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

•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 att...

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Bibliographic Details
Published in:Thrombosis research 2019-06, Vol.178, p.75-78
Main Authors: Lefrère, Bertrand, Stepanian, Alain, Charles, Perrine, Foulon-Pinto, Geoffrey, Béranger, Nicolas, Alhenc-Gelas, Martine, Drouet, Ludovic, Siguret, Virginie
Format: Article
Language:English
Subjects:
Adult
CDG
Congenital Disorders of Glycosylation - genetics
Deep venous thrombosis
Female
Fibrinography
Humans
Life Sciences
Phenotype
Phosphotransferases (Phosphomutases) - metabolism
Thrombin generation
Thrombosis - genetics
von Willebrand factor
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Summary:•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.
ISSN:0049-3848
1879-2472
DOI:10.1016/j.thromres.2019.04.010