Researchers Look at Clinical Outcomes in FXIII Babies

Individuals with factor XIII deficiency (FXIII), a very rare inherited bleeding disorder, may experience a number of symptoms including umbilical cord bleeding, bruising, nose and mouth bleeds, plus heavy menstrual bleeding and repeat miscarriages in affected females. Spontaneous hemorrhaging in the brain, one of the most life-threatening of bleeding complications, occurs in approximately 30% of FXIII patients.

Neonates (infants less than four weeks old) with FXIII are susceptible to brain and other bleeds during the delivery process. Researchers in Iran, a country which experiences disproportionately higher rates of FXIII cases when compared to most other nations, sought to understand the risk factors and clinical features of these patients in the hopes of forestalling serious bleeding complications in the future. The lead author of this study was Majid Naderi, MD, Department of Pediatrics Hematology & Oncology, Ali Ebn-e Abitaleb Hospital Research Center For Children and Adolescents Health, Zahedan University of Medical Sciences in Zahedan, Iran.

Naderi and his colleagues performed a retrospective, cross-sectional analysis of 27 neonatal patients who had experienced bleeding events and who had been diagnosed specifically with FXIII A-subunit (FXIII cases are designated either subunit A or subunit B.) Most FXIII cases are associated with a causal mutation in subunit A. Investigators looked at patient data, demographic information, family history, method of birth delivery, clinical data, and imaging history. All patients received treatment with FXIII concentrate upon first bleeding event, followed by FXIII prophylaxis.

All 27 patients experienced umbilical cord bleeding. Clinical evidence of central nervous system (CNS) bleeding was found in nearly half of the patients (13, 48.1%). Both seizure and delayed umbilical stump separation occurred in five patients (18.5%). Three patients experienced hematoma, and one had ecchymosis, a skin discoloration caused by ruptured blood vessels that cause blood to escape into tissue.

Their analysis also indicated that 19 of these patients (70.3%) had a family history of “suspicious” FXIII deficiency-related deaths and that all 27 patients had the same specific FXIII-related mutation.

Investigators also reported that a history of CNS bleeding was not significantly associated with clinical presentation, familial FXIII deficiency history, birth delivery method, gender, or age. CNS bleeding did however show a slightly significant relationship with the mean number of suspicious deaths related to FXIII deficiency in a patient’s family history.

Naderi and his fellow investigators conclude by recommending that prenatal diagnostic screening should be conducted in any cases where there is a positive family history of factor XIII deficiency and that prophylaxis with a FXIII product be employed to prevent bleeding complications in affected neonates.

The study, “A Retrospective Study on Clinical Manifestations of Neonates with FXIII-A Deficiency,” was published in the journal Blood Cells, Molecules, and Diseases.

Source: Hematology Advisor, May 2, 2019

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