Original article

Blood Transfusion - 3 2021 (May-June)

Thrombophilia testing in the real-world clinical setting of thrombosis centres taking part in the Italian Start 2-Register


Key words: thrombophilia, recurrent events, bleeding, anticoagulant therapy, venous thromboembolism
Publication Date: 2021-01-27


Background - Even though it rarely influences venous thromboembolism (VTE) treatment and the fact that it is generally discouraged, thrombophilia testing is still largely prescribed. We assessed: 1) whether/how frequently Italian thrombosis centres requested thrombophilia testing; 2) what results were obtained; and 3) if the results affected treatment and clinical results.
Materials and methods - We examined data from 4,826 VTE patients enrolled by 19 clinical centres participating in the START 2-Register.
Results - 57.2% of patients were tested. Numbers varied widely among centres (2.9-99.7%). Thrombophilic alterations were recorded in 18.2% of patients and the percentage of positive results was inversely correlated with that of patients tested. Significantly less patients with deep vein thrombosis (DVT) were tested, whereas more were tested when the event was idiopathic, presenting as isolated pulmonary embolism (PE), or in unusual sites. Patients with thrombophilic alterations were younger, more frequently treated with direct oral anticoagulants (DOACs), with lower mortality and less frequently discontinued anticoagulation. DOACs were more frequently prescribed in patients with heterozygous Factor V (FV) Leiden or prothrombin mutations, whereas vitamin K antagonists were preferred in patients with inhibitor deficiencies, combined alterations or antiphospholipid syndrome (APLS). There was no difference in duration of treatment among those with or without alterations, though more APLS patients received an extended treatment course. Bleeding and thrombotic complications occurred with a similar and fairly low incidence in patients with or without thrombophilic alterations.
Discussion - Although general testing for thrombophilia in VTE patients is currently discouraged, more than half of the VTE patients included in the START2-Register were tested. However, there were marked differences in practice between Italian thrombosis centres. About 60% of all patients with alterations were treated with DOACs, confirming that DOACs can be a useful option for treatment of thrombophilic VTE patients, with the exclusion of those with APLS.



Cristina Legnani - Arianna Anticoagulazione Foundation, Bologna, Italy;

Gualtiero Palareti - Arianna Anticoagulazione Foundation, Bologna, Italy

Emilia Antonucci - Arianna Anticoagulazione Foundation, Bologna, Italy

Daniela Poli - SOD Malattie Aterotrombotiche, University Hospital "Careggi", Florence, Italy

Benilde Cosmi - Angiology and Blood Coagulation, University Hospital "S. Orsola-Malpighi", Bologna, Italy

Anna Falanga - Department of Immunohematology and Transfusion Medicine, “Papa Giovanni XXIII” Hospital, Bergamo, Italy

Daniela Mastroiacovo - Angiology Unit, "SS Filippo and Nicola" Hospital, Avezzano (AQ), Italy

Sophie Testa - Haemostasis and ThrombosisCentre, Hospital of Cremona, Cremona, Italy

on behalf of the START 2-Register Investigators (Appendix 1)

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