Rathod Tushar N, Tayade M B, Shetty Shrimati D, Jadhav Pratap, Sathe Ashwin Hemant, Mohanty Shubhranshu S
Department of Orthopedics, Seth G. S. Medical College and KEM Hospital, 6th Floor, New Multi-Storeyed Building, Parel, Mumbai, 400012 India.
Department of General Surgery, Sir J.J. Group of Hospitals, Mumbai, India.
Indian J Orthop. 2020 Jul 2;54(Suppl 1):33-38. doi: 10.1007/s43465-020-00181-9. eCollection 2020 Sep.
Role of heritable blood clotting disorders, both thrombophilias and hypofibrinolysis in causing avascular necrosis (AVN) of femoral head have been studied in regions like Europe and U.S.A. This study was done to investigate the role of heritable thrombophilias in ethnic Indian population.
A case control study of 150 patients (100 cases and 50 age and sex matched controls) of Indian Ethnicity with clinico-radiographically documented idiopathic AVN of femoral head was done after ethics committee approval. DNA was extracted from the blood and PCR analysis was used to study heritable thrombophilic gene mutation (G1691A Factor V Leiden). Enzyme-linked immunosorbent assay (ELISA)-based assays, were utilized to measure antigen levels of protein C, antithrombin III levels and protein S.
Nine cases out of 100 showed deficiency of Protein C (9%) while no control showed deficiency of Protein C ( value: 0.028-significant, Odds ratio: 9.791) Ten cases showed deficiency of Protein S (10%) in study population as compared to one case (2%) in control population ( value: 0.038-significant, Odds ratio: 5.44). ATIII deficiency was more prevalent in control group i.e. 22% compared to 11% in study group. Factor V mutation was present in 3% cases as compared to one (2%) in control group. ( value is 0.393-not significant).
Difference in thrombophilic mutations in various populations indicates possible effect of ethnicity on genetic profile in the development of AVN. This risk stratification will enable in near future early diagnosis and possible role of antithrombotics in disease prevention.
在欧洲和美国等地区,已经对遗传性凝血障碍(包括易栓症和纤维蛋白溶解功能减退)在导致股骨头缺血性坏死(AVN)方面的作用进行了研究。本研究旨在调查遗传性易栓症在印度裔人群中的作用。
在伦理委员会批准后,对150名印度裔患者(100例病例和50例年龄及性别匹配的对照)进行了一项病例对照研究,这些患者经临床和放射学记录确诊为特发性股骨头缺血性坏死。从血液中提取DNA,并使用聚合酶链反应(PCR)分析来研究遗传性易栓症基因突变(G1691A因子V莱顿突变)。采用基于酶联免疫吸附测定(ELISA)的方法来测量蛋白C的抗原水平、抗凝血酶III水平和蛋白S。
100例病例中有9例显示蛋白C缺乏(9%),而对照组中无蛋白C缺乏情况(P值:0.028,具有统计学意义,优势比:9.791)。研究人群中有10例显示蛋白S缺乏(10%),而对照组中有1例(2%)显示蛋白S缺乏(P值:0.038,具有统计学意义,优势比:5.44)。抗凝血酶III缺乏在对照组中更为普遍,即22%,而研究组中为11%。3%的病例存在因子V突变,而对照组中有1例(2%)存在因子V突变(P值为0.393,无统计学意义)。
不同人群中易栓症突变的差异表明种族因素可能对缺血性坏死发生发展过程中的基因谱产生影响。这种风险分层将在不久的将来实现早期诊断,并可能使抗血栓药物在疾病预防中发挥作用。