Perez T, Valentin J B, Saliba E, Gruel Y
Centre hospitalier régional universitaire, soins intensifs néonataux et pédiatriques, Hôpital d'Enfants de Clocheville, 49 boulevard Béranger, Tours, 37044, France.
Centre hospitalier régional universitaire, service d'hématologie-hémostase, Hôpital Trousseau, Avenue de la République, Tours, 37170, France.
Arch Pediatr. 2017 Sep;24(9S):9S28-9S34. doi: 10.1016/S0929-693X(17)30328-7.
All biological risk factors that have been previously identified to increase the risk of thrombosis in adults, have also been studied in neonates with arterial Ischemic Stroke (NAIS), but most studies were retrospective and included relatively low numbers of affected children. We therefore could not suggest recommendations with a strong level of evidence and only expert proposals potentially useful for clinical practice will be presented in this text. Despite these limitations, the extensive analysis of published data supported that factor V Leiden (FVL) and increased levels of Lp(a) could be significant risk factors for NAIS. Importantly, these 2 risk factors cannot be considered as having provoked NAIS, and moreover, they do not influence the prognosis and the immediate treatment. However, since the FVL may have an impact for the prescription of a thromboprophylaxis when the neonate will become adult, to look for its presence in affected patients may be justified. For clinical practice, the following propositions can be applied: 1. Routine testing for thrombophilia (AT, PC PS deficiency, FV Leiden or FII20210A) or for detecting other biological risk factors such as antiphospholipid antibodies, high FVIII, homocystein or Lp(a) levels, MTHFR thermolabile variant, should not be considered in neonates with NAIS. 2. Testing for FV Leiden can be performed in case of documented family history of venous thromboembolic disease. 3. Testing neonates for the presence of antiphospholipid antibodies (APA) is mandatory in case of clinical events suggesting antiphospholipid syndrome in the mother (vascular thrombosis, and/or pregnancy morbidity). 4. Routine testing for thrombophilia is not proposed in both parents in case of early death of the neonate, apart from APA in the mother.
所有先前已确定会增加成人血栓形成风险的生物学危险因素，也已在患有动脉缺血性卒中的新生儿（NAIS）中进行了研究，但大多数研究都是回顾性的，且纳入的患病儿童数量相对较少。因此，我们无法提出具有强有力证据水平的建议，本文仅会呈现可能对临床实践有用的专家提议。尽管存在这些局限性，但对已发表数据的广泛分析支持，因子V莱顿突变（FVL）和脂蛋白（a）[Lp（a）]水平升高可能是NAIS的重要危险因素。重要的是，不能认为这两个危险因素会引发NAIS，此外，它们也不影响预后和即时治疗。然而，由于FVL可能会对新生儿成年后预防性使用血栓药物的处方产生影响，因此在受影响的患者中寻找其存在可能是合理的。对于临床实践，可应用以下提议：1. 对于患有NAIS的新生儿，不应考虑进行常规的血栓形成倾向检测（抗凝血酶、蛋白C、蛋白S缺乏，FVL或凝血因子II 20210A）或检测其他生物学危险因素，如抗磷脂抗体、高凝血因子VIII、同型半胱氨酸或Lp（a）水平、亚甲基四氢叶酸还原酶（MTHFR）不耐热变异体。2. 如果有静脉血栓栓塞性疾病的家族病史记录，可进行FVL检测。3. 如果母亲出现提示抗磷脂综合征的临床事件（血管血栓形成和/或妊娠并发症），则必须检测新生儿是否存在抗磷脂抗体（APA）。4. 除母亲检测APA外，在新生儿早期死亡的情况下，不建议对其父母进行常规的血栓形成倾向检测。
