Factor VII Deficiency
“I missed school days as a child because of bleeds, and as an adult, I even had to leave a job because of my condition.”
A rare inherited coagulation disorder characterised by reduced or absent factor VII activity, leading to a variable bleeding tendency ranging from mild mucocutaneous bleeding to severe, life-threatening haemorrhage.
Epidemiology
Factor VII deficiency is the most common of the rare autosomal recessive coagulation factor deficiencies, with an estimated prevalence of approximately 1 per 300,000 to 500,000 individuals. Both sexes are equally affected. Higher prevalence is reported in populations with increased rates of consanguinity.
Clinical description
The clinical phenotype is highly variable and does not always correlate well with factor VII activity levels. Bleeding may begin in infancy or childhood, but can also present later in life.
Common bleeding manifestations include:
– Epistaxis
– Gingival bleeding
– Easy bruising
– Abnormal uterine bleeding
– Prolonged bleeding following trauma, dental procedures, or surgery
Severe bleeding manifestations, particularly in individuals with very low factor VII levels, may include:
– Gastrointestinal bleeding
– Intracranial haemorrhage (especially in neonates and young children)
– Haemarthroses and deep muscle bleeding (less common than in haemophilia but may occur)
Some individuals with markedly reduced factor VII activity may remain asymptomatic.
Etiology
Factor VII deficiency is caused by pathogenic variants in the F7 gene, which encodes coagulation factor VII. Factor VII plays a critical role in the initiation of the coagulation cascade through the tissue factor pathway.
Reduced or dysfunctional factor VII results in impaired thrombin generation and delayed clot formation, leading to a bleeding tendency of variable severity.
Diagnostic methods
Diagnosis is suggested by abnormal screening coagulation tests and confirmed by specific factor assays.
Key diagnostic findings include:
Prolonged prothrombin time (PT)
Normal activated partial thromboplastin time (aPTT)
Reduced factor VII activity on a specific assay
Factor VII molecular genetic testing may be used to further characterise the disorder, confirm the diagnosis, and support family studies.
Differential diagnosis
Differential diagnoses include:
Vitamin K deficiency
Liver disease
Warfarin or vitamin K antagonist exposure
Other rare coagulation factor deficiencies
Acquired factor VII deficiency
Clinical context and laboratory evaluation are essential to distinguish inherited factor VII deficiency from acquired causes.
Genetic counseling
Inheritance is autosomal recessive. Genetic counselling is recommended for affected individuals and their families. Carrier parents have a 25% risk of having an affected child with each pregnancy. Prenatal diagnosis may be considered in families with severe disease.
Congenital factor VII deficiency
Prevalence
1 / 300,000 – 500,000
Management and treatment
Management depends on bleeding severity and clinical phenotype.
Treatment options include:
Recombinant activated factor VII (rFVIIa) for treatment of bleeding episodes and perioperative management
Plasma-derived factor VII concentrates, where available
Fresh frozen plasma when specific concentrates are not accessible
Antifibrinolytic agents (e.g. tranexamic acid) for mucosal bleeding
Regular prophylaxis is not routinely required but may be considered in individuals with severe or recurrent bleeding, particularly in childhood.
Prognosis
Prognosis is generally good, especially in individuals with mild disease. With appropriate treatment and anticipatory care, most patients have a normal life expectancy. Severe deficiency carries a risk of serious bleeding, particularly intracranial haemorrhage in early life, underscoring the importance of early diagnosis and access to appropriate therapy.
Last update: August 2026
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