title: Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.
abstract: The congenital disorder of glycosylation type Ia (CDG-Ia) presents a broad clinical spectrum. Some patients suffer from acute vascular events (thrombosis and bleeding) and stroke-like events. No correlations have been made between the marked hemostasis abnormalities of CDG-Ia and the occurrence of acute vascular events. We report on 6 patients with CDG-Ia presenting vascular events, then we analyze the clinical and hemostasis data of 39 CDG-Ia patients described in the literature, 17 with vascular events (E) and 21 unscathed from any event (EF), to determine the risk factors for acute vascular events in CDG-Ia. Acute vascular events occurred in patients younger than 15 years, especially with fever and prolonged immobilization. Hemostasis and liver cytolysis were statistically abnormal in patients younger than 5 years whatever the occurrence of vascular events and they normalized with time. Higher factors VIII and IX activities were statistically observed in the E cluster (p=0.03) compared to the EF cluster. The activity/antigenicity ratio for protein C (p=0.02) was also higher in the E group. CDG-Ia patients younger than 15 years old are at risk of acute vascular events. The paradoxical results-abnormal VIII and IX factors in EF patients and normal results in E patients, while XI, antithrombin, protein C, ASAT and ALAT are abnormal in both groups, could suggest a disequilibrium between prothrombotic and antithrombotic factors in the E group. Vascular events may also occur in patients where glycoproteins are proportionally more hypoglycosylated, particularly protein C.
authors: Metabolic unit, Department of Paediatrics, Hospital Necker-Enfants Malades, Paris, France. jeanbaptiste.arnoux@free.fr
authors: J B
authors: JB
authors: Arnoux
authors: N
authors: N
authors: Boddaert
authors: V
authors: V
authors: Valayannopoulos
authors: S
authors: S
authors: Romano
authors: N
authors: N
authors: Bahi-Buisson
authors: I
authors: I
authors: Desguerre
authors: Y
authors: Y
authors: de Keyzer
authors: A
authors: A
authors: Munnich
authors: F
authors: F
authors: Brunelle
authors: N
authors: N
authors: Seta
authors: M D
authors: MD
authors: Dautzenberg
authors: P
authors: P
authors: de Lonlay
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000150:complications*; D005260:Female; D006031:Glycosylation; D006487:Hemostasis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency / Q000235:genetics*; D018570:Risk Assessment; D020521:Stroke / Q000209:etiology*; D013927:Thrombosis / Q000209:etiology
chemical_list: D017875:Phosphotransferases (Phosphomutases); C519582:phosphomannomutase 2, human