Hemophilia

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  • Hemophilia A
    • Sex-linked recessive disease (MCQ)
    • a deficiency of factor VIII
    • Signs and symptoms
      • Dependent on amount of active factor:
        • 5 to 25% normal factor VIII activity (mild): (MCQ)
          • Abnormal bleeding when subjected to surgery or dental procedures
      • 2 to 5% (moderate) (MCQ)
      • < 2% (severe) normal VIII activity: (MCQ)
          • Deep tissue bleeding
          • intra-articular hemorrhages (usually knees)
          • nerve impingement
          • intracranial bleeding (following trauma)
    • Diagnosis
      • Prolonged aPPT, normal bleeding time(MCQ)
      • Assess Factor VIII coagulant activity level
    • Treatment
      • Cryoprecipitate
      • Recombinant factor VIII(MCQ)
      • DDAVP (desmopressin) for patients with mild hemophilia A

Hemophilia B (christmas disease)

      • Pathophysiology
        • X-linked recessive disease (MCQ)
        • causes a deficiency of factor IX
        • Factor IX assay
      • Treatment
        • Fresh frozen plasma (FFP) (MCQ)
        • Recombinant factor IX
  • Clinical Pearls :
      • FFP – Can be used for both vWD, hemophilias
      • Unlike in vWD, bleeding time in hemophilia A is unaffected because no abnormality with platelets is present. (MCQ)

2

      • DDAVP dose
        • 0.3 mcg/kg IV in 50 mL saline over 20 minutes
        • nasal spray 300 mcg for weight > 50 kg
        • 150 mcg for < 50 kg
        • given every 12–24 hours(MCQ)
        • maximum of three doses in a 48-hour period.
        • If more than two doses are used in a 12–24 hour period, free water restriction and/or monitoring for hyponatremia is essential. (MCQ)
      • EACA useful for mucosal bleeding/dental procedures.
      • Factor VIII concentrate
        • dose is 50 units/kg IV initially followed by 25 units/kg every 8 hours followed by lesser doses at longer intervals. (MCQ)
      • Factor IX concentrate
        • dose is 100 units/kg IV initially followed by 50 units/kg  every 8 hours (MCQ)
        • vWF-containing factor VIII concentrate dose is 60–80 RCoF units/kg IV every 12 hours initially followed by lesser doses at longer intervals once hemostasis has been established.
      • FFP
        • typically administered in 4-unit boluses and may not need to be re-bolused after the initial administration due to the long half-life of factor XI.
      • The cyclooxygenase (COX)-2 selective nonsteroidal anti-inflammatory drug celecoxib may be used to treat arthritis symptoms(MCQ)
      • generally, other NSAIDs and aspirin should be avoided due to the increased risk of bleeding from inhibition of platelet function. (MCQ)


Hemophilia Presentation
Hemophilia The Royal Disease
USMLE Tutorial – Hemophilia A vs B
A look at the important differences between Hemophilias A and B. Download your FREE Step 1 BIBL
A computer-generated movie on hemophilia ou l’hémophilie en images de synthèse.mpg
Visualising the coagulation process and hemophilia, a unique and valuable educational tool for patients and health care professionals
AnaKaren What Is Hemophilia
My Life With Hemophilia: Brandston
This is a video portrait of a 5-year-old boy named Brandston. He has severe hemophilia A with inhibitors and receives infusions at least every other day. This is just a glimpse of what life is like for him.
The Joe Journals – 30 – Being A Hemophiliac & Injecting
The life of a hemophiliac isn’t all that bad, if you take your medicine as your supposed to, you won’t have any issues. This is my vlog in honor of March Hemophilia Awareness Month.