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Updated: Dec 18, 2025
Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
Published on: September 9, 2012
[Congenital factor Ⅶ deficiency: a retrospective analysis of 43 cases]
1State 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.
Insights
Congenital factor VII deficiency often presents with mild or no bleeding, but can cause excessive bleeding after surgery. Prophylaxis with recombinant activated factor VII is recommended for severe cases.
Area of Science:
- Hematology
- Medical Genetics
Background:
- Congenital factor VII (FVII) deficiency is a rare bleeding disorder.
- Understanding its clinical spectrum and management is crucial.
Purpose of the Study:
- To investigate the pathogenesis, clinical features, laboratory findings, diagnosis, treatment, and prognosis of congenital FVII deficiency.
- To identify correlations between FVII activity and bleeding severity.
Main Methods:
- Retrospective analysis of clinical data from 43 patients diagnosed with congenital FVII deficiency.
- Review of laboratory findings, including prothrombin time (PT), activated partial thromboplastin time (APTT), and FVII activity (FVII:C).
- Analysis of gene mutation data, treatment modalities, and patient outcomes.
Main Results:
- Most patients (67.4%) experienced bleeding symptoms, primarily mucocutaneous bleeding, oral bleeding, and epistaxis.
- Menorrhagia affected 47.6% of women of reproductive age.
- Laboratory findings included prolonged PT, normal APTT, and decreased FVII:C; 3 new mutations were identified.
- Treatment varied, with prothrombin complex concentrates (PCC), fresh frozen plasma (FFP), and recombinant activated FVII (rFVIIa) used.
- No significant correlation was found between FVII:C levels and bleeding symptom severity.
Conclusions:
- Congenital FVII deficiency often manifests as mild or absent bleeding, but carries a risk of excessive bleeding post-surgery or trauma.
- Prophylaxis is advised for severe bleeding symptoms, with rFVIIa being the preferred treatment.
- Gene mutation testing is valuable for disease screening, diagnosis, and prognosis prediction.
Abstract:
Objective: To explore the pathogenesis, clinical characteristics, laboratory findings, diagnosis, treatment, and prognosis of congenital factor Ⅶ (FⅦ) deficiency. Methods: Clinical data of 43 patients with congenital FⅦ deficiency 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 FⅦ activity (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 FⅦ deficiency 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.
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