PB0574 - Congenital Factor XIII deficiency: A disease not to be forgotten - Real world experience from Malaysia

Background: Factor XIII deficiency is a rare autosomal recessive coagulation disorder, which often leads to defective cross-linking of fibrin, manifesting in delayed haemorrhage.

Aims: We report five cases of FXIII deficiency, summarizing the clinical spectrum and treatment types.

Methods: This was a case-series of five patients diagnosed with FXIII deficiency in Malaysia. Demographic and clinical data were collected from electronic medical records. Quantitative determination of FXIII antigen was tested by latex enhanced immunoassay on ACL TOP automated analyzer using a commercial reagent kit(FXIII Antigen, Hemosil).

Results: Five patients were identified - four males and one female(Table1). All were diagnosed during first few years of life with FXIII level ranging from < 1% to 1.3%. One had no family history, whereas the others had family members who succumbed to intracranial bleeds. The common bleeding phenotypes included intracranial, umbilical stump, muscle/joint and delayed bleeding from a wound. The only female patient had antepartum haemorrhage during her first, twin pregnancy. She was commenced on FXIII concentrate 20IU/kg every 3 weeks from second trimester and the dose was increased to 20IU/kg fortnightly from 32 weeks gestation until delivery. This prophylactic regimen was able to keep the trough level at 4.3-8.49%. She received one dose of intravenous iron to correct iron deficiency. She had an uneventful spontaneous vertex delivery with no post-partum haemorrhage. Both babies had no bleeding manifestation and achieved appropriate developmental milestones. Prior to the advent of FXIII concentrate, most patients were given cryoprecipitate or plasma with some breakthrough bleeds. All five patients achieved zero bleeding events after commencement of FXIII concentrate prophylaxis. No thromboembolic events were reported.

Conclusion(s): FXIII deficiency is often underdiagnosed, possibly due to lack of awareness. Heightened clinical suspicion is crucial in cases with significant bleeding history despite normal standard coagulation assays. Targeted genetic analysis may be helpful in some scenarios.