患有凝血因子 XIII Val34Leu 突变的患者出现反复自发性结膜下出血发作。
Recurrent episodes of spontaneous subconjunctival hemorrhage in patients with factor XIII Val34Leu mutation.
作者信息
Incorvaia Carlo, Costagliola Ciro, Parmeggiani Francesco, Gemmati Donato, Scapoli Gian Luigi, Sebastiani Adolfo
机构信息
Department of Ophthalmology, University of Ferrara, Ferrara, Italy.
出版信息
Am J Ophthalmol. 2002 Dec;134(6):927-9. doi: 10.1016/s0002-9394(02)01812-3.
PURPOSE
To report on the occurrence of frequent episodes of spontaneous subconjunctival hemorrhage (SCH) in patients with the Leu 34 allele of the coagulation factor XIII (FXIII), known to be associated with high hemorrhagic risk.
DESIGN
Observational case series.
METHODS
Five young adults who had suffered from recurrent idiopathic SCH not associated with any recognized ocular and systemic hemorrhagic risk factor were investigated. Accurate anamnestic, ophthalmologic, hematologic, and serologic examinations were performed, together with blood pressure measurements, electrocardiogram (ECG), and 24-hour Holter ECG recordings. FXIII Val34Leu polymorphism was studied by DNA chain polymerase reaction.
RESULTS
DNA analyses showed that the hemorrhagic mutated Leu34 allele was present in four of our selected patients: two mutated homozygotes (Leu/Leu) and two heterozygotes (Val/Leu). In the last subject this polymorphism was not detected. All the other clinical evaluations did not disclose any significant abnormality.
CONCLUSIONS
The FXIII Val34Leu mutation may be associated with an increased risk for spontaneous episodes of SCH.
目的
报告凝血因子 XIII（FXIII）Leu 34 等位基因患者中频繁发生自发性结膜下出血（SCH）的情况，已知该等位基因与高出血风险相关。
设计
观察性病例系列。
方法
对 5 名患有复发性特发性 SCH 且与任何公认的眼部和全身出血危险因素无关的年轻成年人进行了调查。进行了准确的病史、眼科、血液学和血清学检查，同时测量了血压、进行了心电图（ECG）和 24 小时动态心电图记录。通过 DNA 链聚合酶反应研究了 FXIII Val34Leu 多态性。
结果
DNA 分析显示，在我们选择的 4 名患者中存在出血性突变的 Leu34 等位基因：2 名突变纯合子（Leu/Leu）和 2 名杂合子（Val/Leu）。在最后一名受试者中未检测到这种多态性。所有其他临床评估均未发现任何明显异常。
结论
FXIII Val34Leu 突变可能与 SCH 自发发作风险增加有关。
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