Relationship between the Matrix Metalloproteinases and the Occurrence of Central Nervous System Bleeding in Factor XIII Deficiency

Matrix Metalloproteinase (MMP) has a crucial role in degradation of basal membrane, tissue remodeling and has a possible role in occurrence of CNS bleeding. Factor XIII deficiency is an extremely rare bleeding disorder with estimated incidence of 1 per 2 million. Since CNS bleeding is the main cause of death among these patients, this study aimed to assess to role of MMP 9 and MMP- 2 in occurrence of CNS bleeding in Factor XIII deficiency. In this case –control study gene expression of MMP-9 and MMP-2 by Q -Real time RTPCR assays in 42 patients with factor XIII deficiency that was divided in two groups of case (With CNS bleeding) and control (Without CNS bleeding) was determined. Gene expression was compare with comparison method (2–ΔΔcCt) and GAPDH was used as standardization of gene expression. Cord bleeding was the most common bleeding episodes among all patients. Overexpression of MMP-9 was observed among 13 patients in case group (72.2) and 3 patients in control group (12.5%) that was a statistically significant difference (P = 0.001 %CI 2.8 to 95.3). Patients with factor XIII deficiency have a wide spectrum of clinical presentations that has a crucial role in screening and diagnosis of these patients. According to results of this study, overexpression of mmp-9 due to polymorphism or inflammation had a role in pathogenesis of CNS bleeding. Inhibition of MMP-9 may a role in decrease of rate of morbidity and mortality among patients with factor XIII deficiency.