Description Factor V Leiden deficiency is an inherited disorder that results in th...
Description
Factor V Leiden deficiency is an inherited disorder that results in the increased risk of clot formation in the body (hypercoagulable state). Normally, factor V helps promote the formation of a clot and is broken down by a protein called protein C. In this disorder, the factor V that is produced cannot be easily broken down by protein C and therefore, produces more clots than usual. An individual's clotting risk increases with smoking and the use of birth control pills.
Symptoms
The majority of individuals are asymptomatic. Symptoms develop when abnormal clotting occurs and are related to the location of the clot. If a clot occurs in the arm or leg (deep venous thrombosis), individuals may experience pain, swelling or redness of the limb. If a clot travels to the lung (pulmonary embolism), individuals may experience chest pain, fever or shortness of breath.
Tests
Common tests used for diagnosis and treatment
Workup:
A history and physical exam will be performed. The diagnosis can be confirmed based on certain blood tests. Imaging studies, such as an ultrasound or CT scan, may be performed if symptoms suggest the formation of a blood clot.
Tests:
Complete blood count (CBC), CT Scan, Activated partial thromboplastin (aPTT or PTT), Ultrasound
Other Specific Tests: coagulation studies, genetic testing, russell viper venom time
Specialists:
Blood and Cancer Care (hematology and oncology), Pediatric Hematology and Oncology, Clinical Genetics
Workup:
A history and physical exam will be performed. The diagnosis can be confirmed based on certain blood tests. Imaging studies, such as an ultrasound or CT scan, may be performed if symptoms suggest the formation of a blood clot.
Tests:
Complete blood count (CBC), CT Scan, Activated partial thromboplastin (aPTT or PTT), Ultrasound
Other Specific Tests: coagulation studies, genetic testing, russell viper venom time
Specialists:
Blood and Cancer Care (hematology and oncology), Pediatric Hematology and Oncology, Clinical Genetics
Treatment
Treatment is not necessary in most cases. However, individuals who experience the formation of a blood clot will be placed on blood-thinning drugs, such as heparin, low-molecular-weight heparin, warfarin (Coumadin) or one of the newer anticoagulant drugs.