The most severe forms of Perthes’ disease associated with the homozygous Factor V Leiden mutation

Abstract

It has recently been postulated that thrombophilia may have a role in the aetiology of Perthes' disease. The published reports, however, remain conflicting. In this study a retrospective analysis of the coagulation parameters was made in 47 patients with Perthes' disease and the results compared with the clinical data. Five patients with Factor V Leiden mutation were found (10.6%) and surprisingly four of them had a homozygous pattern. These four patients showed the most severe form of the disease, Catterall group IV, with flattening of the entire epiphysis, involvement of the metaphysis, shortening and broadening of the femoral neck, trochanteric overgrowth and developed mushroom-shaped aspherical laterally displaced femoral heads in dysplastic acetabula. We would like to suggest that the homozygous form of Factor V Leiden mutation has some role in the clinical course of Perthes' disease and particularly its most severe form.

Impaired dexamethasone-related increase of anticoagulants is associated with the development of osteonecrosis in childhood acute lymphoblastic leukemia

“…Micro-thrombi resulting from an imbalance between procoagulant and anticoagulant processes in patients with Legg-Calvé-Perthes disease have been shown to play an important etiological role in the development of ON. [11][12][13] Little information is available on the role of coagulation dysregulation in the pathogenesis of ON in childhood ALL. 3,4,14 Therefore, the main objective of this study is to investigate whether induction-therapy-related alterations in coagulation are associated with the development of symptomatic ON during childhood ALL.…”

“…It has been suggested that a deviation of the coagulation system is one of the predisposing factors, but until now only a few studies have been performed on coagulation dysregulation in the pathogenesis of ON in childhood. [11][12][13] In 1989, Hanada et al suggested that L-asparaginase induced coagulopathy in a child with ALL related osteonecrosis. 5 A study investigating the prevalence of hereditary prothrombotic risk factors such as factor V Leiden, the prothrombin 20210G>A polymorphism and the methylene tetrahydrofolate reductase 677C>T variant in a group of 24 children who developed ON during treatment for various types of cancer, including 16 cases of ALL, did not identify an increased prevalence of these hypercoagulable state mutations.…”

Fator V de Leiden na doença de Legg-Calvé-Perthes

“…Once the prevalence of inherited thrombophilia such as Leiden's V factor does not change with time, we could estimate the odds ratio considering as a control group 214 healthy adult individuals with no previous history of thrombotic events, representing local population. Finally, a study by Szepesi et al 14 suggests that the V factor mutation negatively influences the course of the disease, especially in homozygous individuals. Of 47 patients diagnosed with LeggCalvé-Perthes disease, four were homozygous and showed a more severe form of LCP.…”

“…The correlation between thrombophilia and Legg-Calvé-Perthes disease has been shown by several studies 1,2,[11][12][13][14] , with some controversies. [15][16][17][18][19][20][21] This study was aimed to examine the association between Leiden's V factor as an inherited risk factor to hypercoagulability and the development of Legg-Calvé-Perthes disease.…”

Legg–Calve–Perthes Disease

“…K. Szepesi из Дебреценского уни-верситета (Венгрия) проводил изучение тромбофилии как причины болезни Пертеса, изучая коагуляционные параметры у 47 пациентов. Он установил, что наиболее тяжелые формы болезни регистрируются при гомозигот-ности по фактору V [6].…”