title: Recurrent episodes of spontaneous subconjunctival hemorrhage in patients with factor XIII Val34Leu mutation.
abstract: 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.
authors.affiliation: Department of Ophthalmology, University of Ferrara, Ferrara, Italy. sbd@dns.unife.it
authors.forename: Carlo
authors.initials: C
authors.lastname: Incorvaia
authors.forename: Ciro
authors.initials: C
authors.lastname: Costagliola
authors.forename: Francesco
authors.initials: F
authors.lastname: Parmeggiani
authors.forename: Donato
authors.initials: D
authors.lastname: Gemmati
authors.forename: Gian Luigi
authors.initials: GL
authors.lastname: Scapoli
authors.forename: Adolfo
authors.initials: A
authors.lastname: Sebastiani
mesh_terms: 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
chemical_list: D005176:Factor XIII