Hemophilia in the ED

Hemophilia

I think that we would all agree that “bleeding” as the chief complaint catches your attention in the Peds ED (or any ED for that matter).  We have previously covered Post-Tonsillectomy Hemorrhage, oropharyngeal traumaHemorrhagic Disease of the Newborn, ITP and the significance of Wet Purpura.  Now, let us look into one of the most common causes of bleeding in children, Hemophilia.

Hemophilia – Basics

  • Hemophilia A and B are Sex-Linked Recessive disorders.
  • Hemophilia A
    • Due to deficiency in Factor VIII.
    • Rate = 1 in every 5,000 – 10,000.
    • Severe cases account for 50 – 70% of Hemophilia A cases.
  • Hemophilia B
    • Due to deficiency in Factor IX.
    • Rate = 1 in every 30,000 – 50,000.
    • Mild cases account for 70% of Hemophilia B cases.
  • Despite advances in care, still poses multiple challenges:
    • Development and progression of joint disease
    • Development of Inhibitory antibodies against therapies
    • Life-threatening hemorrhage

 

Hemophilia – Severity

  • Severity of disease is related to the degree to which the factor is deficient.
  • Mild Hemophilia
    • Baseline factor level of 5 – 40%.
    • Bleeding only with severe injury, surgery, or invasive procedures.
    • Rarely have bleeds.
    • May not be diagnosed until later in life.
      • May actually require repeated laboratory testing to confirm some mild cases.

 

  • Moderate Hemophilia
    • Baseline factor level of 1 – 5%.
    • Bleed with slight injuries.
    • Do not usually have spontaneous bleeding, except for hemarthrosis.
    • Can bleed as often as once a month.

 

  • Severe Hemophilia 
    • Baseline factor level < 1%.
    • Have bleeding symptoms from early childhood.
      • Exaggerated bruising or palpable soft tissue swelling from trivia trauma.
      • Circumcision bleeding.
      • Nose and mouth bleeding.
      • Large hematoma from childhood vaccination.
      • Spontaneous hemarthrosis.
    • Spontaneous bleeding is characteristic!
    • May bleed multiple times per week.

 

Hemophilia – Super Bad Bleeds

Anytime someone is bleeding and has a coagulopathy, it can go badly, but there are some areas that are more problematic.

  • Head Trauma with potential evolving ICH.
    • Pts with hemophilia are 20 – 50 times more likely to develop ICH than are those without hemophilia.
  • Throat and neck hemorrhages with potential airway obstruction.
  • Intra-abdominal hemorrhage.
  • Bleeding in closed space with potential for compartment syndrome.
  • Post-traumatic and post-surgical bleeding.

 

Hemophilia – Treatments

  • The MAIN OBJECTIVE is to increase the circulating levels of the deficient factor as soon as possible!
    • Do NOT wait for any laboratory studies.
    • Do NOT wait to consult with the patient’s hematologist.
  • Factor replacement requires its own line… can’t be given in same line as other fluids.
  • Trust the parents!
    • If the family comes with specific factors to be given, use them!
    • Many time children will develop inhibitors to the Factor replacements and need other specific medications.
    • To avoid delay in therapy, best to utilize what the family brings.
  • Reserve further diagnostic testing (lab work or imaging) until after the factor has been given.  
    • Factor replacement trumps other priorities.
    • Arthrocentesis to remove blood from joints is NOT required! 
  • Normal clotting factor levels = 50 – 150 IU/dL (often reported as 50 – 150%).
  • Goal = Increase Factor level to 30-50% for minor/moderate bleeding, 80-100% for severe bleeding.
  • Some children with severe disease will be receiving home prophylactic treatment regimens.
  • Most others will require “on demand” therapy (that’s where you come into play).

Hemophilia A

  • Each Unit of Factor VIII per kg leads to a 2% rise in plasma Factor VIII.
  • Options
    • Desmopressin
      • Increases endogenous Factor VIII levels.
      • Used for pts with known baseline levels > 10%.
      • Used only for pts in whom it has been shown to work by the hematologist.
    • Purified Factor VIII concentrates (ex, HEMOFIL-M, RECOMBINATE)
      • Plasma-derived or Recombinant
      • Contain only Factor VIII
      • Dose
        • Minor Bleed – 25 IU/kg
        • Major Bleed – 50 IU/kg loading dose, followed by 25 IU/kg q 12 h or continuous infusion of 3 IU/kg/hr.
    • Intermediate Purity Factor VIII (ex, Humate)
      • Contain some VW Factor also.
      • Dose
        • Minor Bleed – 25 IU/kg
        • Major Bleed – 50 IU/kg loading dose, followed by 25 IU/kg q 12 h
    • Cryoprecipitate
      • Contains VW Factor and Factor VIII.
      • Only use if other options not available, as more difficult to achieve hemostasis.
      • Dose
        • 1bag per 6kg of body weight
    • Tranexamic Acid (TXA)
      • Antifibrinolytic used to help stabilize clot formation.
      • Has been used topically as well.
      • Dose
        • 10 mg/kg IV or 25 mg/kg PO q 6-8 hrs.

