Park Chang-Hun, Park Min-Seung, Lee Ki-O, Kim Sun-Hee, Park Young Shil, Kim Hee-Jin
Department of Laboratory Medicine and Genetics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon.
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine.
Medicine (Baltimore). 2020 Jan;99(5):e18947. doi: 10.1097/MD.0000000000018947.
Congenital factor V deficiency (FVD) is a rare bleeding disorder characterized by low or undetectable plasma factor V (FV) levels leading to mild to severe bleeding symptoms. Currently, more than 100 mutations have been reported in F5. We herein report a patient with FVD from mutations in the F5 gene.
A 52-year-old man with prolonged prothrombin time and activated partial thromboplastin time corrected by mixing test on preoperative screening. His past medical or family history was not remarkable.
Factor assays revealed a markedly reduced FV activity at 7%. Other factors were not decreased. DNA sequencing analysis to detect F5 gene mutations showed the patient was compound heterozygous for c.286G>C (p.Asp96His) and c.2426del (p.Pro809Hisfs2). Asp96His was previously described missense mutation and Pro809Hisfs2 was a novel deleterious mutation.
Fresh-frozen plasma was administered to supplement FV before surgery.
Subsequent factor assays revealed temporarily increased FV activity at 33%.
As was the case in our patient, genotype-phenotype correlations are poor in FVD, and molecular genetic test is necessary to confirm the diagnosis.
先天性因子V缺乏症（FVD）是一种罕见的出血性疾病，其特征是血浆因子V（FV）水平低或检测不到，导致轻度至重度出血症状。目前，F5基因已报告了100多种突变。我们在此报告一名因F5基因突变导致FVD的患者。
一名52岁男性，术前筛查时凝血酶原时间延长和活化部分凝血活酶时间通过混合试验校正。他既往的病史或家族史无明显异常。
因子检测显示FV活性显著降低至7%。其他因子未降低。检测F5基因突变的DNA测序分析显示，该患者为c.286G>C（p.Asp96His）和c.2426del（p.Pro809Hisfs2）的复合杂合子。Asp96His是先前描述的错义突变，Pro809Hisfs2是一种新的有害突变。
术前给予新鲜冰冻血浆补充FV。
随后的因子检测显示FV活性暂时升高至33%。
正如我们患者的情况一样，FVD的基因型与表型相关性较差，分子遗传学检测对于确诊是必要的。
