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World Federation of Hemophilia

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					       Factor XIII
      Case Studies
          Mary Edgar
 Haemophilia Nurse Specialist
Bristol Haemophilia Centre, UK
       Factor XIII Deficiency
• Last enzyme to be activated in clotting
  process
• Clots formed but not stabilised
• Autosomal recessive inheritance
• Very rare 1:1-3 million people
• More prevalent in countries where
  consanguineous marriages are common
THE GLOBAL DISTRIBUTION OF
    The global distribution of consanguineous marriage
CONSANGUINEOUS MARRIAGE
       Clinical Manifestations
• Severe bleeding tendency
• Soft tissue bleeding; umbilical cord and
  CNS
• Mucosal bleeding
• Miscarriages
• Delayed bleeding after trauma
J Thromb
Haem
2004
    Bristol Haemophilia Centre
• Cohort of 5 patients (44 in UK)
• Patient care provided by multidisciplinary
  team
• Laboratory FXIII assays record levels as
  < or > 2% and < or > 10%
• No data available to inform best practice
             Case Study 1
• Married woman aged 53
• No family history
• History of profuse umbilical cord and post
  tonsillectomy bleeding
• Diagnosed aged 11
• Miscarriages and 2 stillbirths
• 2 daughters not affected
      Clinical Presentation and
            Management
• 1987 Intracerebral bleed (aged 34 years)
• L sided weakness, parasthesia and
  epilepsy
• Commenced 2 weekly FFP prophylaxis
• 1988 CNS rebleed (had FFP week before)
• Physiotherapy
• July 1988 Commenced 4 weekly factor XIII
  prophylaxis
FACTOR XIII
CONCENTRATE
•Plasma derived
•Virally inactivated

•Dose 10 U/Kg

•Half life 7- 10 days

•Re-treat when clot
lysis assay shows FXIII
activity <10%
        Current Condition and
            Management
• Small residual hemiplegia/dysarthria but
  no epilepsy
• Prone to tiredness and migraines
• Otherwise well
• Reviewed and monitored 6 monthly
• FXIII dose adjusted as necessary
• Stable on FXIII prophylaxis for 17 years
• FXIII given by family doctor
             Case Study 2
• 22 year old girl. 3 brothers, 2 sisters
• 1 brother and 1 sister also affected
• Diagnosed soon after birth with umbilical
  stump bleeding
• 1st patient in UK to be treated with FXIII
  concentrate
• Commenced monthly FXIII prophylaxis
   Challenge Faced by Centre
• Age 19 years became pregnant
• Thought she “couldn’t get pregnant”
  because FXIII deficiency associated with
  poor implantation!
• Transferred to Adult Centre
• On 4 weekly FXIII prophylaxis 750iu
• No data available re pharmacokinetics and
  pregnancy
        Prophylaxis Regime
• FXIII levels monitored weekly
• Aim to keep FXIII above 10%
• At 20 weeks – FXIII increased to 1000iu
  every 4 weeks
• At 24 weeks – FXIII increased to 1000iu
  every 3 weeks
   Maternal Management Plan
• Anticipate vaginal delivery
• Use Fentanyl PCA if Entonox not enough
• Avoid epidural analgesia and forceps
  delivery
• Caesarian section if necessary
• To be given bolus infusion FXIII if no
  prophylaxis in previous 5 days
               Outcome!
• February 04 - normal delivery 2 weeks
  before EDD
• Healthy baby boy – not affected
• No post partum bleeding
• October 05 – FXIII prophylaxis increased
  to 1250iu 4 weekly because of weight gain
• Now self- treating at home
             Case Study 3
• 7 year old boy
• 23rd March 05
  Fell onto back while playing on patio
• 27th March 05
  Difficulty walking/passing urine
• Poor bowel control
• Evidence of UTI
• Prescribed oral antibiotics by family doctor
             28th March 2005
•   Assessed at District Hospital
•   Urinary retention
•   Neurological signs in legs
•   Transferred to specialist neurology unit
•   ? Non accidental injury
•   Referred to Social Services
•   Urgent MRI scan
       Clinical Management
• Extradural haematoma found
• 1st April 2005
  Surgical drainage of extradural
  haematoma
• 4th April 2005
  Surgical exploration because re-
  accumulation of haematoma
• 6th April 2005
  Second surgical exploration
          3 Weeks Post Injury
•   Faecal and urinary incontinence
•   Catheterisation
•   Supra-pubic catheter inserted
•   Abnormal wound bleeding noted
•   Referred to Haematologist
•   FXIII assay performed
    Haemostasis Assessment and
          Management
• FXIII < 2%
• No family history
• Easy bruising
• 18th April 2005 (26 days post injury)
  First infusion Factor XIII 750 iu given
• 4 weekly FXIII prophylaxis regime
  commenced
             1 Year Later
• Monthly FXIII prophylaxis 750iu
• Regular haemophilia/neurology review
• Self-catheterises daily
• Uses laxatives and suppositories to control
  faecal incontinence
• “Walks on toes” when he is tired
• Condition stable
• Coming to terms with diagnosis
       What have we learnt?
• Importance of early diagnosis, monitoring
  and regular review
• Importance of FXIII prophylaxis to prevent
  bleeding
• Need for data and research to inform best
  practice
• Need to share experience and expertise