遗传性凝血因子Ⅺ缺乏症80例临床分析

OBJECTIVE: To analyze the clinical manifestation, laboratory examination, treatment and prognosis of congenital factor Ⅺ（FⅪ）deficiency. METHODS: The clinical data of 80 patients with congenital F Ⅺ deficiency in our hospital from September 2006 to October 2020 were analyzed retrospectively. RESULTS: Among the 80 patients, there were 33 males（41.3％）and 47 females（58.8％）, with a median age of 32（2-66）years. Twenty-eight cases（35.0％）had bleeding events, including 11 cases of spontaneous bleeding（13.8％）, 9 cases of ecchymosis or bleeding after skin trauma（11.3％）, 9 cases of postoperative bleeding（11.3％）. Among the female patients, there were 11 cases of menorrhagia（23.4％）and 1 case of bleeding after vaginal delivery（2.1％）. Laboratory examination were characterized by prolonged activated partial thromboplastin time（APTT）, normal prothrombin time（PT）, and decreased FⅪ activity（FⅪ∶C）. Nine patients（11.3％）were tested for FⅪ gene（F11）with 11 mutations. Twentyseven patients（33.8％）received fresh frozen plasma（FFP）treatment, 15 patients（18.8％）were received for prophylaxis with no bleeding occurred during and after operation. CONCLUSION: Most patients with congenital F Ⅺ deficiency have no or mild bleeding symptoms. There was no significant correlation between FⅪ∶C and the severity of bleeding symptoms, and there was a well consistency between FⅪ∶C and F11 homozygous or heterozygous mutation type. Prophylactic infusion of FFP can effectively reduce the risk of operative bleeding.