Living With Factor VII Deficiency-A Mixed Methods Study.

BACKGROUND: Factor VII deficiency (FVIID) is a rare autosomal recessive disorder, resulting in potentially unpredictable and life-threatening bleeding. The prevalence of symptomatic patients is 1 in 300,000. Treatment is mostly given following bleeding, but those with the lowest levels may be offered prophylaxis. OBJECTIVES: We aimed to explore the real-life impact of FVIID on individuals and their families, focusing on psychosocial wellbeing and quality of life (QoL). METHODS: The study used a quantitative survey, including validated QoL tools, and qualitative one-to-one interviews to enable deeper exploration of the quantitative findings. RESULTS: One hundred people with FVIID (74 adults; 26 caregivers of children) completed the survey; 24 (18 adults; 6 caregivers) were interviewed. A significant gender-based disparity was observed: males were diagnosed at a median age of 4 years, versus 17 years in females (p < 0.001). 56% of respondents reported a mean of 1.25 bleeds per week; significantly higher in women than men (mean 1.65 vs. 0.53/week, respectively; p < 0.01). QoL scores decreased with increased bleeding measured by the self-BAT (p < 0.001). Bleeding was associated with significant social impact: missed physical activity (64%), avoidance of social engagements (53%) and lost education (50%). Interviews yielded six core themes associated with unmet need. CONCLUSION: FVIID causes significant challenges, disproportionately borne by women and compounded by gaps in management, especially treatment. Current treatments are burdensome and fail to prevent breakthrough bleeds. People with FVIID have unmet needs that require therapeutic innovation, improved diagnosis and management strategies, and data collection to improve their QoL and outcomes.