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Factor V deficiency is a rare bleeding disorder. Diagnosis involves clotting factor assays, mixing studies, and genetic testing for effective management with plasma or factor concentrates.

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Area of Science:

  • Hematology
  • Genetics

Background:

  • Factor V deficiency is a rare inherited bleeding disorder, affecting approximately one in a million individuals.
  • It can arise from biallelic mutations causing homozygous or compound heterozygous mutations, also known as Owren's disease or parahemophilia.

Observation:

  • A 22-year-old female presented with prolonged menorrhagia.
  • Initial investigations revealed prolonged prothrombin time (PT) and partial thromboplastin time (PTT), with normal Factor I levels.
  • Anatomic causes for menorrhagia were ruled out.

Findings:

  • Diagnostic workup, including mixing studies, specific factor assays, and genetic testing, confirmed Factor V deficiency.
  • This confirmed the underlying cause of the patient's bleeding symptoms.

Implications:

  • Early and accurate diagnosis of Factor V deficiency is crucial for appropriate patient management.
  • Treatment options include fresh frozen plasma (FFP) or factor V concentrates.
  • Understanding the genetic basis aids in diagnosis and potential future therapeutic strategies.