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韩国因因子V莱顿突变导致的急性肺血栓栓塞症:一例报告

Acute pulmonary thromboembolism caused by factor V Leiden mutation in South Korea: A case report.

作者信息

Choe Hun Jee, Suh Koung Jin, Lee Ji Yun, Kim Minyoung, Kim Man Jin, Park Sung Sup, Kim Ji-Won, Kim Se Hyun, Kim Jin Won, Lee Jeong-Ok, Kim Yu Jung, Lee Keun-Wook, Kim Jee Hyun, Bang Soo-Mee, Lee Jong Seok

机构信息

Department of Internal Medicine, Seoul National University, Seoul National University Bundang Hospital, Seongnam.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.

出版信息

Medicine (Baltimore). 2019 Jul;98(28):e16318. doi: 10.1097/MD.0000000000016318.

Abstract

RATIONALE

Although Factor V Leiden (FVL) mutation is a major cause of inherited thrombophilia in Western populations; the mutation is extremely rare in Asia.

PATIENT CONCERNS

Here we report a case of a 28-year old Korean woman admitted to our hospital with extensive pulmonary embolism.

DIAGNOSIS

She was heterozygous for FVL mutation up on evaluation, and screening for asymptomatic family members also revealed heterozygous FVL mutation for her mother.

INTERVENTIONS

Enoxaparin 1 mg/kg was initiated, followed by rivaroxaban 15 mg every 12 hours.

OUTCOMES

The patient showed improvement in both subjective dyspnea and right ventricular dysfunction and was successfully discharged after five hospital days.

LESSONS

FVL mutation screening may be considered in Asian patients with thrombophilia of uncertain etiology in the future.

摘要

理论依据

尽管因子V莱顿(FVL)突变是西方人群遗传性易栓症的主要原因,但该突变在亚洲极为罕见。

患者情况

我们在此报告一例28岁韩国女性因广泛肺栓塞入住我院的病例。

诊断

评估发现她为FVL突变杂合子,对无症状家庭成员的筛查也显示其母亲为FVL突变杂合子。

干预措施

开始使用依诺肝素1mg/kg,随后每12小时服用利伐沙班15mg。

结果

患者主观呼吸困难和右心室功能障碍均有改善,住院五天后成功出院。

经验教训

未来对于病因不明的亚洲易栓症患者,可考虑进行FVL突变筛查。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6bd4/6641677/63a1adf9239e/medi-98-e16318-g001.jpg

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