PB0234 - Comprehensive Evaluation of Coagulation and Fibrinolysis Parameters in Patients with Congenital Factor XIII Deficiency in Pakistan: Case Control Study.

Background: Congenital factor XIII (FXIII) deficiency is a rare bleeding disorder. However, this rarity makes meaningful studies with large patient numbers very difficult.

Aims: To investigate whether there are any changes in the coagulation and fibrinolytic system as a compensation mechanism of FXIII deficiency, and if any changes in the coagulation and fibrinolytic system are related to the severity of bleeding complications.

Methods: A prospective case-control study was conducted from February 2021- July 2022. The patients are not on prophylactic replacement therapy but on-demand therapy. FXIII deficiency patients with no history of recent FXIII concentrate or blood products transfusions (4weeks) and 25 healthy controls (blood donors) were included. Samples were collected after recording history and clinical details. Coagulation and fibrinolysis parameters were measured with commercial assays. Data were evaluated by using SPSS version 25.

Results: Total 42:25 cases-control participants with mean±SD age 15.66±10.2 vs 26.88±8.7 years were included in the study, among patients 26 were males and 23 females. Positive family history was reported in 30(71.4%) patients while 1st cousin marriage was predictable in 32(76.2%) cases. All patients presented with bleeding symptoms, Figure 1. Cases were further evaluated with aspect of genotype state which showed mutations all in homozygous state. Case-controls were further assessed for laboratory parameters, Table 1. However, in the control group all the participants showed a mild undiagnosed FXIII deficiency.

Conclusion(s): This study shows that majority of the cases have moderate to severe FXIII deficiencies with frequent bleeding symptoms. Overall coagulation and fibrinolysis parameters in patients with congenital FXIII deficiency are similar to healthy controls. It remains to check if individual constellations may explain individual risk for bleeding complications. Also, the finding of reduced FXIII levels in healthy controls is unexpected and suggests the high prevalence of mutations in the general population, but this would need to be confirmed by genetic analysis.