Factor VII deficiency is more prevalent than previously reported

Area of Science:

• Hematology
• Genetics
• Epidemiology

Background:

• Factor VII (FVII) deficiency prevalence is globally estimated at 1 in 500,000.
• Low FVII activity (FVII:C) is frequently observed in Östergötland, Sweden.

Purpose of the Study:

• To determine the prevalence of FVII deficiency in adults in Östergötland, Sweden.
• To assess the bleeding tendency in adult patients with FVII deficiency and low FVII levels.

Main Methods:

• Retrospective cross-sectional study utilizing laboratory data from 2017-2022.
• Identified adult patients with FVII:C ≤ 0.50 kIU/L.
• Classified patients into FVII deficiency (<0.35 kIU/L) or low FVII level (0.35-0.50 kIU/L) and evaluated bleeding symptoms.

Main Results:

• Identified 97 patients with FVII:C ≤ 0.50 kIU/L.
• Prevalence of FVII deficiency (≥0.35 kIU/L) was at least 1 in 17,800 adults; low FVII level (0.35-0.50 kIU/L) was 1 in 9600.
• FVII deficiency patients showed significantly more bleeding symptoms (P=.01) than low FVII level patients.

Conclusions:

• FVII deficiency prevalence in Östergötland is at least 1 in 17,800, 28 times higher than international estimates.
• Spontaneous bleeding occurred in 43% of FVII-deficient individuals in this region.
• The study highlights a higher-than-expected prevalence and associated bleeding risk in Östergötland.