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

ElsevierVolume 35, Issue 6, December 2022, Pages 647-652Journal of Pediatric and Adolescent GynecologyAuthor links open overlay panelABSTRACTStudy 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

Heavy menstrual bleeding

Adolescent

Female

Iron deficiency anemia

von Willebrand disease

Factor VII deficiency

AbbreviationsHTC

Hemophilia Treatment Center

HMB

heavy menstrual bleeding

IDA

iron deficiency anemia

CBD

congenital bleeding disorder

VWD

von Willebrand Disease

RBD

rare bleeding disorder

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© 2022 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

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