title: Bleeding symptoms at disease presentation and prediction of ensuing bleeding in inherited FVII deficiency.
abstract: Individuals with inherited factor VII (FVII) deficiency display bleeding phenotypes ranging from mild to severe, with 30% of patients having always been asymptomatic (non-bleeding). In 626 FVII-deficient individuals, by analysing data from the International Factor VII (IF7) Registry and the Seven Treatment Evaluation Registry (STER), we determined whether bleeding type at disease presentation and FVII coagulant activity (FVIIc) predict ensuing bleeds. At disease presentation/diagnosis, 272 (43.5%) individuals were non-bleeding, 277 (44.2%) had minor bleeds, and 77 (12.3%) had major bleeds. During a median nine-year index period (IP) observation, 87.9% of non-bleeding individuals at presentation remained asymptomatic, 75.1% of minor-bleeders had new minor bleeds, and 83.1% of major-bleeders experienced new major bleeds. After adjusting for FVIIc levels and other clinical and demographic variables, the relative risk (RR) for ensuing bleedings during the IP was 6.02 (p <0.001) and 5.87 (p <0.001) in individuals presenting with major and minor bleeds, respectively. Conversely, compared to non-bleeding individuals, a 10.95 (p = 0.001) and 28.21 (p <0.001) RR for major bleedings during the IP was found in those with minor and with major bleeds at presentation, respectively. In conclusion, in FVII deficiency, the first major bleeding symptom is an independent predictor of the risk of subsequent major bleeds.
authors.affiliation: Department of Clinical and Experimental Medicine, Federico II University, Naples, Via S. Pansini 5, 80131 Napoli, Italy. dario.diminno@hotmail.it
authors.forename: Matteo Nicola Dario
authors.initials: MN
authors.lastname: Di Minno
authors.forename: Alberto
authors.initials: A
authors.lastname: Dolce
authors.forename: Guglielmo
authors.initials: G
authors.lastname: Mariani
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D002986:Clinical Trials as Topic; D005167:Factor VII / Q000378:metabolism*; D005168:Factor VII Deficiency / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006470:Hemorrhage / Q000235:genetics; D006801:Humans; D007223:Infant; D007391:International Cooperation; D008297:Male; D008875:Middle Aged; D015233:Models, Statistical; D010641:Phenotype; D011786:Quality Control; D012042:Registries; D012189:Retrospective Studies; D012306:Risk; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D005167:Factor VII