Factor V leiden homozygosity, dyspnea, and reduced pulmonary function.

Area of Science:

• Pulmonary Medicine
• Genetics
• Thrombosis

Background:

• Factor V Leiden homozygosity is a known risk factor for deep venous thrombosis and pulmonary embolism.
• The study investigated a potential link between this genetic factor and chronic pulmonary disease through minor, unrecognized pulmonary emboli.

Purpose of the Study:

• To test the hypothesis that factor V Leiden homozygosity is associated with pulmonary symptoms and signs.
• To explore the relationship between factor V Leiden homozygosity and conditions like dyspnea and impaired lung function.

Main Methods:

• A general population sample of 9253 individuals from the Copenhagen City Heart Study was analyzed.
• Pulmonary endpoints including dyspnea and lung function (forced expiratory volume in 1 second, forced vital capacity) were assessed.
• Data from multiple examination periods (1976-1994) were utilized.

Main Results:

• Factor V Leiden homozygotes (n=20) showed significantly higher rates of severe dyspnea (32%) compared to non-carriers (6%) (P<.001).
• Adjusted odds ratio for severe dyspnea in homozygotes was 5.4 (95% CI, 1.9-15.7).
• Homozygotes exhibited 5-10% lower lung function (FEV1, FVC) and a faster annual decline in these measures compared to non-carriers (P=.003 and P=.03).
• Factor V Leiden heterozygosity did not show a significant association with pulmonary symptoms or lung function.

Conclusions:

• Factor V Leiden homozygosity is associated with a previously unrecognized clinical presentation.
• This presentation includes severe dyspnea and decreased pulmonary function.
• The findings suggest a role for factor V Leiden homozygosity in the development of chronic pulmonary issues.