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Congenital Factor XI Deficiency: A Single-center Retrospective Analysis of 80 Cases

1State Key Laboratory of Experimental Hematology, National Clinical Research Center for Hematological Disorders, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China, 2CAMS Key Laboratory of Gene Therapy for Blood Diseases, Tianjin, China, 3Tianjin Laboratory of Blood Disease Gene Therapy, Tianjin, China, 4Tianjin Sino-US Diagnostics Co., Tianjin, China

Abstract Number: PB0704

Meeting: ISTH 2021 Congress

Theme: Hemophilia and Rare Bleeding Disorders » Rare Bleeding Disorders

Background: Congenital factor XI (FXI) deficiency is an autosomal incomplete recessive hereditary hemorrhagic disease caused by FXI gene(F11) mutation. The global incidence rate is about 1/1 million, with the highest incidence among Jews. Most of the patients have no symptoms or mild bleeding symptoms. The treatment included antifibrinolytic drugs, fresh frozen plasma, FXI concentrate and recombinant FVIIa.

Aims: To analyze the clinical manifestation, laboratory examination, treatment and prognosis of patients with congenital FXI deficiency.

Methods: The clinical data of 80 patients with congenital FXI deficiency in Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences 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. Twenty-seven 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.

Conclusions: Most patients with congenital FXI 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.

To cite this abstract in AMA style:

Wang X, Zhang D, Liu X, Xue F, Liu W, Chen Y, Fu R, Zhang L, Yang R. Congenital Factor XI Deficiency: A Single-center Retrospective Analysis of 80 Cases [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/congenital-factor-xi-deficiency-a-single-center-retrospective-analysis-of-80-cases/. Accessed November 28, 2023.

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