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Thromb Haemost 2011; 106(04): 646-654
DOI: 10.1160/TH11-02-0080
Blood Coagulation, Fibrinolysis and Cellular Haemostasis
Schattauer GmbH

In families with inherited thrombophilia the risk of venous thromboembolism is dependent on the clinical phenotype of the proband

Elena Rossi
1   Institute of Hematology, Catholic University, Rome, Italy
,
Angela Ciminello
1   Institute of Hematology, Catholic University, Rome, Italy
,
Tommaso Za
1   Institute of Hematology, Catholic University, Rome, Italy
,
Silvia Betti
1   Institute of Hematology, Catholic University, Rome, Italy
,
Giuseppe Leone
1   Institute of Hematology, Catholic University, Rome, Italy
,
Valerio De Stefano
1   Institute of Hematology, Catholic University, Rome, Italy
› Institutsangaben
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Publikationsverlauf

Received: 07. Februar 2011

Accepted after major revision: 08. Juli 2011

Publikationsdatum:
29. November 2017 (online)

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Summary

The utility of laboratory investigation of relatives of individuals with inherited thrombophilia is uncertain. To assess the risk of venous thromboembolism (VTE) among the carriers, we investigated a family cohort of 1,720 relatives of probands with thrombophilia who were evaluated because of VTE (n=1,088), premature arterial thrombosis (n=113), obstetric complication (n=257), or universal screening before pregnancy or hormonal contraception or therapy (n=262); 968 relatives were carriers of thrombophilia. A first deep venous thrombosis (DVT) occurred in 44 carriers and 10 non-carriers during 37,688 and 29,548 observationyears from birth, respectively. The risk of DVT among the carriers compared with non-carriers was estimated as a hazard ratio (HR). If the proband had VTE and factor V Leiden (FVL) and/or prothrombin (PT)20210A, the HR for DVT was 2.77 (95%CI 1.21–4.82) in the carriers overall, and 5.54 (95%CI 3.20–187.00) in those homozygous or double heterozygous for FVL and PT20210A. If the proband had VTE and a deficiency of antithrombin (AT), protein C or S, the HR for DVT was 5.14 (95%CI 0.88–10.03) in the carriers overall, and 12.86 (95%CI 2.46–59.90) in those with AT deficiency. No increase in risk was found among the carriers who were relatives of the probands who were evaluated for reasons other than VTE. In conclusion, familial investigation for inherited thrombophilia seems justified for probands with previous VTE, but appears of doubtful utility for the relatives of probands without VTE. This should be taken with caution regarding families with deficiency of natural anticoagulants, given the low number of cases analysed.

Keywords

Inherited thrombophilia - familial screening - risk factors - deep venous thrombosis
 

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