Impact of thrombophilia on venous thromboembolism management.

Menno Huisman, Joseph Emmerich, Isabelle Gouin-Thibault, Stéphane Zuily, Pierre-Emmanuel Morange, Francis Couturaud

Journal: Presse medicale (Paris, France : 1983) 2024;53(4):104247

PMID: 39244017

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Abstract

Hypercoagulable states, also called thrombophilia, can either be congenital or acquired. Congenital thrombophilia, associated mainly with venous thrombosis, is either secondary to coagulation-inhibitor deficiencies, i.e., antithrombin, protein C and Protein S, or gain of function mutations, i.e., factor V Leiden and prothrombin G20210A mutations. Despite the relative frequency of these two mutations, they have not been associated with venous thrombosis recurrence. Most prevalent thrombophilia have a limited impact and usually does not change indications for duration of antithrombotic treatment or prophylaxis compared to decisions based on clinical factors. However, rare inherited thrombophilia such as antithrombin deficiency could justify a long-term anticoagulation. The main acquired thrombophilia, the Antiphospholipid syndrome (APS), is associated with both arterial and venous thrombosis. Its impact on patient management is significant: choice of the anticoagulant (DOAC vs. warfarin), duration of anticoagulation, screening of any organ involvement and systemic autoimmune disease, introduction of immunosuppressive therapy.

Address: Department of Vascular Medicine, Paris Saint-Joseph Hospital Group, University of Paris, 75014 Paris, France; INSERM CRESS UMR 1153, F-75005 Paris, France; FCRIN INNOVTE network, Saint-Etienne, France. Electronic address: [email protected].; FCRIN INNOVTE network, Saint-Etienne, France; Vascular Medicine Division, Université de Lorraine, CHRU-Nancy, Rare Vascular and Systemic Autoimmune Diseases Regional Referral Center, France; Inserm, UMR 1116 DCAC, F-54000 Nancy, France.; Vascular Medicine Division, Université de Lorraine, CHRU-Nancy, Rare Vascular and Systemic Autoimmune Diseases Regional Referral Center, France; Department of Laboratory Hematology, Pontchaillou University Hospital of Rennes, Rennes, France; Institut de Recherche en Santé, Environnement et Travail (IRSET)-Institut National de la Santé et de la Recherche Médicale (INSERM)-1085, University of Rennes, Rennes, France.; Vascular Medicine Division, Université de Lorraine, CHRU-Nancy, Rare Vascular and Systemic Autoimmune Diseases Regional Referral Center, France; Aix-Marseille University, INSERM, INRAE, Centre de Recherche en CardioVasculaire et Nutrition, Laboratory of Haematology, CRB Assistance Publique - Hôpitaux de Marseille, Marseille, France.; Vascular Medicine Division, Université de Lorraine, CHRU-Nancy, Rare Vascular and Systemic Autoimmune Diseases Regional Referral Center, France; CHU Brest, Département de Médecine Interne et Pneumologie, Brest, France; Univ_Brest, INSERM U1304-GETBO, CIC INSERM 1412, F29609 Brest, France.; Department of Medicine - Thrombosis and Hemostasis, Leiden University Medical Center, Leiden, the Netherlands.

DOI: 10.1016/j.lpm.2024.104247