A 5-year-old Chinese boy with mild symptoms despite severe congenital factor VII deficiency: A case report

Congenital factor VII deficiency is a rare autosomal recessive bleeding disorder characterized by markedly heterogeneous clinical phenotypes and reduced plasma factor VII activity. We present the 5-year-old Chinese boy who exhibited only mild intermittent epistaxis despite a factor VII:C level of 1.5% and compound heterozygous missense mutations in the F7 gene, c.722C>A (p.T241N) and c.1165T>G (p.C389G). Notably, no gastrointestinal, intracranial, or joint hemorrhages occurred. Bleeding symptoms were effectively controlled using fresh frozen plasma followed by recombinant activated factor VII. This case highlights the discordance between biochemical severity and clinical phenotype in factor VII deficiency and underscores the importance of early coagulation testing and molecular diagnosis in pediatric patients with unexplained mucosal bleeding.