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FVII Deficiency

Heritable FVII deficiency is a rare bleeding disorder resulting from low functional levels of coagulation factor VII. It is characterised by autosomal recessive inheritance, and has a prevalence of about 1:500,000.

FVII deficiency is clinically a very heterogeneous disorder. Bleeding symptoms range in severity from asymptomatic, to mild (most cases), to lethal. A complete lack of FVII is considered to be incompatible with life.

F7 gene mutation(s) can be found in most cases of heritable FVII deficiency, however genotype does not correlate well with FVII level or with bleeding risk. Genetic diagnosis has limited utility in the clinical management of FVII deficiency, although it can have a role in PND in families (frequently consanguineous) with severe FVII deficiency.


(Last reviewed 12th February 2018)