title: Outcome in moderate haemophilia.
abstract: BACKGROUND
  Moderate haemophilia is the rarest form of haemophilia. This study aims to assess short- and long-term outcome, including its association with treatment, in patients with moderate haemophilia.
  
  
  METHODS
  Seventy-five patients with moderate haemophilia (1-5% factor VIII/ factor IX activity), without a history of inhibitors, treated at the van Creveldkliniek, Utrecht (NL) were included in the study. Life-long data on bleeding and treatment were collected. Joints were evaluated using the Haemophilia Joint Health Score. Adults completed questionnaires on activity (HAL) and quality of life (SF-36, EQ5D).
  
  
  RESULTS
  The median age of the patients was 37 years (IQR 23-52 years) and haemophilia A was diagnosed in 89%. Bleeding frequency was low: the median annual bleeding rate was 2.0 bleeds/ year (IQR 0.8-3.7 bleeds/year), including a median of 0 joint bleeds/year (IQR 0.8-3.7 bleeds/year). Joint function was good: 82% scored<10 out of 126 points of the Haemophilia Joint Health Score (HJHS). Nevertheless, 29% of patients with moderate haemophilia had a history of prophylaxis, because of a high bleeding frequency. Median age at first joint bleed was 4.8 years (IQR 3.5-8.5). Use of prophylaxis was more associated with age at first joint bleed (P<0.01) than with baseline factor activity (P=0.12). Most patients (52%) who suffered their first joint bleed before the age of 5 years required prophylaxis later in life.
  
  
  CONCLUSIONS
  The majority of patients with moderate haemophilia have few bleeds and complications; however, a considerable subset of patients with a more severe bleeding pattern need prophylactic treatment. These latter patients may be identified by the onset of joint bleeding before the age of 5 years.
authors.affiliation: van Creveldkliniek, Department of Haematology, Medical University Centre Utrecht, Utrecht, The Netherlands Julius Center for Health Sciences and Primary Care, Medical University Centre Utrecht, Utrecht, The Netherlands.
authors.forename: Ingrid
authors.initials: I
authors.lastname: den Uijl
authors.affiliation: Department of Haematology, Medical University Centre Utrecht, Utrecht, The Netherlands.
authors.forename: Douwe
authors.initials: D
authors.lastname: Biesma
authors.affiliation: Julius Center for Health Sciences and Primary Care, Medical University Centre Utrecht, Utrecht, The Netherlands.
authors.forename: Diederick
authors.initials: D
authors.lastname: Grobbee
authors.affiliation: van Creveldkliniek, Department of Haematology, Medical University Centre Utrecht, Utrecht, The Netherlands Julius Center for Health Sciences and Primary Care, Medical University Centre Utrecht, Utrecht, The Netherlands.
authors.forename: Kathelijn
authors.initials: K
authors.lastname: Fischer
mesh_terms: D000328:Adult; D017668:Age of Onset; D005164:Factor IX / Q000032:analysis / Q000627:therapeutic use; D005169:Factor VIII / Q000032:analysis / Q000627:therapeutic use; D006395:Hemarthrosis / Q000453:epidemiology / Q000209:etiology* / Q000517:prevention & control / Q000601:surgery; D006467:Hemophilia A / Q000097:blood / Q000150:complications / Q000628:therapy*; D006470:Hemorrhage / Q000453:epidemiology / Q000209:etiology / Q000517:prevention & control; D006801:Humans; D007398:Interpersonal Relations; D008297:Male; D008875:Middle Aged; D009043:Motor Activity; D011788:Quality of Life; D012720:Severity of Illness Index; D011795:Surveys and Questionnaires; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D005169:Factor VIII; D005164:Factor IX