Psychological impact of testing for thrombophilic alterations

Cristina Legnani; Elisabetta Razzaboni; Paola Gremigni; Pio Enrico Ricci Bitti; Elisabetta Favaretto; Gualtiero Palareti

doi:10.1160/TH06-01-0015

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2006; 96(03): 348-355
DOI: 10.1160/TH06-01-0015

Blood Coagulation, Fibrinolysis and Cellular Haemostasis

Schattauer GmbH

Psychological impact of testing for thrombophilic alterations

Authors

Cristina Legnani

¹Department of Angiology and Blood Coagulation “Marino Golinelli”, S.Orsola-Malpighi Hospital, Bologna, Italy
Elisabetta Razzaboni

²Department of Psychology; University of Bologna, Bologna, Italy
Paola Gremigni

²Department of Psychology; University of Bologna, Bologna, Italy
Pio Enrico Ricci Bitti

²Department of Psychology; University of Bologna, Bologna, Italy
Elisabetta Favaretto

¹Department of Angiology and Blood Coagulation “Marino Golinelli”, S.Orsola-Malpighi Hospital, Bologna, Italy
Gualtiero Palareti

¹Department of Angiology and Blood Coagulation “Marino Golinelli”, S.Orsola-Malpighi Hospital, Bologna, Italy

Abstract

Summary

We investigated the psychological impact of testing for the presence of thrombophilic alterations. The enrolled subjects received counseling from a physician before blood sampling and after receiving results, with a view to provide clear information about the aim of thrombophilia screening (TS). Participants were requested to completea pre-test questionnaire during this interview and a post-test questionnaire 20 days after receiving theTS results. One hundred ninety-seven subjects completed the pre-test questionnaire and 140/197 (71.1%) returned the post-test one. The TS results were altered in 36 (25.7%, R506Q mutation n=19; G20210A mutation n=9; antithrombin deficiency n=1; LAC phenomenon n=4; hyperhomocysteinemia n=3) and normal in 104 subjects. We assessed: perceived health status (PHS), state of anxiety, health fears, depressive reactions, moods, perceived well-being, and perceived daily-life stress. For both groups, both at pre- and post-test, none of the psychological variable scores showed significant worsening, regardless of whether TS resulted altered or normal. Anxiety significantly (p≤0.05) decreased at post-test in the altered group and a nonsignificant improvement in PHS after TS result communication was recorded in both groups. Age was an important factor in mediating psychological impact. In conclusion, diagnosis of thrombophilic alterations seems to be well accepted in the short term and TS should not be discouraged for potential adverse psychological effects. However, the psychological impact over a longer period of receiving altered results needs to be further investigated. The relationship between absence of adverse psychological reactions and quality of counseling program provided before and after TS should also be investigated.

