[Deep venous thrombosis treated by rivaroxaban in a young patient with type Ia carbohydrate-deficient glycoprotein (CDG) syndrome]. / Thrombose veineuse profonde traitée par rivaroxaban chez une jeune patiente atteinte de carbohydrate-deficient glycoprotein syndrome de type Ia.
Ann Biol Clin (Paris)
; 76(2): 217-223, 2018 04 01.
Article
en Fr
| MEDLINE
| ID: mdl-29623892
ABSTRACT
Congenital disorders of glycosylation (CDG) are rare inborn diseases of glycan component of N-glycosylated proteins. We report here the case of a 28-year-old patient with CDG syndrome type Ia, who presented with a deep venous thrombosis in the left suro-popliteal vein with no known triggers or antecedents. The patient was treated with rivaroxaban for six months. Blood tests performed after discontinuing anticoagulant treatment showed multiple abnormalities affecting the proteins involved in haemostasis (both coagulation factors and inhibitors), i.e. a combined factor XI, antithrombin and protein C deficiency (35%, 41%, and 42% respectively) associated with a moderate increase of FVIII (179%) and VWFAg (163%) without inflammation. Patient results are here discussed with regard to the limited number of articles addressing haemostasis in this rare disease, as the occurrence of deep venous thrombosis remains uncommon in the literature.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Fosfotransferasas (Fosfomutasas)
/
Trastornos Congénitos de Glicosilación
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Trombosis de la Vena
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Rivaroxabán
Límite:
Adult
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Female
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Humans
Idioma:
Fr
Año:
2018
Tipo del documento:
Article