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Coexistence of acquired protein S and protein C deficiency and the Arg506Gln mutation in factor Va in a child with severe thromboembolic disease |
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| Authors: | I Shavit B Brenner N Lanir I Kassis A Lorber N Shehadeh |
| Affiliation: | Department of Paediatrics'A', Rambam Medical Centre and Bruce Rappaport Faculty of Medicine, Haifa, Israel;Thrombosis and Haemostasis Unit, Rambam Medical Centre and Bruce Rappaport Faculty of Medicine, Haifa, Israel;Infectious Diseases Unit, Rambam Medical Centre and Bruce Rappaport Faculty of Medicine, Haifa, Israel;and Paediatric Cardiology Unit, Rambam Medical Centre and Bruce Rappaport Faculty of Medicine, Haifa, Israel |
| Abstract: | An 11-y-old girl who presented with cellulitis and clinical signs of deep vein thrombosis (DVT) is reported here. She developed staphylococcal sepsis, recurrent septic emboli and a large vegetation on the tricuspid valve. The patient was found to be heterozygous for the Arg506Gln mutation in factor Va and had low levels of protein C and protein S during the sepsis. The coexistence of the two thrombophilic states may explain the severe thromboembolic manifestations. |
| Keywords: | Arg506Gln mutation deep vein thrombosis embolism factor Va protein C protein S |