Recurrent episodes of spontaneous subconjunctival hemorrhage in patients with factor XIII Val34Leu mutation.
OBJECTIVE
To report on the occurrence of frequent episodes of spontaneous subconjunctival hemorrhage (SCH) in patients with the Leu 34 allele of the coagulation factor XIII (FXIII), known to be associated with high hemorrhagic risk.


METHODS
Observational case series.


METHODS
Five young adults who had suffered from recurrent idiopathic SCH not associated with any recognized ocular and systemic hemorrhagic risk factor were investigated. Accurate anamnestic, ophthalmologic, hematologic, and serologic examinations were performed, together with blood pressure measurements, electrocardiogram (ECG), and 24-hour Holter ECG recordings. FXIII Val34Leu polymorphism was studied by DNA chain polymerase reaction.


RESULTS
DNA analyses showed that the hemorrhagic mutated Leu34 allele was present in four of our selected patients: two mutated homozygotes (Leu/Leu) and two heterozygotes (Val/Leu). In the last subject this polymorphism was not detected. All the other clinical evaluations did not disclose any significant abnormality.


CONCLUSIONS
The FXIII Val34Leu mutation may be associated with an increased risk for spontaneous episodes of SCH.
Incorvaia
Carlo
C
Department of Ophthalmology, University of Ferrara, Ferrara, Italy. sbd@dns.unife.it
Costagliola
Ciro
C
Parmeggiani
Francesco
F
Gemmati
Donato
D
Scapoli
Gian Luigi
GL
Sebastiani
Adolfo
A
D000328:Adult; D000483:Alleles; D001794:Blood Pressure; D003229:Conjunctival Diseases / Q000209:etiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D004562:Electrocardiography; D005130:Eye Hemorrhage / Q000209:etiology / Q000235:genetics*; D005176:Factor XIII / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D012008:Recurrence; D012307:Risk Factors
D005176:Factor XIII