Bleeding Symptoms in Pediatric Patients with Congenital FVII Deficiency and Correlation to Thrombin Generation Assay Parameters: A Single-Center Retrospective Analysis.

Inherited factor VII deficiency is the most common rare bleeding disorder, affecting about 1/500,000 individuals without gender predilection. Most of the patients with FVII 20-50% are asymptomatic, but post-traumatic or post-surgical bleeding may often occur since there is not an exact correlation between FVII plasma levels and the bleeding phenotype. We enrolled 19 children and adolescents with FVII levels of 20-35% and 33 controls. Laboratory data collected included thrombin generation, prothrombin time, activated partial thromboplastin time, fibrinogen, and FVII levels. In our study, we found a statistical difference in the lag time ratio ( < 0.01) and tt-peak ratio ( < 0.05) between patients and controls but no difference in the other parameters, such as the endogenous thrombin potential (ETP). However, when we categorized patients, regardless of their bleeding scores, as presenting symptoms and having no symptoms, both the lag time ratio ( = 0.01) and tt-peak ratio ( < 0.05) were significantly different, and the vel. index % showed increased levels in patients without symptoms ( < 0.05). This study shows that thrombin generation may be a useful tool in assessing the risk of bleeding symptoms in children with an FVII deficiency categorized in the mild category (20-35%), although we cannot predict the severity of the bleeding.