Type of test Blood

Normal findings

 Negative for factor V Leiden

 Test explanation and related physiology

 Factor V is an important factor in reaction 4 (common path way) of normal hemostasis. The term factor V Leiden (FVL) refers to an inherited abnormal form of the gene for fac tor V. The endogenous anticoagulant protein C is normally able to break down factor V at one of these cleavage sites. However, protein C cannot inactivate this same cleavage site on FVL. Therefore FVL is inactivated at a rate approximately 10 times slower than that of normal factor V and persists longer in the circulation. This results in increased thrombin generation and a mild, hypercoagulable state reflected by elevated levels of pro thrombin fragment F1 + 2 and other activated coagulation markers. This test is used to diagnose FVL-associated thrombophilia.

Individuals heterozygous for the FVL mutation have a slightly increased risk for venous thrombosis. Homozygous individuals have a much greater thrombotic risk (e.g., deep vein thrombosis [DVT], arterial thrombosis, or pulmonary embolism).

Individuals who are candidates for FVL testing include patients who

 • experienced a thrombotic event without any predisposing factors

• have a strong family history of thrombotic events

• experienced a thrombotic event before 30 years of age

 • experienced DVT during pregnancy or while taking birth control pills

 • had venous thrombosis at unusual sites (e.g., cerebral, mesenteric, portal, and hepatic veins)

• experienced an arterial clot

Testing for FVL is sometimes preceded by a coagulation screening test called the activated protein C (APC) resistance test. This test identifies resistance of factor V to APC. If APC resistance is identified, the patient then may choose to undergo mutation testing by DNA analysis of the F5 gene, which encodes the factor V protein. This testing should be accompanied by professional genetic counseling for the patient and family members.

Procedure and patient care

• See inside front cover for Routine Blood Testing.

• Fasting: no

• Blood tube commonly used: purple

• If the patient is having FVL mutation analysis, anticoagulants will not interfere with testing.

• As an alternative, genetic testing can be done on the patient’s cells obtained by a smear of the oral surface of the cheek.

• Remember: if the patient is receiving anticoagulants, the bleeding time will be increased.

Abnormal findings

- Activated protein C resistance

- Factor V Leiden genetic mutation (homozygous or heterozygous)

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