Psychosocial Impact and Disease Management in Patients with Congenital Factor VII Deficiency

Abstract

Purpose

Congenital factor VII (FVII) deficiency is a rare bleeding disorder of variable phenotype with predominantly mucocutaneous bleeding. The aim of this study was to identify the burden of FVII deficiency on patients and caregivers through a better understanding of the management and psychosocial impact of this disease.

Materials and Methods

A rare disease specialty recruiter from Comprehensive Health Education Services recruited participants for this online survey, which was conducted from January 31 to March 12, 2019. A moderator-assisted questionnaire was used to collect data on demographics, diagnosis, treatment, and psychosocial impact.

Results

Of the 45 respondents (25 patients and 20 caregivers), the majority were female (56%). Respondents reported a wide variety of initial bleeding symptoms, including bruising (58%), epistaxis (56%), and menorrhagia (36% of females). Because symptoms varied between individuals and were not always severe, diagnosis was often delayed. Mean time to obtain a diagnosis was 6.5 years and mean age at first diagnosis was 12.9 years. One-quarter (24%) of the respondents reported more than 100 bleeds of any severity over the previous year. When treating bleeds, 44% of patients reported using antifibrinolytics, and 42% reported using recombinant activated factor VII. Almost 31% of respondents reported missing schooldays as children, and 16% reported losing or resigning from a job in adulthood as a direct result of their disease. Notably, 29% of caregivers and 10% of their partners had also experienced issues with employment. Forty percent of respondents reported not participating in contact sports during childhood, and 22% continued to avoid contact sports in adulthood.

Conclusion

Overall, FVII deficiency has a substantial psychosocial impact, but most patients are satisfied with their disease management and are optimistic about their future. Patients desire additional educational, social, and financial support.

Keywords:

• bleeding disorder
• psychosocial impact
• recombinant activated factor VII
• survey

Acknowledgments

This survey was sponsored by Novo Nordisk. Writing and editorial support were provided by PRECISIONscientia, Yardley, PA, in accordance with Good Publication Practice (GPP3) guidelines and were funded by Novo Nordisk. The authors would like to acknowledge Dr Shilpa Jain for her assistance with the data analysis.

Abbreviations

ATHN, American Thrombosis and Hemostasis Network; BAT, bleeding assessment tool; EN-RBD, European Network of Rare Bleeding Disorders; FVII, factor VII; ISTH, International Society on Thrombosis and Haemostasis; ISTH-SCC, International Society on Thrombosis and Haemostasis Scientific Standardization Committee; NHF, National Hemophilia Foundation; NHF-MASAC, National Hemophilia Foundation’s Medical and Scientific Advisory Council; PT, prothrombin time; rFVIIa, recombinant activated factor VII; STER, Seven Treatment Evaluation Registry.

Disclosure

SP is a consultant for Novo Nordisk. AK is a member of advisory boards for Novo Nordisk and Takeda and is a member of the speakers bureau for Takeda. JB is an employee of Comprehensive Health Education Services and reports grants from Novo Nordisk. AD is a consultant for Novo Nordisk. DLC and HS were employees of Novo Nordisk at the time of survey conception, drafting, and data collection and analysis. DLC is currently an employee of uniQure, Lexington, MA, USA. HS is currently an employee of Amgen, Thousand Oaks, CA, USA. The authors report no other conflicts of interest in this work.