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Case Reports
. 2025 Apr 18;17(4):e82526.
doi: 10.7759/cureus.82526. eCollection 2025 Apr.

A Family With Factor VII Deficiency: A Possible Autosomal Dominant Transmission

Zheng Song  1 , Stephenie Garcia  1 , Thiagarajan Nandhagopal  2 , Stanley Kim  3
Affiliations
Case Reports

A Family With Factor VII Deficiency: A Possible Autosomal Dominant Transmission

Zheng Song et al. Cureus. .

Abstract

Coagulation factor VII plays a crucial role in the extrinsic pathway of the coagulation cascade. Deficiency of coagulation factors, including factor VII, is a rare but recognized cause of abnormal uterine bleeding (AUB) in women. This case report presents an 11-year-old previously healthy girl who arrived at the emergency department with 18 days of heavy menstrual bleeding and hemodynamic instability due to severe anemia. Laboratory evaluation revealed prolonged prothrombin time (PT/INR) with a normal partial thromboplastin time (PTT). A factor VII activity assay confirmed a severely decreased serum factor VII level. Bleeding was successfully managed with recombinant human factor VII. Further family screening showed reduced factor VII activity in the patient's mother and three siblings, while the father's levels were normal, suggesting a possible dominant inheritance pattern. However, genetic testing is required to confirm this hypothesis.

Keywords: autosomal dominant inheritance; coagulation disorder; factor vii deficiency; genetic transmission; hereditary bleeding disorder.

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Conflict of interest statement

Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Kern Medical Center issued approval 24118. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. Patient family pedigree with each member's factor VII activity
Red arrow: patient
See this image and copyright information in PMC

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