Paper short abstract:

Les dernières avancées scientifiques mettent dans le désarroi les familles à risque de thromboses veineuses idiopathiques a qui le statut génique avait été annoncé. Elles sélectionnent les qualités manifestes du sang en lien avec l'identité qu'elles se reconnaissent comme marqueur du risque.

Paper long abstract:

Embolism as a consequence of deep vein thrombosis is a major public health issue. Some episodes of embolism occur without apparent cause, spurring research in the 1990s that revealed mutations in the genes that code for two coagulation factors. In these cases first-degree relatives of the patient are at risk and should take preventive measures. It was later shown, however, that a complex clinical reasoning, taking into account the patient's age at the time of the embolism episode, and the frequency of embolism in the family, was a better tool for risk prediction (FIT study, Couturaud et al., 2006). We have worked on management of this risk in families that took part in clinical studies. Informed of the presence or absence of genetic mutations, this scientific progress is at best a source of dismay for the families, when they do not simply deny the risk. Families rely on common representations of blood and its good or bad circulation, and on notions of cardiovascular disease, without always differentiating clearly between arteries and veins. Furthermore, as in our culture blood is classically held to be the vehicle for transmission of character traits, and metaphorically of identity, we observe interferences with lay representations of genetics. In this study the manifest qualities of blood and the vascular system are retained as risk markers, as far as transmission is concerned. Selection of these markers takes into account the identity that the patient recognises, and hence of the relationship with family members.