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一名成年患者的遗传性凝血因子Ⅻ缺乏症:病例报告。

Hereditary factor XII deficiency in an adult patient: A case report.

作者信息

Al-Ansari Rehab Y, Al-Yami Fatimah, Almulhim Ghayah, Woodman Alexander

机构信息

Adult Hematology Unit, Internal Medicine Department, KFMMC, Dhahran, Kingdom of Saudi Arabia.

Hematology Section, Laboratory Department, KFMMC, Dhahran, Kingdom of Saudi Arabia.

出版信息

SAGE Open Med Case Rep. 2022 Aug 17;10:2050313X221118728. doi: 10.1177/2050313X221118728. eCollection 2022.

Abstract

Factor XII deficiency is a rare autosomal recessive health condition usually discovered incidentally during routine coagulation screening before surgery after investigating a prolongation of the activated partial thromboplastin time. This is a case of a 29-year-old man from Saudi Arabia who was selectively admitted to the surgical department to treat a perianal fistula and found incidentally prolonged activated partial thromboplastin time and factor XII deficiency. Examination of the skin revealed no bruising, petechiae, or ecchymosis. Systemic examination was normal. Laboratory examination showed an activated partial thromboplastin time > 160 s (normal between 27 and 38), which was repeated twice with low factor XII < 5.7% (73-121). Other factors and the work of hemostasis were within the normal range. Surgery was delayed at the request of the patient. One year later, the patient was admitted to the clinic after surgery without bleeding and did not require factor correction before or after surgery. However, treating factor XII-deficient patients specifically for preoperative preparation is challenging. Therefore, this rare case should be recorded and reported the same way as a number of previously rarely reported cases.

摘要

因子 XII 缺乏症是一种罕见的常染色体隐性健康状况,通常在术前常规凝血筛查时偶然发现,此前已对活化部分凝血活酶时间延长进行了调查。这是一名来自沙特阿拉伯的 29 岁男性患者,因选择性收治于外科治疗肛周瘘管,偶然发现活化部分凝血活酶时间延长及因子 XII 缺乏。皮肤检查未发现瘀伤、瘀点或瘀斑。全身检查正常。实验室检查显示活化部分凝血活酶时间>160 秒(正常范围为 27 至 38 秒),重复两次,因子 XII 水平低<5.7%(73 - 121)。其他因子及止血功能均在正常范围内。应患者要求,手术推迟。一年后,患者术后入住诊所,未出现出血情况,术前及术后均无需因子纠正。然而,针对因子 XII 缺乏症患者进行专门的术前准备具有挑战性。因此,这一罕见病例应像此前一些罕见报道病例一样进行记录和报告。

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引用本文的文献

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"Familial Multiple Coagulation Factor Deficiencies of FXI and FXII in an Asymptomatic Saudi Woman".
J Investig Med High Impact Case Rep. 2023 Jan-Dec;11:23247096231199413. doi: 10.1177/23247096231199413.

本文引用的文献

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