Hemostatic Markers and Polymorphisms in Three Mexican Families with Legg-Calvé-Perthes Disease.

Abstract 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 =<0.05), FVIII (p≤0.05), and factor IX activity percentage (p ≤ 0.05) showed statistically significant differences. Our results show that all participants of this study present at least one mutated allele for the MTFHR (rs1801133) and IL-23R (rs1569922) polymorphisms, as well as isolated cases with other genetic variants.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.