title: Bleeding phenotype and correlation with factor XI (FXI) activity in congenital FXI deficiency: results of a retrospective study from a single centre.
abstract: Bleeding phenotype in factor XI (FXI)-deficient patients is variable, and not related to baseline FXI:Act. Aims of our study were to describe the characteristics and the management of surgery and deliveries in FXI-deficient patients, and to investigate the relationship between the haemorrhagic phenotype and the baseline FXI:Act. Ninety-five patients were diagnosed and followed in our centre for a median follow-up of 0.9 years (0.1-36.2); median FXI:Act of all patients: 38% (0.5-69%). Fifty-six patients (59%) experienced bleeding episodes not surgery-related. Prior to diagnosis, 64 patients underwent 132 surgeries, and after diagnosis, 23 patients underwent 36 surgeries. Globally 26 of 168 surgeries were prophylactically treated, whereas 142 of 168 were not. As regard as surgeries performed without prophylaxis, 30 bleeding events (21%) occurred in 21 patients. At diagnosis, the median FXI:Act of bleeding and non-bleeding patients was 28% and 37%, respectively, without statistically significant difference between the two groups (P = 0.26). As regard as surgeries performed under prophylactic treatment just 1 bleeding event occurred. Prior to diagnosis, 31 spontaneous deliveries (SD) and eight caesarian sections (CS) were performed without prophylaxis: 4 postpartum haemorrhages (10.5%) occurred (patients FXI:Act: 2%, 6%, 27%, 52.3% respectively). After diagnosis, four SD and five CS were performed with prophylaxis: no postpartum haemorrhages occurred. We confirm the wide bleeding phenotype variability in FXI-deficient patients, not related to the baseline FXI:Act levels. We highlight the importance of performing a correct diagnosis and follow-up, because a good management of prophylactic treatment, dramatically reduces the bleeding rate in case of surgery or deliveries.
authors.affiliation: Division of Hematology, Department of Cellular Biotechnologies and Hematology, "Sapienza" University of Rome, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Santoro
authors.affiliation: Division of Hematology, Department of Cellular Biotechnologies and Hematology, "Sapienza" University of Rome, Rome, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Di Mauro
authors.affiliation: Division of Hematology, Department of Cellular Biotechnologies and Hematology, "Sapienza" University of Rome, Rome, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Baldacci
authors.affiliation: Division of Hematology, Department of Cellular Biotechnologies and Hematology, "Sapienza" University of Rome, Rome, Italy.
authors.forename: F
authors.initials: F
authors.lastname: De Angelis
authors.affiliation: Division of Hematology, Department of Cellular Biotechnologies and Hematology, "Sapienza" University of Rome, Rome, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Abbruzzese
authors.affiliation: Division of Hematology, Department of Cellular Biotechnologies and Hematology, "Sapienza" University of Rome, Rome, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Barone
authors.affiliation: Division of Hematology, Department of Cellular Biotechnologies and Hematology, "Sapienza" University of Rome, Rome, Italy.
authors.forename: R A
authors.initials: RA
authors.lastname: Bochicchio
authors.affiliation: Division of Hematology, Department of Cellular Biotechnologies and Hematology, "Sapienza" University of Rome, Rome, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Ferrara
authors.affiliation: Division of Hematology, Department of Cellular Biotechnologies and Hematology, "Sapienza" University of Rome, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Guarini
authors.affiliation: Division of Hematology, Department of Cellular Biotechnologies and Hematology, "Sapienza" University of Rome, Rome, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Foà
authors.affiliation: Division of Hematology, Department of Cellular Biotechnologies and Hematology, "Sapienza" University of Rome, Rome, Italy.
authors.forename: M G
authors.initials: MG
authors.lastname: Mazzucconi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016063:Blood Loss, Surgical / Q000517:prevention & control; D002585:Cesarean Section; D002648:Child; D002675:Child, Preschool; D005172:Factor XI / Q000627:therapeutic use*; D005173:Factor XI Deficiency / Q000188:drug therapy*; D005260:Female; D006488:Hemostasis, Surgical; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D006473:Postpartum Hemorrhage / Q000517:prevention & control; D011247:Pregnancy; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D005172:Factor XI
keywords: disease management; factor XI; factor XI deficiency; haemorrhage; hereditary coagulation disorders; surgical procedures