Factor V Leiden and the prothrombin 20210A gene mutation and osteonecrosis of the knee

Abstract

Introduction: The pathogenesis behind osteonecrosis of the knee is still unknown. Circulatory impairment of the bone secondary to thrombosis in the microcirculation has been suggested as a mechanism. The purpose of this study was to examine the association between osteonecrosis of the knee and abnormalities in the thrombotic pathway in the form of factor V Leiden and the prothrombin 20210A gene mutation.

Materials and methods: Thirty-eight consecutive patients (13 men and 25 women) with osteonecrosis of the knee without a history of knee trauma or surgery to the knee were enrolled in this study. Assays for the detection of factor V Leiden and the prothrombin 20210A gene mutation were performed, and the results were compared with those from 282 healthy volunteers.

Results: Six patients were diagnosed with secondary osteonecrosis, four corticosteroid-induced and two alcohol-induced. In 32 patients, no aetiological factor was found, and these patients were diagnosed with primary osteonecrosis of the knee. Twelve patients had 14 gene mutations, 11 factor V Leiden and 3 prothrombin 20210A gene mutations. Factor V Leiden and the prothrombin 20210A gene mutation occurred significantly (p=0.006) more frequently in patients with osteonecrosis than in a population of 282 healthy volunteers (odds ratio 3.1, 95%CI 1.4-6.6).

Conclusion: The results of this study suggest that coagulation abnormalities in the form of factor V Leiden and the prothrombin 20210A gene mutation might play a role in osteonecrosis of the knee.