Hypercoagulability testing in asymptomatic patients with a family history.
Posted Nov 06 2009 10:02pm
The test for Factor V Leiden was most often used in nonacute outpatient settings by primary care practitioners, in combination with other tests for procoagulant disorders. A recent review of teh patterns of care revelad that testing was performed more broadly than recommended: 61% of tests met American College of Medical Genetics guidelines, 46% of tests met CAP guidelines, and 37% of tests met group health internal guidelines. The most common rationale for testing was to explain a clinical event (58%). Patient management was modified more often in heterozygotes (54%) than in those with normal results (13%) (P < 0.0001).
It is generallya ccepted that testing for ypercoagulable syndromes in patients with no thrmobotic events and no risk factors should nto be done solely based on family hisotry. This is because current guidelines do not recommend prophylactic anticoagulation. A possilbe exception may be when OCP (over the counter contraceptives) use is being considered.
American College of Medical Genetics says (2006): "While predictive testing in asymptomatic individuals and in relatives of known factor V Leiden or prothrombin 20210G>A carriers is technically possible, its clinical utility for that purpose is markedly hampered by the low penetrance of the mutations and the appreciable risks inherent in prophylactic anticoagulant therapy".
Laberge, Anne Use of Factor V Leiden genetic testing in practice and impact on management Genetics in Medicine: October 2009 - Volume 11 - Issue 10 - pp 750-756
Lucia A. Hindorff, PhD, MPH; Wylie Burke, MD, PhD; Anne-Marie Laberge, MD, MPH; Kenneth M. Rice, PhD; Thomas Lumley, PhD; Kathleen Leppig, MD; Frits R. Rosendaal, MD, PhD; Eric B. Larson, MD, MPH; Bruce M. Psaty, MD, PhD Motivating Factors for Physician Ordering of Factor V Leiden Genetic Tests Arch Intern Med. 2009;169(1):68-74.
Genetic susceptibility to venous thrombosis. N Engl J Med. 344: 2001; 1222-1231.
Oral contraceptives and the risk of venous thrombosis. N Engl J Med. 344: 2001; 1527-1535.
The test for Factor V Leiden was most often used in nonacute outpatient settings by primary care practitioners, in combination with other tests for procoagulant disorders. A recent review of teh patterns of care revelad that testing was performed more broadly than recommended: 61% of tests met American College of Medical Genetics guidelines, 46% of tests met CAP guidelines, and 37% of tests met group health internal guidelines. The most common rationale for testing was to explain a clinical event (58%). Patient management was modified more often in heterozygotes (54%) than in those with normal results (13%) (P < 0.0001).
It is generallya ccepted that testing for ypercoagulable syndromes in patients with no thrmobotic events and no risk factors should nto be done solely based on family hisotry. This is because current guidelines do not recommend prophylactic anticoagulation. A possilbe exception may be when OCP (over the counter contraceptives) use is being considered.
American College of Medical Genetics says (2006): "While predictive testing in asymptomatic individuals and in relatives of known factor V Leiden or prothrombin 20210G>A carriers is technically possible, its clinical utility for that purpose is markedly hampered by the low penetrance of the mutations and the appreciable risks inherent in prophylactic anticoagulant therapy".
Laberge, Anne Use of Factor V Leiden genetic testing in practice and impact on management Genetics in Medicine: October 2009 - Volume 11 - Issue 10 - pp 750-756
Lucia A. Hindorff, PhD, MPH; Wylie Burke, MD, PhD; Anne-Marie Laberge, MD, MPH; Kenneth M. Rice, PhD; Thomas Lumley, PhD; Kathleen Leppig, MD; Frits R. Rosendaal, MD, PhD; Eric B. Larson, MD, MPH; Bruce M. Psaty, MD, PhD Motivating Factors for Physician Ordering of Factor V Leiden Genetic Tests
Arch Intern Med. 2009;169(1):68-74.
Genetic susceptibility to venous thrombosis. N Engl J Med. 344: 2001; 1222-1231.
Oral contraceptives and the risk of venous thrombosis. N Engl J Med. 344: 2001; 1527-1535.
http://www.acmg.net/pages/acmg_activities/stds-2002/fv-pt.htm