Aspectos diagnósticos, fenotipo y tratamiento de la deficiencia de FXI

The bleeding disorder in patients with factor XI deficiency has presented practical and conceptual challenges for clinicians and basic scientists.In FXI deficient patients, the most frequent symptoms are menorrhagia and epistaxis, while severespontaneous hemorrhage is rare. However, current diagnostic tests can not accurately predict bleeding trends in patients with FXI deficiency, since the symptoms are highly variable among patients and are poorly correlated with plasma FXI levels.The objective of this study was to perform a retrospective study of 14 patients with FXI deficiencywho attended the Hematology Service of the British Hospital of Buenos Aires between 2007 and 2019.Fourteen patients who attended the Hematology Service with prolonged APTT or bleeding were studiedThe mean age was 52 years. The average of FXI levels in the patients was 31%. Five patients were studied for their personal bleeding history (FXI level between 0.1% and 48%) and nine patients were diagnosed during the pre-surgical examination. The main reason for medical consultation was for scheduled surgery.The mean of the APTT was 54 seconds (range: 40-90). All presented correction with normal pool. Five patients with severe FXI deficiency (<15%) showed an APTT between 54 and 90 seconds (mean 70.8).In this group of patients, we found patients with severe FXI deficiency who did not bled (FXI level <15%) and patients with mild deficiencies who bled. This discrepancy observed between the level of FXI and the clinical manifestations agrees with that reported in the literature.Due to the lack of an easily accessible test, which discriminates against patients at risk of bleeding from those who do not, all patients with FXI levels of less than 40% received treatment before any surgical procedure.