Inheritance of Factor VII ve Protein S Deficiency together with Factor V Leiden Mutation

Homozygous or heterozygous mutation of Factor V Leiden (FV Leiden) mutation and the thrombophylic factors like protein S deficiency are associated with venous or arterial thrombosis. In these patients, thrombosis may be seen even in the presence of coexistent congenital disorders of bleeding. Factor VII (F VII) deficiency is a rare autosomal recessive disorder of blood coagulation. When F VII deficiency is in combination with thrombophylic mutations, the symptoms of hemorrhagic diathesis alleviate, like in other inherited hemorhagic disorders. Herein, five and seven-year-old, asymptomatic sister and brother who had two (FV Leiden mutation and protein S deficiency) and one (F V Leiden mutation) thrombophylic factors coexistent with FVII deficiency are presented. The levels of FVII were %36 (N: 55-116) and % 38 (N: 52-120) and FV Leiden was homozygous and heterozygous in the sister and the brother respectively. The levels of FVII were 36% (N: 55-116) in the sister and 38% (N: 52-120) in the brother. FV Leiden mutation was homozygous and heterozygous in the sister and the brother respectively. The protein S activity was 47% (N: 54-118) in the sister and normal in the brother. The familial work-up revealed FV Leiden mutation (heterozygous) in both parents and protein S deficiency in the mother [% 51 (N: 55-160)]. The paternal grandmother who died due to myocardial infarction was learned to have had FVII deficiency. Neither of the siblings nor the grandmother had hemorrhagic diathesis. Even children with moderately decreased FVII levels may present with bleeding symptoms. Therefore, we think that absence of hemorrhagic diathesis in our patients can be attributed to coinheritance of thrombophylic factors (protein S deficiency and/or FV Leiden mutation).