Incidence of thrombophilia in patients with Gaucher disease

An inherited risk for thrombosis, including mutant thermolabile variant of methylenetetrahydrofolate reductase (MTHFR), factor V Leiden, or prothrombi n may be the cofactor(s) for avascular necrosis (AVN) in patients with sick le cell disease. Similarly, heterozygosity for factor V Leiden is sufficien t to explain the increased blood viscosity observed in children with Legg-C alve-Perthes disease who develop AVN, Because there are no laboratory tests or clinical markers that are helpful in predicting which patients with Gau cher disease may develop AVN, the current study was undertaken to ascertain if there exists an inherited predilection to hypercoagulability in patient s with Gaucher disease and AVN, Analysis was performed on genomic DNA extra cted from 56 adult patients with type I Gaucher disease. In this cohort of Ashkenazi Jewish patients, the frequency of mutations in the MTHFR, prothro mbin, and factor V Leiden genes was found to be low, as was the presence of anticardiolipin antibodies; and none was correlated with increased inciden ce of AVN, Splenectomy, that may be a predisposing factor to AVN in patient s with Gaucher disease, was factored out. Hence the presence of any of the above thrombophilic factors, and which by extension may be risk factors for AVN in other diseases, are not more common in patients with Gaucher diseas e who develop AVN, Studies in larger cohorts and possibly inclusion of addi tional factors may be needed to ascertain whether a correlation exists. (C) 2000 Wiley-Liss, Inc.