Vaskulárna medicína 1/2021

Genetic background and management in patients with factor XIII deficiency – our experience

Purpose: Congenital factor XIII deficiency is a rare disease. Generally, FXIII-deficient patients have variable bleeding tendency, from mild to severe. Bleeding from the umbilical cord stump occurs in 80-90% of newborns with severe factor XIII deficiency and is considered a diagnostic feature of the disorder. Intracranial bleeding is more frequent in factor XIII deficiency than in other inherited coagulation disorder. Delayed wound healing, reccurent spontaneous abortions and bleeding associated with delivery are observed. Case: We described 2 siblings with congenital deficiency of factor XIII. They had bled from the umbilical site during the first week of life. Some traumas required transfusion of red cell concentrate and fresh frozen plasma. We identified 2 mutations in F13 gene, each parent was identified to be heterozygous for one of these variants in F13A1 gene. Due to autosomal recessive type of inheritance, the parents are without bleeding symptoms. Affected children are compound heterozygous for both identified variants. We suppose accumulative effect of these variants. Conclusion: Diagnosis is based on quantitative FXIII activity measurement and antigen assays. Common clotting assays are in the range of reference values. The clot solubility test may also be used as screening test. Molecular testing can idetify the causal mutations of FXIII deficiency.

Keywords: factor XIII deficiency, rare bleeding disorder, genotyping