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Tests and diagnosis
By Mayo Clinic staffYour doctor will likely suspect factor V Leiden if you've had one or more episodes of thrombosis or pregnancy loss or if you have a strong family history of thrombotic disease. Your doctor can confirm that you have factor V Leiden with a blood test. Two types of tests can be done:
- Activated protein C resistance test. Your blood sample may be tested to determine whether your blood is resistant to activated protein C, one of the anti-clotting proteins that help control factor V. This is known as an activated protein C (APC) resistance assay. If your blood is resistant to activated protein C, you likely have a mutation in the factor V gene.
- Genetic test. A genetic test either is done as a secondary test to confirm the results of the APC resistance assay or is done alone to determine whether you have a factor V gene mutation. If you're already taking medication for thrombosis, you're likely to have only the genetic test because blood-thinning (anticoagulant) medications interfere with the activated protein C resistance test. The genetic test also can determine whether you've inherited one or two copies of the gene mutation.
References
- Learning about factor v Leiden thrombophilia. National Human Genome Research Institute. http://www.genome.gov/pfv.cfm?pageID=15015167. Accessed May 21, 2010.
- Ornstein DL, et al. Factor V Leiden. Circulation. 2003;107:e94.
- Deep vein thrombosis. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec07/ch081/ch081b.html. Accessed May 21, 2010.
- Pulmonary embolism. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec05/ch050/ch050a.html. Accessed May 21, 2010.
- Laubach J, et al. Hematological changes of pregnancy. In: Hoffman R, et al. Hematology: Basic Principles and Practice. 5th ed. Philadelphia, Pa.: Churchill Livingstone Elsevier; 2008. http://www.mdconsult.com/book/player/book.do?method=display&type=aboutPage&decorator=header&eid=4-u1.0-B978-0-443-06715-0..X5001-8--TOP&isbn=978-0-443-06715-0&uniq=203749156. Accessed May 21, 2010.
- Konkle BA, et al. Hemostasis, thrombosis, fibrinolysis, and cardiovascular disease. In: Libby P, et al. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 8th ed. Philadelphia, Pa.: Saunders Elsevier; 2007. http://www.mdconsult.com/book/player/book.do?method=display&type=aboutPage&decorator=header&eid=4-u1.0-B978-1-4160-4106-1..X5001-8--TOP&isbn=978-1-4160-4106-1&uniq=203749156. Accessed May 21, 2010.
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