Factor XIII deficiency related recurrent spontaneous intracerebral hemorrhage: A case and literature review

Spontaneous intracerebral hemorrhage (ICH) in young adults under 50 years of age is an uncommon occurrence associated with considerable morbidity and mortality. The differential diagnosis of ICH in this population differs from that of older individuals and includes vascular, toxic, inflammatory, oncologic, infectious and hematologic conditions. We present a case based observation of a spontaneous and recurrent ICH in a 25-year-old female secondary to undetected Factor XIII (FXIII) deficiency with no prior associated stigmata of hematologic disturbance admitted to a tertiary care neuroscience intensive care unit (NICU). Our patient was admitted after spontaneous development of left thalamic hemorrhage with ventricular extension. Initial management included external drain placement (EVD) and fresh frozen plasma administration. Diagnostic evaluation was unrevealing including CT angiography, magnetic resonance imaging (MRI) with venography, conventional cerebral angiogram, and hematologic and rheumatologic screens. Our patient recovered but represented 6 months later with five foci of spontaneous ICH. She underwent vascular, infectious, oncologic, hematologic, and rheumatologic evaluations. She expired secondary to ICH expansion with uncal herniation. The results of our investigation revealed markedly diminished FXIII activity. The pathophysiology, diagnosis and treatment of this disease are reviewed. FXIII deficiency should be considered in a case of cryptogenic ICH presenting with multifocal, recurrent ICH and a normal coagulation profile. Early diagnosis and initiation of factor replacement therapy offer the best strategies to reduce the morbidities associated with this disease.