Factor VII deficiency in China: Phenotype, genotype and current status of management

Congenital factor VII (FVII) deficiency is a rare bleeding disorder characterised by a wide molecular and clinical heterogeneity. We investigated the clinical phenotype of 193 patients and F7 genotype of 55/193 patients with FVII deficiency throughout China and showed their current status of management. The most frequent bleeding symptoms were epistaxis (44.6%), cutaneous (38.9%), oral cavity (40.4%) bleeding and menorrhagia (44.3% of females of reproductive age). Fatal central nervous system bleeding and disabling joint bleeding occurred in three patients each. The majority of patients (89.6%) had FVII activity (FVII:C) <= 10% and the proportion of symptomatic patients in this group (79.8%) was significantly higher than that in the groups with FVII:C >10%-25% (41.7%) and >25%-50% (37.5%) (chi(2) = 13.641, p = 0.001). Major bleeds occurred only in patients with FVII:C <= 10%. In total 55 patients underwent genotype analysis: most variants were missense (62.5%) and most patients had homozygous/compound heterozygous (85.4%) variants. Prothrombin complex concentrates (72.4%) were the most frequently used on-demand replacement therapy. Prophylaxis before delivery decreased the risk of postpartum bleeding in women (chi(2) = 69.243, p = 0.000). Our study provides useful information on the phenotype, genotype and current status of FVII-deficiency patients management and may promote further exploration and care of this population in the future.

Automated summary

This study investigated the clinical phenotype and genotype of patients with congenital factor VII (FVII) deficiency in China and showed their current management status. The majority of patients had FVII activity <= 10%, which was associated with various bleeding symptoms. Prothrombin complex concentrates were the most frequently used on-demand replacement therapy. Prophylaxis before delivery decreased the risk of postpartum bleeding in women of reproductive age.