title: Prevalence of bleeding manifestations in 128 heterozygotes for Factor X deficiency, mainly for FX Friuli, matched versus 128 unaffected family members, during a long sequential observation period (23.5 years).
abstract: OBJECTIVE
  The main objective of the study was to evaluate the incidence of bleeding manifestations in heterozygotes for FX deficiency vs. unaffected family members. Secondary objective was to compare the prevalence of arterial or venous diseases found in the two groups.
  
  
  METHODS
  A total of 128 heterozygote patients for FX deficiency were investigated. A total of 102 patients had FX Friuli; 26 patients had other forms of FX deficiency. At time of diagnosis, each patient was paired with an unaffected family member, matched by gender and age (±5). Patients and their normal counterparts were checked every 1-2 yr for a mean period of 23.5 yr. The occurrence of bleeding manifestations was recorded and scored. The occurrence of arterial diseases and venous thrombosis was also recorded as a secondary finding.
  
  
  RESULTS
  A total of 38 heterozygote patients (29.7%) had one or more than one bleeding manifestation. The most frequent one was bleeding after tooth extraction or surgery. On the contrary, only three control subjects (2.3%) had documented hemorrhagic symptoms. There was a good correlation between bleeding and FX levels. Arterial disease (acute coronary syndromes, ischemic stroke, stable angina, peripheral arteries disease) was found in eight patients (6.3%) with FX deficiency and in seven unaffected subjects (5.5%). On the contrary, no venous thrombosis was seen in the affected group, whereas three cases (2.3%) of documented venous thrombosis were observed in the control group (two deep veins and one superficial vein).
  
  
  CONCLUSIONS
  Heterozygotes FX deficiency may be accompanied by a mild bleeding tendency. This has important implications to assure a safe FX level in case of surgery or invasive procedures. Furthermore, mild FX deficiency seems to have no protective effect on arterial disease but does seem to protect from venous thrombosis.
authors.affiliation: Department of Medicine, University of Padua Medical School, Padua, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Girolami
authors.affiliation: Department of Medicine, University of Padua Medical School, Padua, Italy.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Cosi
authors.affiliation: Department of Medicine, University of Padua Medical School, Padua, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Santarossa
authors.affiliation: Department of Medicine, University of Padua Medical School, Padua, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Ferrari
authors.affiliation: Division of Medicine, Padua City Hospital, Padua, Italy.
authors.forename: Bruno
authors.initials: B
authors.lastname: Girolami
authors.affiliation: Department of Medicine, University of Padua Medical School, Padua, Italy.
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Lombardi
mesh_terms: D005170:Factor X / Q000235:genetics*; D005171:Factor X Deficiency / Q000150:complications / Q000453:epidemiology* / Q000235:genetics* / Q000266:history; D005260:Female; D005500:Follow-Up Studies; D006470:Hemorrhage / Q000175:diagnosis / Q000453:epidemiology* / Q000209:etiology; D006579:Heterozygote; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D008297:Male; D009154:Mutation; D015995:Prevalence
chemical_list: C071676:factor X Friuli; D005170:Factor X
keywords: FX deficiency; atherosclerosis; bleeding; heterozygotes; venous thrombosis