanne, Mason Jane
Department of Haematology, Pathology Queensland Central Laboratory, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.
School of Medicine, University of Queensland, St Lucia, Queensland, Australia.
TH Open. 2018 Jan 29;2(1):e25-e27. doi: 10.1055/s-0038-1624567. eCollection 2018 Jan.
A previously healthy 3-year-old girl presented with a short history of mucocutaneous bleeding and a spontaneous left knee hemarthrosis following a nonspecific viral gastroenteritis. Initial investigations for a bleeding disorder revealed a normal platelet count; however, coagulation studies revealed a prothrombin time (PT) of 25 seconds and an activated partial thromboplastin time (APTT) of 66 seconds (both prolonged). The APTT did not correct on mixing with normal plasma, and further testing confirmed the presence of a strong lupus anticoagulant (LA). One-stage assays of factor VIII, VII, and X were normal, but factor II was markedly reduced. Based on this distinct clinicopathological picture, a diagnosis of lupus anticoagulant hypoprothrombinemia syndrome (LAHS) was made. Due to the presence of a hemarthrosis, the patient was treated with clotting factor concentrate. Human prothrombin complex concentrate (PROTHROMBINEX-VF) was used as a source of factor II replacement; however, during the infusion the patient developed anaphylaxis necessitating resuscitation. The patient was observed without further factor replacement, and the bleeding symptoms resolved over several days. Within 3 weeks her PT and factor II had normalized but the APTT remained prolonged. After 6 months the coagulation profile had completely normalized and the LA was negative. It is unusual to require replacement of factor II in paediatric LAHS because bleeding is typically minor and self-limited. Anaphylaxis to clotting factor concentrates has not been previously reported in the context of LAHS, but is well described in patients with congenital factor IX deficiency (hemophilia B). Whilst the potential mechanism for anaphylaxis in our patient is unknown, it is recommended that human prothrombin complex concentrates should be used cautiously in paediatric LAHS.
一名此前健康的3岁女孩，在患非特异性病毒性肠胃炎后，出现了短期的皮肤黏膜出血，并自发性左膝关节积血。对出血性疾病的初步检查显示血小板计数正常；然而，凝血研究显示凝血酶原时间（PT）为25秒，活化部分凝血活酶时间（APTT）为66秒（均延长）。APTT与正常血浆混合后未得到纠正，进一步检测证实存在强狼疮抗凝物（LA）。凝血因子VIII、VII和X的一期检测结果正常，但凝血因子II显著降低。基于这一独特的临床病理表现，诊断为狼疮抗凝物低凝血酶原血症综合征（LAHS）。由于存在关节积血，患者接受了凝血因子浓缩物治疗。人凝血酶原复合物浓缩物（PROTHROMBINEX-VF）被用作凝血因子II替代物的来源；然而，在输注过程中患者发生过敏反应，需要进行复苏。未对患者进行进一步的因子替代治疗，出血症状在数天内得到缓解。3周内，她的PT和凝血因子II恢复正常，但APTT仍延长。6个月后，凝血指标已完全恢复正常，LA检测结果为阴性。在儿童LAHS中，通常不需要替代凝血因子II，因为出血一般较轻且具有自限性。此前在LAHS背景下尚未报道过对凝血因子浓缩物的过敏反应，但在先天性凝血因子IX缺乏症（血友病B）患者中已有详细描述。虽然我们患者发生过敏反应的潜在机制尚不清楚，但建议在儿童LAHS中谨慎使用人凝血酶原复合物浓缩物。
