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Thrombophilia screening

Thrombophilia screening. Gualtiero Palareti Dept. Angiology & Blood Coagulation “Marino Golinelli” University Hospital S. Orsola-Malpighi Bologna, Italy. Ascertained t h rombo ph ilic alterations. Prevalen ce of t h rombo ph ilic alterations in the general population.

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Thrombophilia screening

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  1. Thrombophilia screening Gualtiero Palareti Dept. Angiology & Blood Coagulation“Marino Golinelli”University Hospital S. Orsola-Malpighi Bologna, Italy

  2. Ascertained thrombophilic alterations

  3. Prevalenceof thrombophilic alterations in the general population

  4. Prevalenceof thrombophilic alterations in subjects with VTE events

  5. May Thrombophilia Screening affect the initial treatment of DVT? NO!!

  6. May Thrombophilia Screening affect the choice of the initial anticoagulant drug? Not now In future, an immediately active anticoagulant that does not need antithrombin (AT) may be preferred when AT is reduced

  7. May results of Thrombophilia Screening be useful to assess the risk of recurrence?

  8. From Baglin et al.Lancet 2003

  9. (from Christiansen et al, JAMA 2005)

  10. Ho et al, Arch Intern Med 2006Risk of recurrence in common thrombophilia

  11. Recurrence in subjects with/without thrombophilia(Palareti et al. Circulation 2003)

  12. D-d carried out 1 month after OAT interruption and recurrences (Palareti et al., Circulation 2003)

  13. Cumulative probability of VTE recurrence according to the plasma levels of Factor VIII in patients with a first unprovoked VTE. Legnani et al, Br J Haematol 2004

  14. Not all the thrombophilic defects carry the same risk

  15. Risk of recurrent venous thromboembolismin patients with hereditarydeficiency of either protein S, protein C or antithrombin (Brouwer et al. Thromb Haemost 2009) Conclusions: These patients have a high absolute risk of recurrence. The risk is increasedafter a first spontaneous event, and by concomitance of otherthrombophilic defects.

  16. What are annualised recurrence rates for unselected patients with AT, PC, PS deficiency and homozygotes and compound heterozygotes of FVL/F2G20210A ? Trevor Baglin, Joseph Emmerich, Clive Kearon, Gualtiero Palareti, Paolo Prandoni, Sam Schulman

  17. AT, PC, PS deficiency, all patients n = 223 recurrence by deficiency PS Annualised recurrence rates recurr follow up AT 16/46 (35%) 150 pt-yrs 10.7%(6.2 – 16.7) PC 21/75 (28%) 321 pt-yrs 6.6%(4.1 – 9.9) PS 25/102 (25%) 286 pt-yrs 8.7%(5.7 – 12.6) AT PC p = ns

  18. FVL & F2G20210A, all patients n = 80 recurrence by defect Annualised recurrence rates recurr follow up FVL/ 10/23 (43%) 90 pt-yrs FVL11.1%(5.5 – 19.5) FVL/ 12/45 (27%) 176 pt-yrs F26.8%(3.6 – 11.6) F2/ 3/12 (25%) 55 pt-yrs F25.5%(1.1 – 15.1) FVL hom FVLF2 comp F2 hom p = ns

  19. May results of Thrombophilia Screening influence the duration of anticoagulation? An indefinite anticoagulation can be suggested in carriers of AT, PC, PS deficiency or combined defects whose 1st event was idiopathic

  20. May Thrombophilia Screening be useful in particular groups of patients? Examples: Women with 1st VTE during pregnancy Children with 1st VTE

  21. Does thrombophilia screeninghelp us manage patientswith a history of VTE during pregnancy? AmericanCollege of Obstetricians and Gynecologists Int J GynaecolObstet 2001;75:203-12.

  22. Pregnant subjects with previous VTE(ACOG 2001) Pregnant patients with a historyof thrombosisfoundto be antithrombin III deficient, homozygousfor the factor V Leiden mutationor prothrombin G20210A mutation,or heterozygous for both mutations should be given therapeuticanticoagulation for the duration of theirpregnancy and in the postpartum period. All other patientsare candidates for prophylactic anticoagulationin the antepartum andpostpartum period.

  23. ..compared with children with the FV mutation or no thrombophilia, children with the FII variant are at increased risk for recurrent VTE. This may have significantimplications on outcome and possibly treatment modalities.

  24. May results of Thrombophilia Screening of a pt with DVT be useful for relatives? Yes, for asymptomatic carriers To reduce exposition to other risk factors To offer appropriate prophylaxis in high-risk situations

  25. Synergic effect of some risk factors

  26. Testing for inherited thrombophilia does not reduce therecurrence of venous thrombosis Coppens et al., J Thromb Haemost 2008; 6: 1474–7 Hypothesis: Positive results may influence patientmanagement such as:- prolonged anticoagulant treatmentor - intensified prophylaxis in high-risk situations. Results: TheOR for recurrence was 1.2 [95% CI 0.9-1.8] for tested vs. non-tested patients.

  27. Anxiety significantly(p≤0.05) decreased in the altered group and a non-significantimprovement in perceived health status after TS result communicationwas recorded in both altered and normal result subjects

  28. (from Mazzolai, EJVES 2007)

  29. Final comments: Thrombophilia screening in pts with DVT • No influence on initial treatment • Risk of recurrence • Prolonged duration of anticoagulation in very high-risk subjects • Possible information on selected groups (women/pregnancy; children) • Useful for relatives, but only if associated with appropriate counseling

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