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Thrombosis in inherited factor VII deficiency
G Mariani1, F H Herrmann, S Schulman
1Cattedra e Divisione di Ematologia, Università di Palermo, Palermo University Hospital, Via del Vespro 127, 90127 Palermo, Italy. guglielmo.mariani@tin.it
Journal of Thrombosis and Haemostasis : JTH
|October 3, 2003
Summary
Congenital factor VII deficiency does not prevent thrombosis, even with severe deficiency. Thrombotic events occurred spontaneously or were linked to surgery and replacement therapies in patients with factor VII deficiency.
Area of Science:
- Hematology
- Genetics
Background:
- Congenital factor VII (FVII) deficiency is a rare bleeding disorder.
- The relationship between FVII deficiency and thrombosis is not well understood.
Purpose of the Study:
- To investigate the occurrence and characteristics of thrombosis in patients with congenital FVII deficiency.
Main Methods:
- Evaluation of thrombotic events in 514 patients from the FVII Deficiency Study Group database.
- Molecular-genetic characterization of gene mutations in affected patients.
- Assessment of coagulation factor generation assays (FXa and IIa).
Main Results:
- Nine thrombotic events were identified: one arterial, one disseminated intravascular coagulation, and seven venous.
- Gene mutations were characterized in eight patients, with varying zygosity.
- Thrombosis was linked to surgery or replacement therapy in seven patients; others occurred spontaneously.
- No specific age, phenotype, zygosity, or thrombophilic abnormality was associated with thrombosis.
- Severe FVII deficiency did not protect against thrombosis risk factors like surgery.
Conclusions:
- Congenital FVII deficiency does not confer protection against thrombosis.
- Thrombosis in FVII deficiency can be associated with strong risk factors such as surgery and replacement therapy.