Does thrombophilia play an aetiological role in Legg-Calvé-Perthes disease?

Abstract

H eritable thrombophilic disorders have been proposed as one of the causes for Legg-Calvé-Perthes disease. A total of 62 patients diagnosed with this disease between 1988 and 1997 and 50 controls were screened for thrombophilia. The incidence and relationship of thrombophilia to the severity of the disease were evaluated.One patient and none of the controls had protein S deficiency. One of the control group and one of the patients had protein C deficiency with the latter child also having a combined deficiency with a mutant factor V gene.The number of children with a mutant factor V gene, protein C deficiency, who were homozygous for the C 677T polymorphism of methylenetetrahydrofolate reductase or were heterozygous for mutant G20210A prothrombin did not differ statistically in the study and the control groups. No patient had antithrombin deficiency or positive lupus anticoagulant.We found no correlation between thrombophilia and the extent of the disease. The most common risk factors for arteriovenous thromboembolism showed no statistical significance in our patients compared with the control group or with the general population. These data do not confirm an aetiological role for thrombophilia in Perthes' disease. J Bone Joint Surg [Br] 1999;81-B:686-90.

The role of coagulation abnormalities in the development of Perthes' disease

“…Our findings did not reveal significant factor deficiencies or levels of APC-R (5.8%) and are in keeping with more recent studies. 16,17 The only report which has commented previously on the APTT was that by Hayek et al, 16 who demonstrated no abnormalities. The APTT was part of the basic coagulation profile carried out in this study.…”

Increased coagulation factors V, VIII, IX, and homocysteine in Mexican patients with Legg-Calvé-Perthes disease

“…The proposed mechanism is that microthrombi would lodge in the vessels that nourish the femur, blocking the supply of blood, which would cause the characteristic necrosis of LCPD [15,16]. Results in multiple studies have supported this theory; however, the lack of reproducibility in these results has given rise to controversies as to whether hemostasis is involved in the development and suffering of LCPD (12,(17)(18)(19)(20).…”

Epidemiology, natural evolution, pathogenesis, clinical spectrum, and management of Legg–Calvé–Perthes

“…However, there are weak associations to a range of thrombophilic traits and LCPD, with findings that are far from being consistent. 48,49 So, studies of coagulopathy appear to exclude a major association. The etiological factor responsible for causation of LCPD, therefore, remains elusive.…”