Is protein C deficiency the same as Factor 5 Leiden?

Is protein C deficiency the same as Factor 5 Leiden?

Factor V Leiden mutation, Protein C and S deficiency are the leading causes of thrombophilia with strong association of Factor V Leiden as a risk for developing DVT and CVA. Diagnostic workup of thrombophilia should include screening for FVL, protein C, protein S and AT III deficiency.

Which substitution is present in FVL Factor V Leiden?

Factor V Leiden (FVL) refers to the specific G-to-A transition at nucleotide 1601 (c. 1601G>A) in exon 10 of the factor V gene, which results in arginine to glutamine substitution at amino acid 534 of the protein (p. Arg534Gln), previously known as p. Arg506Gln.

What is the positive predictive value for the Factor V Leiden test for DVT?

For patients with positive family history of VTE patients, the probability of having FVL, the positive predictive value of the test, is 5.6% with 95% C.I 3.6, 8.3 % (Table 2).

What is the best anticoagulant for Factor V Leiden?

For patients with confirmed deep vein thrombosis or pulmonary embolism, anticoagulant therapy with subcutaneous low molecular-weight heparin, monitored IV, or subcutaneous unfractionated heparin or fondaparinux can be used [5].

What can high D-dimer indicate?

Having a high D-dimer level in your blood can be a sign of a blood clotting disorder since the level of D-dimer can rise greatly when there’s significant formation and breakdown of blood clots in your body.

How do you screen for factor V Leiden mutation?

Most laboratories screen ‘at risk’ patients with either a snake venom (e.g. dilute Russell’s viper venom time) based test or an aPTT based test. In both methods, the time it takes for blood to clot is decreased in the presence of the factor V Leiden mutation.

What is the recommended molecular analysis of factor V Leiden (R506Q) mutations?

Recommendation 6 The factor V Leiden (R506Q) mutation is currently the only molecular analysis of the factor V gene indicated in the routine workup of thrombotic risk. Issue 7: What are the recommended methodologies and quality assurance standards for performing these tests?

Should informed consent be required for factor V Leiden testing?

Formal informed consent should not be required for factor V Leiden testing, but individuals being tested should be made aware that this is a genetic test, that test results have implications about risk in other family members, and that there may be attendant issues of confidentiality and possible insurance discrimination.

Which patients testing positive for factor V Leiden or APC resistance should be tested?

Patients testing positive for factor V Leiden or APC resistance should be considered for molecular genetic testing for the most common other thrombophilias with overlapping phenotype for which testing is easy and readily available. At present, only the prothrombin 20210A variant fits these criteria.