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High Prevalence of Congenital Factor VII (FVII) Deficiency in Adolescent Females with Heavy Menstrual Bleeding and Iron Deficiency Anemia

  • Alyson Trillo
    Affiliations
    Holtz Children's Hospital – Jackson Memorial Medical Center, Miami, Florida

    Division of Pediatric Hematology-Oncology, Department of Pediatrics. University of Miami – Miller School of Medicine, Miami, Florida
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  • Rachel Kronenfeld
    Affiliations
    Holtz Children's Hospital – Jackson Memorial Medical Center, Miami, Florida

    Division of Pediatric Hematology-Oncology, Department of Pediatrics. University of Miami – Miller School of Medicine, Miami, Florida
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  • Judith Simms-Cendan
    Affiliations
    Division of Pediatric Adolescent Gynecology, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Miami – Miller School of Medicine, Miami, Florida
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  • Joanna A. Davis
    Affiliations
    Division of Pediatric Hematology-Oncology, Department of Pediatrics. University of Miami – Miller School of Medicine, Miami, Florida

    University of Miami – Hemophilia Treatment Center, Miami, Florida
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  • Fernando F. Corrales-Medina
    Correspondence
    Address correspondence to: Fernando Francisco Corrales-Medina, MD, Pediatrics, University of Miami Miller School of Medicine, 1121 NW14th St, Suite C, Miami, Florida 33136, United States; Phone (305) 243-8652; Fax (305) 243-0842.
    Affiliations
    Holtz Children's Hospital – Jackson Memorial Medical Center, Miami, Florida

    Division of Pediatric Hematology-Oncology, Department of Pediatrics. University of Miami – Miller School of Medicine, Miami, Florida

    University of Miami – Hemophilia Treatment Center, Miami, Florida
    Search for articles by this author

      ABSTRACT

      Study Objective

      To examine the clinical characteristics and prevalence of congenital bleeding disorders (CBDs), with emphasis on congenital factor VII (FVII) deficiency and other rare bleeding disorders, in adolescent and young adult females referred to a hemophilia treatment center (HTC) for evaluation and management of heavy menstrual bleeding (HMB) and iron deficiency anemia (IDA)

      Design

      In this single-center retrospective study, we reviewed the clinical characteristics and prevalence of CBDs in postmenarchal females, younger than 22 years of age, referred to an HTC from 2015 to 2021 for evaluation of HMB with or without IDA.

      Results

      One hundred females, with a mean age of 15 years (range 9-20 years), met initial study criteria, and 95 were included in the final analysis. Forty-five (47%) females were ultimately diagnosed with a CBD. The most prevalent diagnoses were FVII deficiency and type 1 von Willebrand disease (VWD) (42.3%, n = 19 each). Forty-two percent of patients with FVII deficiency had a low-for-age FVII activity level, 21.1% were only positive for the FVII R353Q variant associated with borderline FVII levels, whereas 36.8% had both a low-for-age FVII activity level and a positive R353Q variant. Eighty percent of patients with a CBD were found to have relatives with abnormal bleeding symptoms.

      Conclusion

      Congenital FVII deficiency is prevalent among female adolescents experiencing HMB with or without IDA. In addition to VWD, evaluation for this specific factor deficiency should be considered as part of the initial CBD workup. Presence of abnormal bleeding history in the family could also help to predict presence of a CBD.

      Key Words

      Abbreviations:

      FVII (Factor VII), HTC (Hemophilia Treatment Center), HMB (heavy menstrual bleeding), IDA (iron deficiency anemia), CBD (congenital bleeding disorder), VWD (von Willebrand Disease), VWF (von Willebrand Factor), RBD (rare bleeding disorder)
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