Hyper-acute Stroke Unit, University College London Hospitals NHS Foundation Trust, London, UK.
Department of Haematology, University College London Hospitals NHS Foundation Trust, London, UK.
Stroke Vasc Neurol. 2018 Sep 12;3(4):231-236. doi: 10.1136/svn-2018-000169. eCollection 2018 Dec.
Approximately 40% of strokes in young adults are cryptogenic. The diagnostic yield of thrombophilia screening remains controversial. We aimed to determine utility of current thrombophilia testing for young patients with stroke and transient ischaemic attack (TIA).
We present a retrospective review of all patients with stroke and TIA ≤60 years presenting to University College London Hospital stroke unit and daily TIA clinic from 1 January 2015 to 1 August 2016. Consecutive clinical records and thrombophilia tests, including factor V Leiden (FVL), prothrombin G20210A mutation (PGM), antiphospholipid antibody (APA), and protein S, C and antithrombin (AT) levels, were reviewed.
The mean age of 628 patients with stroke and TIA was 49.1 years (SD 9.2). Thrombophilia testing was performed in 360 (57%) patients, including 171 with stroke and 189 with TIA. Positive tests were found in 50 (14%) patients, of whom 24 patients were <50 years. Positive results were found in 36 (10%) with acute ischaemic stroke, 4 (1%) with haemorrhagic stroke and 10 (3%) with TIA. Thirteen patients (4%) had homozygous/heterozygous FVL or PGM, and 27 (7.5%) had positive APA (anticardiolipin antibody, anti-β2 glycoprotein antibody or lupus anticoagulant). Of 27 (7.5%) patients with protein C, S or AT deficiency, 10 (2.8%) had primary deficiency, presumed hereditary with other secondary causes excluded. 9% of patients with protein C, S or AT and 27% with APA were followed by confirmatory testing.
Thrombophilia testing was positive in only 14% of cases overall. Thrombophilia mutations and protein C, S or AT abnormalities were found rarely and were very uncommon in patients with TIA. Follow-up of abnormal results was generally poor for all groups, which further limited the impact of the thrombophilia testing policy.
约 40%的年轻人中风为隐源性。血栓形成倾向筛查的诊断效果仍存在争议。我们旨在确定当前血栓形成倾向检测在年轻中风和短暂性脑缺血发作（TIA）患者中的应用价值。
我们回顾性分析了 2015 年 1 月 1 日至 2016 年 8 月 1 日期间在伦敦大学学院医院中风病房和每日 TIA 诊所就诊的所有≤60 岁中风和 TIA 患者的连续临床记录和血栓形成倾向检测，包括因子 V Leiden（FVL）、凝血酶原 G20210A 突变（PGM）、抗磷脂抗体（APA）以及蛋白 S、C 和抗凝血酶（AT）水平。
628 例中风和 TIA 患者的平均年龄为 49.1±9.2 岁。对 360 例（57%）患者进行了血栓形成倾向检测，其中 171 例为中风患者，189 例为 TIA 患者。50 例（14%）患者的检测结果为阳性，其中 24 例患者年龄<50 岁。36 例（10%）急性缺血性中风患者、4 例（1%）出血性中风患者和 10 例（3%）TIA 患者的检测结果为阳性。13 例（4%）患者为 FVL 或 PGM 纯合子/杂合子突变，27 例（7.5%）患者 APA 阳性（抗心磷脂抗体、抗β2 糖蛋白抗体或狼疮抗凝剂）。27 例（7.5%）蛋白 C、S 或 AT 缺乏的患者中，10 例（2.8%）为原发性缺乏，排除了其他继发性原因，推测为遗传性。蛋白 C、S 或 AT 缺乏的患者中 9%和 APA 阳性的患者中 27%进行了确证性检测。
总体而言，血栓形成倾向检测结果阳性率仅为 14%。血栓形成突变和蛋白 C、S 或 AT 异常罕见，在 TIA 患者中非常少见。所有组的异常结果随访情况均普遍较差，这进一步限制了血栓形成倾向检测策略的影响。
