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The value of screening for asymptomatic relatives of an index patient affected by symptomatic hereditary thrombophilia Volume 30, issue 1, January-February 2018

Authors
1 Hôpital Pasteur, Service de médecine interne, 68000 Colmar, France
2 Hôpital Civil – Hôpitaux universitaires de Strasbourg, Clinique médicale B, Service de médecine interne, diabète et maladies métaboliques, 1, porte de l’Hôpital, 67091 Strasbourg Cedex, France
* Tirés à part
  • Key words: venous thromboembolism, hereditary thrombophilia, screening, thromboprophylaxia
  • DOI : 10.1684/stv.2017.0995
  • Page(s) : 8-20
  • Published in: 2018

Venous thromboembolism is relatively frequent and is the cause of significant morbi-mortality. This raises the question of screening for hereditary thrombophilia, particularly since potential preventative methods exist. However, this issue remains controversial and under debate in relation to asymptomatic relatives of an index patient affected by symptomatic hereditary thrombophilia. Current recommendations are based on little evidence. In theory, this screening could lead to a reduction in the number of venous thromboembolism cases, as long as thromboprophylaxis is practised. However, in this population, the benefits in terms of mortality have not yet been clearly established, and thromboprophylaxis exposes the patient to a risk of haemorrhage when anti-aggregants and/or anti-coagulants are used. In this context, the availability of direct oral anti-coagulants may perhaps challenge the situation, and in any case, will lead to further research. This should also lead to a re-evaluation of this issue with regards to factual evidence (prospective studies).