Hemophilia B

  • Each Unit of Factor IX per kg leads to a 1% rise in plasma Factor IX.
  • Options
    • Purified Factor IX concentrates
      • Plasma-derived (ex, AlphaNine SD)
        • Minor Bleeding – 40 IU/kg
        • Major Bleeding – 80 – 100 IU/kg load, then 50 IU/kg q 18-24 hrs
      • Recombinant (Ex, BeneFIX)
        • Minor Bleeding – 50 IU/kg
        • Major Bleeding – 100 – 130 IU/kg load, then 65 IU/kg q 18-24 hrs.
    • Fresh Frozen Plasma
      • Contains Factor IX
      • Only use if other options not available, as can lead to volume overload.
      • Dose
        • 15 mL/kg initially, check Factor IX level.
    • Tranexamic Acid (TXA)
      • Antifibrinolytic used to help stabilize clot formation.
      • Has been used topically as well.
      • Dose
        • 10 mg/kg IV or 25 mg/kg PO q 6-8 hrs.

 

Hemophilia – Undiagnosed? Who to Consider it in.

  • Not everyone will have had the diagnose made prior to presenting to you in the ED.
  • Consider it in:
    • Neonates with any bleeding issues
      • History of bleeding circumcision?
      • ICH… is that abuse or hemophilia?
      • Persistent bleeding from heel sticks / venipuncture?
    • Hemarthrosis
    • Oral mucous membrane bleeding
    • Soft tissue bleeding (large hematoma after vaccination?)

 

 

References

Rea CJ1, Foley JH, Bevan DH, Sørensen B. An in-vitro assessment of tranexamic acid as an adjunct to rFVIII or rFVIIa treatment in haemophilia A. Ann Hematol. 2014 Apr;93(4):683-92. PMID: 24193375. [PubMed] [Read by QxMD]

Noble S1, Chitnis J. Case report: use of topical tranexamic acid to stop localised bleeding. Emerg Med J. 2013 Jun;30(6):509-10. PMID: 22833592. [PubMed] [Read by QxMD]

Bansal D1, Oberoi S, Marwaha RK, Singhi SC. Approach to a child with bleeding in the emergency room. Indian J Pediatr. 2013 May;80(5):411-20. PMID: 23269640. [PubMed] [Read by QxMD]

Ragni MV. The old and new: PCCs, VIIa, and long-lasting clotting factors for hemophilia and other bleeding disorders. Hematology Am Soc Hematol Educ Program. 2013;2013:44-51. PMID: 24319161. [PubMed] [Read by QxMD]

Sharathkumar AA1, Carcao M. Clinical advances in hemophilia management. Pediatr Blood Cancer. 2011 Dec 1;57(6):910-20. PMID: 21755590. [PubMed] [Read by QxMD]

Giordano P1, Franchini M, Lassandro G, Faienza MF, Valente R, Molinari AC. Issues in pediatric haemophilia care. Ital J Pediatr. 2013 Apr 20;39:24. PMID: 23601343. [PubMed] [Read by QxMD]

Singleton T1, Kruse-Jarres R, Leissinger C. Emergency department care for patients with hemophilia and von Willebrand disease. J Emerg Med. 2010 Aug;39(2):158-65. PMID: 18757163. [PubMed] [Read by QxMD]

Kulkarni R1, Soucie JM. Pediatric hemophilia: a review. Semin Thromb Hemost. 2011 Oct;37(7):737-44. PMID: 22187396. [PubMed] [Read by QxMD]

Hvas AM1, Sørensen HT, Norengaard L, Christiansen K, Ingerslev J, Sørensen B. Tranexamic acid combined with recombinant factor VIII increases clot resistance to accelerated fibrinolysis in severe hemophilia A. J Thromb Haemost. 2007 Dec;5(12):2408-14. PMID: 18034766. [PubMed] [Read by QxMD]

Sean Fox

I enjoy taking care of patients and I finding it endlessly rewarding to help train others to do the same. I trained at the Combined Emergency Medicine and Pediatrics residency program at University of Maryland, where I had the tremendous fortune of learning from world renown educators and clinicians. Now I have the unbelievable honor of working with an unbelievably gifted group of practitioners at Carolinas Medical Center. I strive every day to inspire my residents as much as they inspire me.

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