TY - JOUR
T1 - Issues concerning the laboratory investigation of inherited thrombophilia
AU - Tripodi, Armando
PY - 2005
Y1 - 2005
N2 - Inherited thrombophilia, defined as an increased familial tendency to develop thrombosis, may be due to congenital deficiencies or abnormalities of antithrombin, protein C or protein S; to the presence of a point mutation in the factor V gene (G1691A, factor V Leiden) leading to a poor anticoagulant response to activated protein C; or to the presence of a mutation in the prothrombin gene (G20210A) leading to increased plasma levels of prothrombin. The laboratory investigation of inherited thrombophilia should be limited to patients with a history of venous thromboembolism and, if positive, to their family members even though they are still asymptomatic. There is no indication for indiscriminate screening of the general population or screening of asymptomatic women before prescribing oral contraceptives. Testing should be based on the phenotype for antithrombin, protein C and protein S; on the phenotype and genotype (factor V Leiden mutation) for activated protein C resistance; and on the genotype (G20210A mutation) for hyperprothrombinemia. Phenotypic testing should be performed no sooner than three months after acute thrombotic events and at least 2 weeks after discontinuation of oral anticoagulant treatment.
AB - Inherited thrombophilia, defined as an increased familial tendency to develop thrombosis, may be due to congenital deficiencies or abnormalities of antithrombin, protein C or protein S; to the presence of a point mutation in the factor V gene (G1691A, factor V Leiden) leading to a poor anticoagulant response to activated protein C; or to the presence of a mutation in the prothrombin gene (G20210A) leading to increased plasma levels of prothrombin. The laboratory investigation of inherited thrombophilia should be limited to patients with a history of venous thromboembolism and, if positive, to their family members even though they are still asymptomatic. There is no indication for indiscriminate screening of the general population or screening of asymptomatic women before prescribing oral contraceptives. Testing should be based on the phenotype for antithrombin, protein C and protein S; on the phenotype and genotype (factor V Leiden mutation) for activated protein C resistance; and on the genotype (G20210A mutation) for hyperprothrombinemia. Phenotypic testing should be performed no sooner than three months after acute thrombotic events and at least 2 weeks after discontinuation of oral anticoagulant treatment.
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U2 - 10.2165/00066982-200509040-00003
DO - 10.2165/00066982-200509040-00003
M3 - Article
C2 - 16392896
AN - SCOPUS:30044440185
VL - 9
SP - 181
EP - 186
JO - Molecular Diagnosis
JF - Molecular Diagnosis
SN - 1084-8592
IS - 4
ER -