Recurrent epiode of pontaneou ubconjunctival hemorrhage in patient with factor XIII Val34Leu mutation

Purpoe To report on the occurrence of frequent epiode of pontaneou ubconjunctival hemorrhage (CH) in patient with the Leu 34 allele of the coagulation factor XIII (FXIII), known to be aociated with high hemorrhagic rik. Deign Obervational cae erie. Method Five young adult who had uffered from recurrent idiopathic CH not aociated with any recognized ocular and ytemic hemorrhagic rik factor were invetigated. Accurate anamnetic, ophthalmologic, hematologic, and erologic examination were performed, together with blood preure meaurement, electrocardiogram (ECG), and 24-hour Holter ECG recording. FXIII Val34Leu polymorphim wa tudied by DNA chain polymerae reaction. Reult DNA analye howed that the hemorrhagic mutated Leu34 allele wa preent in four of our elected patient: two mutated homozygote (Leu/Leu) and two heterozygote (Val/Leu). In the lat ubject thi polymorphim wa not detected. All the other clinical evaluation did not dicloe any ignificant abnormality. Concluion The FXIII Val34Leu mutation may be aociated with an increaed rik for pontaneou epiode of CH