遗传性凝血因子Ⅶ缺乏症43例回顾性研究

OBJECTIVE: To explore the pathogenesis, clinical characteristics, laboratory findings, diagnosis, treatment, and prognosis of congenital factorⅦ（FⅦ）deficiency. METHODS: Clinical data of 43 patients with congenital FⅦdeficiency diagnosed from April 1999 to September 2019 were retrospectively analyzed. RESULTS: There were 27 females and 16 males. Median age was 16（1–70）years. Family history was found in 6 cases. There were 29（67.4%）cases with bleeding symptoms, most common of which were mucocutaneous bleeding（13 cases, 30.2%）, oral bleeding（13 cases, 30.2%）, and epistaxis（9 cases, 20.9%）. Menorrhagia occurred in 11 cases（47.6%of female patients who were in fertile age）. Laboratory findings were characterized by significantly prolonged prothrombin time（PT）, normal partial thromboplastin time（APTT）, and decreased FⅦactivity（FⅦ∶C）. Ten cases received gene mutation analysis and 3 new mutations were found. Fourteen cases（32.6%）were treated with prothrombin complex concentrates（PCC）, 12（27.9%）with fresh frozen plasma（FFP）, and 3（7.0%）with human recombinant activated FⅦ（rFⅦa）. Twenty cases（46.5%）with no or mild bleeding symptoms did not receive any replacement therapy. Previous bleeding symptoms recurred in 5 patients（11.6%）, 8 females still had heavy menstrual bleeding, and 9 patients（20.9%）were lost to follow-up. CONCLUSION: Most patients with congenital FⅦdeficiency have mild or no bleeding symptoms, but have a tendency to excessive bleeding after surgery or trauma. There is no significant correlation between FⅦ: C and severity of bleeding symptoms. Prophylaxis should be applied in patients with severe bleeding symptoms and rFⅦa is the first choice. Gene mutation test is significant for screening, diagnosis, and prognosis prediction of the disease.