Keywords

Psychological impact - thrombophilia - screening - risk factors

Full Text

References

References
1 Shaw C, Abrams K, Marteau TM. Psychological impact of predicting individuals’ risks of illness:a systematic review. Soc Sci Med 1999; 49: 1571-98.
2 Almqvist EW, Bloch M, Brinkman R. et al. A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington’s disease. Am J Hum Genet 1999; 64: 1293-304.
3 Harper PS, Lim C, Craufurd D. Ten years of presymptomatic testing for Huntington’s disease: the experience of the UK Huntington’s Disease Prediction Consortium. J Med Genet 2000; 37: 567-71.
4 Horowitz MJ, Field NP, Zanko A. et al. Psychological impact of news of genetic risk for Huntington disease. Am J Med Genet 2001; 103: 188-92.
5 Almqvist EW, Brinkmana RR, Wigginsa S. et al. Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington’s disease. Clin Genet 2003; 64: 300-9.
6 Lodder L, Frets PG, Trijsburg RW. et al. Psychological impact of receiving a BRCA1/BRCA2 test result. AmJ Med Genet 2001; 98: 15-24.
7 Power TE, Adams PC. Psychosocial impact of C282Y mutation testing for hemochromatosis. Genet Test 2001; 05: 107-10.
8 Marteau TM, Croyle RT. The new genetics. Psychological responses to genetic testing. Br Med J 1998; 316: 693-6.
9 Lodder LN, Frets PG, Trijsburg RW. et al. One year follow-up of women opting for presymptomatic testing for BRCA1 and BRCA2: emotional impact of the test outcome and decisions on risk management (surveillance or prophylactic surgery). Breast Cancer Res Treat 2002; 73: 97-112.
10 Timman R, Stijnen T, Tibben A. Methodology in longitudinal studies on psychological effects of predictive DNA testing: a review. J Med Genet 2004; 41: e100.
11 Legnani C, Palareti G, Guazzaloca G. et al. Venous thromboembolism in young women; role of thrombophilic mutations and oral contraceptive use. Eur HeartJ 2002; 23: 984-90.
12 Zotti AM, Bertolotti G, Michielin P. et al. Linee guida per lo screening di tratti di personalità, cognizioni, e comportamenti avversi alla salute. Manuale d’uso per il CBA Forma Hospital: Edizioni Fondazioni Maugeri. 2000
13 Sarasin FP, Bounameaux H. Decision analysis model of prolonged oral anticoagulant treatment in factor V Leiden carriers with first episode of deep vein thrombosis. Br Med J 1998; 316: 95-9.
14 Sanson BJ, Simioni P, Tormene D. et al. The incidence of venous thromboembolism in asymptomatic carriers of a deficiency of antithrombin, protein C, or protein S:a prospective cohort study. Blood 1999; 94: 3702-6.
15 Marchetti M, Pistorio A, Barosi G. Extended anticoagulation for prevention of recurrent venous thromboembolism in carriers of factor V Leiden - Cost-effectiveness analysis. Thromb Haemost 2000; 84: 752-7.
16 van den Belt AGM, Hutten BA, Prins MH. et al. Duration of oral anticoagulant treatment in patients with venous thromboembolism and a deficiency of antithrombin, protein C or proteinS- A decision analysis. Thromb Haemost 2000; 84: 758-63.
17 Khamashta MA, Cuadrado MJ, Mujic F. et al. The management of thrombosis in the antiphospholipidantibody syndrome. N Engl J Med 1995; 332: 993-7.
18 Ray JG, Chan WS. Deep vein thrombosis during pregnancy and the puerperium: a meta-analysis of the period of risk and the leg of presentation. Obstet Gynecol Surv 1999; 54: 265-71.
19 Martinelli I, Mannucci PM, De Stefano V. et al. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia:a study of 150 families. Blood 1998; 92: 2353-8.
20 Vossen CY, Conard J, Fontcuberta J. et al. Risk ofa first venous thrombotic event in carriers of a familial thrombophilic defect. The European Prospective Cohort on Thrombophilia (EPCOT). J Thromb Haemost 2005; 03: 459-64.
21 Middeldorp S, Henkens CMA, Koopman MMW. et al. The incidence of venous thromboembolism in family members of patients with factor V Leiden mutation and venous thrombosis. Ann Intern Med 1998; 128: 15-20.
22 Tormene D, Simioni P, Prandoni P. et al. The incidence of venous thromboembolism in thrombophilic children:a prospective cohort study. Blood 2002; 100: 2403-5.
23 Ginsberg JS, Greer I, Hirsh J. Use of antithrombotic agents during pregnancy. Chest 2001; 119: 122S-31S.
24 Martinelli I, Legnani C, Bucciarelli P. et al. Risk of pregnancy-related venous thrombosis in carriers of severe inherited thrombophilia. Thromb Haemost 2001; 86: 800-3.
25 Creinin MD, Lisman R, Strickler RC. Screening for factor V Leiden mutation before prescribing combination oral contraceptives. Fertil Steril 1999; 72: 646-51.
26 Schambeck CM, Schwender S, Haubitz I. et al. Selective screening for the factor V Leiden mutation: is it advisable prior to the prescription of oral contraceptives?. Thromb Haemost 1997; 78: 1480-3.
27 Hannaford PC, Webb AMC. Evidence-guided prescribing of combined oral contraceptives: consensus statement. Contraception 1996; 54: 125-9.
28 McPherson K. Third generation oral contraception and venous thromboembolism - the published evidence confirms the committee on safety of medicine’s concerns. Br Med J 1996; 312: 68-9.
29 Walker ID. Factor V Leiden: should all women be screened prior to commencing the contraceptive pill?. Blood Rev 1999; 13: 8-13.
30 Greaves M, Baglin T. Laboratory testing for heritable thrombophilia: Impact on clinical management of thrombotic disease. Br J Haematol 2000; 109: 699-703.
31 Martinelli I. Pros and cons of thrombophilia testing: pros. J Thromb Haemost 2003; 01: 410-1.
32 Machin SJ. Pros and cons of thrombophilia testing: cons. J Thromb Haemost 2003; 01: 412-3.
33 Van Korlaar IM, Vossen CY, Rosendaal FR. et al. Attitudes toward genetic testing for thrombophilia in asymptomatic members of a large family with heritable protein C deficiency. J Thromb Haemost 2005; 03: 2437-44.
34 Broadstock M, Michie S, Marteau TM. Psychological consequences of predictive genetic testing: a systematic review. Eur J Hum Genet 2000; 08: 731-8.