Hereditary factor XIII deficiency in children: diagnostic and clinical features and clinical experience with replacement therapy

Factor XIII deficiency is an extremely rare bleeding disorder with a prevalence of 1 in 2–3 millions. This deficiency is characterized by severe bleeding manifestations: life-threatening bleeding, including recurrent bleeding into the central nervous system. Here, we report 16 cases of factor XIII deficiency in children who were under our observation at the beginning of 2025. The use of factor XIII concentrate is a global standard for the treatment of patients with factor XIII deficiency. Since 2023, children with confirmed hereditary factor XIII deficiency have been receiving this concentrate with the help of the Circle of Kindness Foundation. By the time of publication, 9 out of 12 children who had been prescribed treatment with factor XIII concentrate started to receive it. All the patients receiving this therapy do not have spontaneous bleeding. In this article, we describe clinical and phenotypical features as well as bleeding manifestations in the patients with factor XIII deficiency and present our experience with factor XIII concentrate therapy. Ethical approval was not required since the study involved the use of anonymized retrospective data obtained during routine clinical practice.