Girolami Antonio, Cosi Elisabetta, Santarossa Claudia, Ferrari Silvia, Girolami Bruno, Lombardi Anna Maria
Department of Medicine, University of Padua Medical School, Padua, Italy.
Division of Medicine, Padua City Hospital, Padua, Italy.
Eur J Haematol. 2016 Dec;97(6):547-553. doi: 10.1111/ejh.12767. Epub 2016 May 30.
The main objective of the study was to evaluate the incidence of bleeding manifestations in heterozygotes for FX deficiency vs. unaffected family members. Secondary objective was to compare the prevalence of arterial or venous diseases found in the two groups.
A total of 128 heterozygote patients for FX deficiency were investigated. A total of 102 patients had FX Friuli; 26 patients had other forms of FX deficiency. At time of diagnosis, each patient was paired with an unaffected family member, matched by gender and age (±5). Patients and their normal counterparts were checked every 1-2 yr for a mean period of 23.5 yr. The occurrence of bleeding manifestations was recorded and scored. The occurrence of arterial diseases and venous thrombosis was also recorded as a secondary finding.
A total of 38 heterozygote patients (29.7%) had one or more than one bleeding manifestation. The most frequent one was bleeding after tooth extraction or surgery. On the contrary, only three control subjects (2.3%) had documented hemorrhagic symptoms. There was a good correlation between bleeding and FX levels. Arterial disease (acute coronary syndromes, ischemic stroke, stable angina, peripheral arteries disease) was found in eight patients (6.3%) with FX deficiency and in seven unaffected subjects (5.5%). On the contrary, no venous thrombosis was seen in the affected group, whereas three cases (2.3%) of documented venous thrombosis were observed in the control group (two deep veins and one superficial vein).
Heterozygotes FX deficiency may be accompanied by a mild bleeding tendency. This has important implications to assure a safe FX level in case of surgery or invasive procedures. Furthermore, mild FX deficiency seems to have no protective effect on arterial disease but does seem to protect from venous thrombosis.
本研究的主要目的是评估FX缺乏杂合子与未受影响的家庭成员相比出血表现的发生率。次要目的是比较两组中发现的动脉或静脉疾病的患病率。
共调查了128例FX缺乏杂合子患者。其中102例患者患有弗留利FX；26例患者患有其他形式的FX缺乏。在诊断时，将每位患者与一名未受影响的家庭成员配对，按性别和年龄（±5岁）进行匹配。患者及其正常对照每1 - 2年检查一次，平均检查时间为23.5年。记录并评分出血表现的发生情况。动脉疾病和静脉血栓形成的发生情况也作为次要发现进行记录。
共有38例杂合子患者（29.7%）有一处或多处出血表现。最常见的是拔牙或手术后出血。相反，只有3名对照受试者（2.3%）有记录的出血症状。出血与FX水平之间存在良好的相关性。在8例（6.3%）FX缺乏患者和7名未受影响的受试者（5.5%）中发现了动脉疾病（急性冠状动脉综合征、缺血性中风、稳定型心绞痛、外周动脉疾病）。相反，在受影响组中未观察到静脉血栓形成，而在对照组中观察到3例（2.3%）记录的静脉血栓形成（2例深静脉和1例浅静脉）。
FX缺乏杂合子可能伴有轻度出血倾向。这对于在手术或侵入性操作时确保安全的FX水平具有重要意义。此外，轻度FX缺乏似乎对动脉疾病没有保护作用，但似乎对静脉血栓形成有保护作用。
