The burden and management of FXIII deficiency

Abstract

Factor XIII congenital deficiency (FXIII CD) is a serious bleeding disorder resulting in a lifelong bleeding tendency, defective wound healing and recurrent miscarriage. The aim of this study was to review available literature on the burden and management of FXIII CD. To this end, Medline, Embase and Cochrane databases were searched. In current literature, FXIII CD is described as one of the most severe forms of a congenital coagulation disorder, primarily due to a high risk of severe bleeding events. The published literature suggests that over 50% of untreated FXIII CD patients experience severe bleeding symptoms. Intracranial haemorrhage (ICH)--a major cause of death and morbidity--is reported to occur in up to one-third of patients. Nonetheless, data on the social and financial burden in patients with FXIII CD are sparse. Identified reports on the effectiveness and safety of recommended treatments support that patients with FXIII CD should receive prophylactic treatment as early as possible in their lives to prevent the occurrence of bleeds, including potentially life-threatening ICHs. In conclusion, limited data on the social and economic consequences related specifically to FXIII CD have been published to date. However, it is widely acknowledged that the high risk of severe bleeds and ICH results in a high level of burden in patients with bleeding disorders. To inform future clinical decision-making and reimbursement decisions, further research is required to gain insight in how specifically FXIII CD affects quality of life and to fully understand associated economic consequences.

Intracranial haemorrhage in children with inherited bleeding disorders in the UK 2003‐2015: A national cohort study

“…Our observations of ICH in children with severe FV, FVII, FX and FXIII deficiency are consistent with previous reports . While we were unable to calculate reliable incidence estimates for ICH in these disorders, previous case series suggest that the absolute risk of ICH in rare IBD may be individually high, particularly for severe FXIII deficiency.…”

Social/economic costs and health-related quality of life in patients with rare diseases in Europe

“…Reported figures suggest that in high-income countries belonging to the Organisation for Economic Co-operation and Development (OECD), the prevalence of haemophilia A is 14 per 100,000 males [20][21][22][23], while the yearly World Federation of Hemophilia (WFH) survey covering 106 countries, including all of Europe, estimated the prevalence of haemophilia A and B at 2.6 per 100,000 in the general population [21]. Cavazza et al [24] showed that the lowest average annual cost per patient with haemophilia was reported in Bulgaria (€6660) and the highest in Germany (€194,490).…”

Common skin and bleeding disorders that can potentially masquerade as child abuse

“…Infants with Factor XIII deficiency can present with umbilical stump bleeding and delayed separation of the umbilical cord. About one third of infants with the condition can also present with devastating intracranial hemorrhage, thus mimicking potential abusive head trauma [de Jager et al, 2014]. It is important to note that standard coagulation testing with prothrombin time, activated partial thromboplastin time, and platelet function tests are normal in congenital Factor XIII deficiency; therefore, specific Factor XIII assays must be utilized, and therefore suspected, in order to secure the diagnosis [Gordon et al, 2008].…”