{Reference Type}: Multicenter Study
{Title}: Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
{Author}: Wicker C;Roux CJ;Goujon L;de Feraudy Y;Hully M;Brassier A;Bérat CM;Chemaly N;Wiedemann A;Damaj L;Abi-Warde MT;Dobbelaere D;Roubertie A;Cano A;Arion A;Kaminska A;Da Costa S;Bruneel A;Vuillaumier-Barrot S;Boddaert N;Pascreau T;Borgel D;Kossorotoff M;Harroche A;de Lonlay P;
{Journal}: Mol Genet Metab
{Volume}: 140
{Issue}: 3
{Year}: 2023 11 31
{Factor}: 4.204
{DOI}: 10.1016/j.ymgme.2023.107674
{Abstract}: Patients with PMM2-CDG develop acute events (stroke-like episodes (SLEs), thromboses, haemorrhages, seizures, migraines) associated with both clotting factors (factor XI) and coagulation inhibitors (antithrombin, protein C and protein S) deficiencies. The aim of the study was to correlate acute events to haemostasis and propose practical guidelines.<BR>In this multicentric retrospective study, we evaluated clinical, radiological, haemostasis and electroencephalography data for PMM2-CDG patients hospitalized for acute events. Cerebral events were classified as thrombosis, haemorrhage, SLE, or "stroke mimic" (SM: normal brain imaging or evoking a migraine).<BR>Thirteen patients had a total of 31 acute episodes: 27 cerebral events with 7 SLEs, 4 venous thromboses, 4 haemorrhages (3 associated with thrombosis), 15 SMs at a mean age of 7.7 years; 4 non-cerebral thromboses, one of which included bleeding. A trigger was frequently involved (infection, head trauma). Although sometimes normal at baseline state, factor XI, antithrombin and protein C levels decreased during these episodes. No correlation between haemostasis anomalies and type of acute event was found.<BR>Acute events in PMM2-CDG are not negligible and are associated with haemostasis anomalies. An emergency protocol is proposed for their prevention and treatment (https://www.filiere-g2m.fr/urgences). For cerebral events, brain Magnetic Resonance Imaging with perfusion weight imaging and diffusion sequences, electroencephalogram and haemostasis protein levels guide the treatment: anticoagulation, antithrombin or fresh frozen plasma supplementation, antiepileptic therapy. Preventing bleeding and thrombosis is required in cases of surgery, prolonged immobilization, hormone replacement therapy.<BR>Acute events in PMM2-CDG are associated with abnormal haemostasis, requiring practical guidance.