coagulation factor VII deficiency

Epidemiology

• very rare

Genetics

• autosomal recessive
• associated with efects in coagulation factor VII

Clinical manifestations

• hemorrhagic disease
  • can occur early & be very severe
    • intracerebral hemorrhages
    • hemarthroses
  • milder forms may present with
    • cutaneous-mucosal hemorrhages (epistaxis, menorrhagia)
    • hemorrhages provoked by a surgical intervention
• some individuals are completely asymptomatic despite a very low F7 level

More general terms

• hemophilia

Database

• OMIM: https://mirror.omim.org/entry/227500