Protein C, protein S, antithrombin lll and factor V leiden [Q506] mutation in veno-occlusive disease in Egyptian children

ABSTRACT

Thickening of the subintimai zone of the central vein and sublobular venules leads to decreased venous outflow, increased resistance and severe hemodynamic changes characteristic of veno-occlusive disease [VOD]. The role of the coagulation pathways in the pathophysiology of VOD is an area of controversy. This work aimed at evaluation of the presence of protein C, protein S, antithrombin III deficiency and the presence of factor V Leiden in children having VOD. This cross-sectional study included 20 children suffering from veno-occlusive disease and 20 age and sex matched clinically free infants as a control group. They underwent protein C, protein S, antithrombin III assays. Molecular study of factor V mutation [mutation Q506] detection was carried out. The results proved that protein C deficiency was present in 14 children [70%], and antithrombin III in 2 children [10%]. Protein 8 deficiency was not encountered in our studied group. Two children were heterozygous for the mutation Q506. The 2 children with heterozygous factor V Leiden mutation had protein C deficiency. The percutaneous liver biopsies revealed central vein obstruction in 11 children [55%], extensive fibrosis in one and cirrhosis in one. The biopsy findings did not correlate with the clinical stage [P=0.47] or duration of disease [P=0.49]. None of these changes was encountered in the control group