2022 年第 9 期 第 17 卷

原发性血小板增多症伴凝血因子Ⅻ缺乏症1例

A case report of essential thrombocytosis accompanied by coagulation factor Ⅻ deficiency

作者：葛琼1宋军2王麟辉2郭鹏翔2

英文作者：Ge Qiong1 Song Jun2 Wang Linhui2 Guo Pengxiang2

单位：1贵州医科大学临床医学院，贵阳550001；2贵州医科大学附属人民医院血液内科，贵阳550001

英文单位：1Clinical Medical College Guizhou Medical University Guiyang 550001 China; 2Department of Hematology Affiliated People′s Hospital of Guizhou Medical University Guiyang 550001 China

关键词：原发性血小板增多症；凝血因子Ⅻ缺乏症；出血；血栓形成

英文关键词：ssentialthrombocytosis;CoagulationfactorⅫdeficiency;Bleeding;Thrombogenesis

• 摘要：

• 1例男性患者以“血小板升高1年余，面色潮红5个月余”于贵州医科大学附属人民医院住院治疗，完善骨髓活检、免疫分型、基因二代测序等检查后，排除其他骨髓增殖性疾病，明确诊断为原发性血小板增多症（ET），并因入院期间发现凝血功能显著异常，进一步完善相关检查提示凝血因子Ⅻ（FⅫ）缺乏症。予羟基脲、干扰素降细胞，输注新鲜冰冻血浆改善凝血功能，阿司匹林抗凝等治疗病情好转后出院。少数ET可引起获得性凝血因子减少，但是合并FⅫ缺乏症较为罕见。对于同时存在ET和FⅫ缺乏症的患者，需警惕ET所引起的获得性FⅫ缺乏症，避免误诊和漏诊。

• A male patient with "thrombocytopenia for more than 1 year and flushing for more than 5 months" was admitted to Affiliated People′s Hospital of Guizhou Medical University. After exclusion of other myeloproliferative diseases through examinations of bone marrow biopsy, immunophenotyping and gene sequencing, the patient was diagnosed as essential thrombocytosis (ET). Significant abnormality of blood coagulation was found during admission, and further improvement of the relevant examination suggested coagulation factor (FⅫ) deficiency. The patient was treated with hydroxyurea and interferon to reduce cells, fresh frozen plasma infusion to improve blood coagulation, aspirin anticoagulation and so on, and discharged after better condition. ET can cause the decrease of acquired coagulation factors, but it is rare to be complicated with FⅫ deficiency. For the patients with both ET and FⅫ deficiency, we should pay attention to the secondary FⅫ deficiency caused by ET so as to avoid misdiagnosis and missed diagnosis.