Background: Rare coagulation factor deficiencies in constitutional bleeding disorders are quantitative and/or qualitative abnormalities in one or more of these factors. Constitutional factor VII deficiency is a rare inherited disorder with autosomal recessive transmission and is associated with a variable hemorrhagic syndrome.

Aims: This is a study of an isolated deficiency of factor VII found in 13 cases.

Methods: Patients are of different age groups, presenting a hemorrhagic symptomatology with low PT. The diagnosis was guided by the first-line coagulation test: prothrombin time and activated partial thromboplastin time (APTT). Factor VII deficiencies are supplemented by the prothrombin complex assay to confirm the isolated trait. These tests are carried out by automated chronometric method, scrupulously respecting the pre-analytical phase, and the disturbance is confirmed on a second sample.

Results: During this study, 13 patients presented with factor VII deficiency, in whom an exploration of hemostasis was performed as part of a preoperative check-up, or following a haemorrhagic syndrome. The average age of our patients was 21 years. The problem sex ratio of male to female was 1.6, with a factor VII level of less than 40% in 06 patients and more than 40% in 07 patients.

Conclusions: Clinical expression is highly variable and the severity of hemorrhagic syndrome is not correlated with residual FVII activity levels. Finally, there are many subjects who are totally asymptomatic despite a very low FVII rate.

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/isolated-factor-vii-deficiency/