Portal vein thrombosis as a manifestation of a factor XII mutation

Abdominal venous thrombosis is a rare form of venous thromboembolic disease in children. Although the associated mortality is low, a significant proportion of affected children suffer from long-term morbidity. Among its aetiologies, there is evidence of an association with prothrombotic disorders, absence of factor XII being an infrequent one. Treatment includes anticoagulant medication and surgical resection of the ischaemic organs, potentially followed by transplantation.