Premium
Coexistence of acquired protein S and protein C deficiency and the Arg506Gln mutation in factor Va in a child with severe thromboembolic disease
Author(s) -
Shavit I,
Brenner B,
Lanir N,
Kassis I,
Lorber A,
Shehadeh N
Publication year - 1998
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1998.tb01452.x
Subject(s) - medicine , sepsis , protein c , thrombosis , deep vein , mutation , thromboembolic disease , cellulitis , factor v , pediatrics , immunology , gene , genetics , biology
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.