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Updated: May 21, 2025

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

Zheng Song1, Stephenie Garcia1, Thiagarajan Nandhagopal2

  • 1Family Medicine, Rio Bravo Family Medicine Residency Program, Bakersfield, USA.

Cureus
|May 19, 2025
PubMed

Insights

A rare factor VII deficiency caused severe anemia and heavy menstrual bleeding in an 11-year-old girl. Treatment with recombinant factor VII was successful, and family screening suggested a dominant inheritance pattern.

Area of Science:

  • Hematology
  • Genetics
  • Pediatrics

Background:

  • Coagulation factor VII is vital for the extrinsic pathway of hemostasis.
  • Factor VII deficiency is a rare cause of abnormal uterine bleeding (AUB).

Observation:

  • An 11-year-old girl presented with prolonged heavy menstrual bleeding and hemodynamic instability.
  • Initial labs showed prolonged PT/INR with normal PTT, indicating a potential coagulation factor issue.

Findings:

  • Severe factor VII deficiency was confirmed by activity assay.
  • The patient's bleeding was effectively managed using recombinant human factor VII.
  • Family screening indicated reduced factor VII activity in maternal relatives, suggesting possible dominant inheritance.

Implications:

  • Highlights factor VII deficiency as a critical differential diagnosis for AUB in adolescents.
  • Demonstrates the efficacy of recombinant factor VII in managing acute bleeding episodes.
  • Underscores the need for genetic testing to confirm inheritance patterns in coagulation disorders.

Keywords:
autosomal dominant inheritancecoagulation disorderfactor vii deficiencygenetic transmissionhereditary bleeding disorder

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