Laboratory and Clinical Analysis of Rare Coagulation Factor Deficiencies-A Respective Study of a Single Center from Northwest China.

ObjectiveRare coagulation factor deficiencies (RCFDs) is a disease characterized by heterogeneous clinical manifestations and low prevalence. This study aimed to thoroughly analyze the clinical characteristics, routine laboratory results, and perioperative treatment plans of patients with RCFDs, enabling clinicians and laboratory professionals to manage these patients effectively.MethodsDemographic data, laboratory diagnoses, clinical symptoms, bleeding symptoms, perioperative treatment regimens, and outcomes of patients diagnosed with RCFDs (including fibrinogen (FI), FV, FVII, FX, and FXI) were collected and analyzed from 2020 to 2024 at the first affiliated hospital of Xi' an Jiaotong university.ResultsA total of 60 patients were diagnosed with RCFDs (male: female = 0.62: 1), aged from 1 year to 73 years. 9 patients were diagnosed with FXII deficiency. Fibrinogen disorders were the most common deficient factor (35, 58.3%), in which dysfibrinogenemia accounted for 20 cases, followed by FXI deficiency (10, 16.7%) and FVII deficiency (8, 13.7%). 63 patients (91.3%) had no prior bleeding tendencies, while 6 patients (8.7%) exhibited mucocutaneous bleeding symptom. Fresh frozen plasma (FFP), and fibrinogen concentrate are the main preoperative alternative therapy. Nearly 100% patients with dysfibrinogenemia and hypo-dysfibrinogenemia displayed prolonged TT and normal thromboelastometry parameters. Most of them were asymptomatic, but they may have postoperative bleeding manifestations.ConclusionThe clinical manifestations of RCFDs are highly heterogeneous. It is difficult to judge the bleeding risk by coagulation factors activity in RCFDs. Fibrinogen disorders account for the highest proportion among all RCFDs. Patients with dysfibrinogenemia and hypo-dysfibrinogenemia may experience postoperative hemorrhage or thrombosis.