Multifactorial hypercoagulable state associated with a thrombotic phenotype in phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG): Case report and brief review of the literature

Bertrand Lefrère; Alain Stepanian; Perrine Charles; Geoffrey Foulon-Pinto; Nicolas Béranger; Martine Alhenc-Gelas; Ludovic Drouet; Virginie Siguret

doi:10.1016/j.thromres.2019.04.010

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Multifactorial hypercoagulable state associated with a thrombotic phenotype in phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG): Case report and brief review of the literature

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Multifactorial hypercoagulable state associated with a thrombotic phenotype in phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG): Case report and brief review of the literature

Bertrand Lefrère, Alain Stepanian, Perrine Charles, Geoffrey Foulon-Pinto, Nicolas Béranger, Martine Alhenc-Gelas, Ludovic Drouet et Virginie Siguret

Thrombosis research, Vol.178, pp.75-78

06/2019

DOI: https://doi.org/10.1016/j.thromres.2019.04.010

PMID: 30991241

Résumé

CDG

Deep venous thrombosis

Fibrinography

Thrombin generation

von Willebrand factor

•Among PMM2-CDG patients, deep venous thrombosis of the lower limb is uncommon.•Thrombinography and fibrinography results evidenced here a prothrombotic phenotype.•An increased proportion of intermediate/high MM of VWF multimers was observed.•Considering AT deficiency in PMM2-CDG, DOAC can be an attractive treatment option.

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Titre: Multifactorial hypercoagulable state associated with a thrombotic phenotype in phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG): Case report and brief review of the literature
Créateurs - sans rôle: Bertrand Lefrère - Service d'hématologie biologique, Hôpital Lariboisière, AP-HP, Paris, France
Alain Stepanian - Assistance Publique – Hôpitaux de Paris
Perrine Charles - Assistance Publique – Hôpitaux de Paris
Geoffrey Foulon-Pinto - Service d'hématologie biologique, Hôpital Lariboisière, AP-HP, Paris, France
Nicolas Béranger - Service d'hématologie biologique, Hôpital Lariboisière, AP-HP, Paris, France
Martine Alhenc-Gelas - Service d'hématologie biologique, Hôpital Européen Georges Pompidou, AP-HP, Paris, France
Ludovic Drouet - Assistance Publique – Hôpitaux de Paris
Virginie Siguret - Service d'hématologie biologique, Hôpital Lariboisière, AP-HP, Paris, France
Détails de publication: Thrombosis research, Vol.178, pp.75-78
Éditeur: Elsevier Ltd
Nombre de pages: 4
Identifiants: 99148830009311
Unité académique: Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Langue: English
Type de ressource: Journal article