Hemostatic markers and polymorphisms in three families with Legg-Calvé-Perthes disease

Abstract Legg-Calvé-Perthes Disease (LCPD) is a rare disease caused by avascular necrosis of the femoral head. Although its etiology is still not fully understood, evidence suggests heritable prothrombotic and inflammatory environmental factors may be implicated in its onset and progress. Our objective is to describe the genetic, biochemical markers, and environmental factors that may be associated with the etiology of LCPD. This study was conducted in three families and included seven related patients, with diagnosis of LCPD. We evaluated the following gene alterations: MTHFR, CBS, PT, FVL, FVIII, FIX, PAI-1, eNOS, IL-23R, and TNF-α, by real time PCR. Additionally, we assessed thrombophilia-associated biochemical markers. In addition, environmental factors were detected. Our results show different hemostatic alterations in every individual analyzed, presenting out-of-range values in one or more parameters. Concentrations in hemoglobin, fibrinogen, homocysteine, FVIII, and FIX activity percentage showed statistically significant differences when comparing with healthy controls. All patients present at least one mutated allele for the MTFHR (rs1801133) and IL-23R (rs1569922) polymorphisms, as well as isolated cases with other genetic variants. 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.