title: Deep vein thrombosis during enoxaparin prophylactic treatment in a young pregnant woman homozygous for factor V Leiden and heterozygous for the G127-->a mutation in the thrombomodulin gene.
abstract: Variability of thrombotic disease among individuals homozygous for factor V Leiden has been described. It has been shown that some thrombotic patients carry an additional genetic risk factor such as protein C, protein S, antithrombin deficiency or the G20210A mutation on the prothrombin gene. The occurrence of a deep vein thrombosis during enoxaparin prophylactic treatment in a pregnant woman homozygous for factor V Leiden, without other known prothrombotic genetic factors, led us to investigate her thrombomodulin gene. We found that the patient was heterozygous for the previously described G127-->A mutation, which results in an Ala25-->Thr substitution. Furthermore, for this patient, the allelic combination at the 1418 polymorphic site was C/T, which predicts an Ala455-->Val replacement. Although larger studies are required, this case report suggests that thrombomodulin gene mutations could be an additional genetic risk factor for thrombosis in carriers of the factor V Leiden mutation.
authors.affiliation: Laboratoire d'Hématologie, H pital Tenon, Paris, France. anne.magdelaine@tnn.ap-hop-paris.fr
authors.forename: A
authors.initials: A
authors.lastname: Magdelaine
authors.forename: E
authors.initials: E
authors.lastname: Verdy
authors.forename: F
authors.initials: F
authors.lastname: Coulet
authors.forename: N
authors.initials: N
authors.lastname: Berkane
authors.forename: R
authors.initials: R
authors.lastname: Girot
authors.forename: S
authors.initials: S
authors.lastname: Uzan
authors.forename: F
authors.initials: F
authors.lastname: Soubrier
mesh_terms: D000328:Adult; D000925:Anticoagulants / Q000009:adverse effects*; D017984:Enoxaparin / Q000008:administration & dosage / Q000009:adverse effects*; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D017354:Point Mutation; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000517:prevention & control*; D018180:Thrombomodulin / Q000235:genetics*; D013924:Thrombophlebitis / Q000139:chemically induced / Q000235:genetics
chemical_list: D000925:Anticoagulants; D017984:Enoxaparin; D018180:Thrombomodulin; C095381:factor V Leiden; D005165:Factor V