Congenital factor X deficiency: a retrospective analysis of 11 cases.
10.3760/cma.j.issn.0253-2727.2022.01.006
- Author:
Rong Wei LI
1
;
Xiao Fan LIU
1
;
Feng XUE
1
;
Yun Fei CHEN
1
;
Wei LIU
1
;
Rong Feng FU
1
;
Lei ZHANG
1
;
Rong Chi YANG
1
Author Information
1. State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
- Publication Type:Journal Article
- Keywords:
Clinical data;
Factor Ⅹ deficiency;
Retrospective analysis
- MeSH:
Adolescent;
Adult;
Blood Coagulation Factors/therapeutic use*;
Blood Coagulation Tests;
Child;
Child, Preschool;
Factor X Deficiency/genetics*;
Female;
Hemorrhage/drug therapy*;
Humans;
Male;
Middle Aged;
Plasma;
Retrospective Studies;
Young Adult
- From:
Chinese Journal of Hematology
2022;43(1):26-30
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To analyze the clinical characteristics, laboratory examination, diagnosis, treatment, and outcome of hereditary factor Ⅹ (FⅩ) deficiency. Methods: Clinical data of 11 patients with congenital FⅩ deficiency were retrospectively analyzed from July 2009 to February 2021. Results: There were 3 males and 8 females. Median age was 39 (5-55) years. The media duration of follow-up was 81.67 (1.87-142.73) months. Of the 11 patients, 10 had bleeding symptoms, 7 had ecchymosis or hemorrhage after skin bump, 7 had nosebleed, 6 had gingival hemorrhage, and 1 had muscle hematoma. Among the female patients, 6 had menorrhagia and 1 experienced bleeding after vaginal delivery. Family history of FⅩ deficiency was found in one case. Eight patients had a history of surgery, and four had postoperative bleeding. Laboratory findings were characterized by significantly prolonged activated partial thromboplastin time, prothrombin time, and decreased FⅩ activity (FⅩ∶C) . Four cases underwent gene mutation analysis and five new mutations were found. Four cases were treated with prothrombin complex concentrates (PCC) and seven cases with fresh frozen plasma (FFP) . One female patient had significantly reduced menstrual volume after PCC prophylactic therapy. One patient received FFP for prophylactic infusion with no bleeding during and after the operation. Conclusion: Most patients with congenital FⅩ deficiency had bleeding symptoms and there was no significant correlation between severity of bleeding symptoms and FⅩ∶C. Prophylaxis should be applied in patients with severe bleeding tendencies. Gene mutation test is significant for screening, diagnosis, and prognosis prediction of congenital FX deficiency.
