Coexistence of acquired protein S and protein C deficiency and the Arg506Gln mutation in factor Va in a child with severe thromboembolic disease.
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.
Shavit
I
I
Department of Paediatrics A, Rambam Medical Centre and Bruce Rappaport Faculty of Medicine, Haifa, Israel.
Brenner
B
B
Lanir
N
N
Kassis
I
I
Lorber
A
A
Shehadeh
N
N
D000483:Alleles; D000925:Anticoagulants / Q000627:therapeutic use; D002648:Child; D003937:Diagnosis, Differential; D018572:Disease-Free Survival; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D017354:Point Mutation; D020151:Protein C Deficiency; D018455:Protein S Deficiency / Q000150:complications* / Q000175:diagnosis; D013923:Thromboembolism / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D019851:Thrombophilia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*
D000925:Anticoagulants; D005165:Factor V