Abstract Number: PB2228
Meeting: ISTH 2020 Congress
Theme: Venous Thromboembolism and Cardioembolism » Thrombophilia
Background: Inherited thrombophilias are well-established predisposing factors for venous thromboembolism. However, their role in arterial thombosis (AT) remains uncertain. Nevertheless, many patients with AT undergo thombophilia testing (TT), even though there is a lack of evidence regarding how a positive test result should influence treatment.
Aims: To describe the experience regarding TT in the setting of AT in our center and to asses whether this test affects clinical management of these patients.
Methods: In this retrospective observational single-center study, we reviewed consecutive patients who underwent TT ordered due to an AT over 2019 in our center.
Data was analyzed with IBM SPSS software, version 24. Results are expressed as counts and percentages for categorical data and as median for continous variables.
Results: A total of 70 patients were included, with a median age of 53 years. Most patients were young or middle-aged (less than 65 years), althought some older patients (n=5) were included in selected cases without classic cardiovascular factors and with a positive family history. 81% of the TT were ordered due to a stroke or transient ischemic attack. Baseline characteristics of the patients are summarized in table 1.
We found 2 patients with a prothrombin heterozygous gene mutation, 2 with a Factor V Leiden heterozygous mutation and 17 with a single positive test for antiphospholipid syndrome (APS) (either lupus anticoagulant or antiphospholipid antibodies), although most were not confirmed (Table 2).
Of the 21 (30%) patients with, at least, one positive test result, clinical management was altered in a significant way in only 2 patients (both changed to long-term anticoagulation for APS).
Conclusions: Our findings are consistent with previous studies and suggest current testing practices at our center are not clinically helpful, as there is a low likelihood of changes in therapy influenced by the results of TT (excluding APS).
Sex | Male: 62.9% (n=44); female: 37.1% (n=26) |
Age | Median= 53 (IQR: 44-59) |
Family history | None: 45.7% (n=32): Arterial thrombosis: 38.6% (n=27); venous thrombosis: 4.3% (n=3); both arterial and venous thrombosis: 4.3% (n=3) |
Cardiovascular risk factors (CVRF) | None: 28.6% (n=20). One CVRF: 35.71% (n=25); two: 25.71%; three: 5.71%; four: 4.28%. Smoking (current or past): 50% (n=35) Dyslipidemia: 25.71% (n=18) Hypertension: 15.71% (n=11) Diabetes mellitus: 14.28% (n=10) Obesity: 10% (n=7) Others: 5.7% (n=4) |
Thrombotic history | Stroke: 85.7% (n=60); myocardial infarction: 10%; venous thrombosis: 11.4%; recurrent arterial events: 15.7% (n=11); recurrent venous events: 4.3% (n=3) |
[Table 1: Baseline characteristics of the patients]
Test | Positive result | Negative result | Missing |
Protein C | 0 | 68 | 2 |
Protein S | 0 | 68 | 2 |
Antithrombin | 0 | 69 | 1 |
Factor V Leiden mutation | 2 (both heterozygous) | 67 | 1 |
Prothrombin G20210A mutation | 2 (both heterozygous) | 67 | 1 |
Lupus anticoagulant/ antiphospholipid antibodies | 17 | 51 | 2 |
[Table 2: Thrombophilia testing results:]
To cite this abstract in AMA style:
Méndez Navarro GA. Thrombophilia Testing in Patients with Arterial Thrombosis in Routine Clinical Practice [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/thrombophilia-testing-in-patients-with-arterial-thrombosis-in-routine-clinical-practice/. Accessed May 13, 2024.« Back to ISTH 2020 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/thrombophilia-testing-in-patients-with-arterial-thrombosis-in-routine-clinical-practice/