Popis: |
Background: Legg-Calvé-Perthes Disease (LCPD) is a condition caused by avascular necrosis of the femoral head. Although its etiology is still not fully understood, evidence suggests heritable thrombotic and inflammatory disorders and other factors may be implicated in its onset and progress. Our objective is to describe, in the three enrolled families, the genetic, biochemical, and environmental factors that may be associated with the etiology and development of LCPD. Methods: We evaluated the following gene alterations: MTHFR, CBS, PT, FVL, FVIII, FIX, PAI-1, eNOS, IL-23R, and TNF-α, and their relationship with LCPD. Additionally, we assessed thrombophilia-associated markers (FI, FII, FV, FVII, FVIII, FIX, FX, FXI, FXII, FvW, PC, PS, AT, and homocysteine) using coagulometry methods. Results: Seven patients with LCPD and 14 healthy volunteers were enrolled. Concentrations in hemoglobin (p ≤ 0.05), fibrinogen (p ≤ 0.05), homocysteine (p =Conclusions: Our results show environmental elements from every family and hemostatic and inflammatory disorders may be involved in suffering and developing LCPD. Also, heritable factors could contribute to the onset of the disease. Environmental, genetic, inflammatory, and prothrombotic factors are involved in this pathology. |