From the Guidelines
To diagnose Factor V deficiency in a 15-year-old female with menorrhagia, order specific coagulation tests including prothrombin time (PT), activated partial thromboplastin time (aPTT), and a specific Factor V activity assay, as the most recent and highest quality study 1 emphasizes the importance of accurate diagnosis in bleeding disorders. The diagnostic approach should prioritize the identification of Factor V deficiency as a potential cause of bleeding disorders. Key steps in the diagnostic process include:
- Ordering specific coagulation tests, such as PT and aPTT, which will typically be prolonged in Factor V deficiency, as noted in 1.
- Conducting a specific Factor V activity assay, which will show reduced levels (normal range is 50-150%) in Factor V deficiency, as discussed in 1.
- Performing a mixing study to differentiate between factor deficiencies and inhibitors, as recommended in 1.
- Obtaining a complete blood count to assess for anemia, as mentioned in 1.
- Taking a comprehensive bleeding history, including family history of bleeding disorders, to identify potential genetic components, as emphasized in 1.
- Evaluating for other causes of heavy menstrual bleeding, such as von Willebrand disease, platelet disorders, or structural abnormalities, as discussed in 1. It is essential to consider the patient's age, medical history, and family history when interpreting the results of these tests, as highlighted in 1. Additionally, the use of tranexamic acid (TXA) and desmopressin (DDAVP) may be considered for managing heavy menstrual bleeding in patients with bleeding disorders of unknown cause, as discussed in 1. However, the primary focus should be on accurately diagnosing Factor V deficiency and developing an appropriate treatment plan to manage the condition and prevent further complications, as emphasized in 1.
From the Research
Diagnostic Approach
The diagnostic approach for a 15-year-old female with menorrhagia (heavy menstrual bleeding) and suspected factor V (coagulation factor five) deficiency involves several steps:
- A menstrual and gynaecological history to identify the severity of the bleeding and any potential underlying causes 2, 3
- A bleeding score to distinguish those who require additional haematological investigations 2
- A pelvic examination and ultrasound scan to rule out any underlying uterine pathology 2, 3
- Laboratory assessments for anemia, ovulatory dysfunction, and underlying bleeding disorders, including factor V deficiency 3, 4
Laboratory Tests
Laboratory tests may include:
- Blood tests to check for anemia, iron deficiency, and bleeding disorders, such as factor V deficiency 3, 4
- Coagulation studies to evaluate the patient's clotting ability 3
Referral to Specialist Care
Referral to a hematologist or a multidisciplinary hematology-adolescent gynecology clinic may be necessary for further evaluation and management, especially if a bleeding disorder is suspected 3, 5, 4
Treatment Options
Treatment options for heavy menstrual bleeding in adolescents with suspected factor V deficiency may include:
- Hemostatic medications, such as tranexamic acid, to reduce bleeding 2, 3
- Hormonal agents, such as combined oral contraceptives or the levonorgestrel-releasing intrauterine system (LNG-IUS), to regulate menstrual cycles and reduce bleeding 2, 6, 4
- Factor concentrate administration during menses to alleviate symptoms in cases of severe bleeding disorders 2