Factor V Leiden mutation: a nursing perspective

The factor V Leiden mutation is a recently described autosomal dominant genetic risk factor for venous thromboembolism (VTE). Persons who are heterozygous or homozygous for this disorder are at 4 to 7 times and 50 to 100 times increased risk, respectively, for VTE. In particular, women have unique challenges because the presence of the Leiden mutation in combination with pregnancy or use of oral contraceptives results in an even greater increased risk for VTE. This article will review the factor V Leiden mutation, its association with VTE, and the genetic inheritance pattern and ethnic distribution. Oral contraceptive use, pregnancy, and hormone replacement therapy in women with the Leiden mutation will be discussed. Screening issues and management for all patients, and women in particular, will be addressed. Nursing implications for care management of this group of patients is complex and requires evaluation of the significance of newly defined genetic disorders such as the factor V Leiden mutation. Nurses need to be knowledgeable about genetic screening, risk factors, risk-reduction counseling, and considerations for long-term therapy, which include quality of life issues. Two case studies exemplify many of the issues that will be discussed.