Bleeding diathesis recognition evaluation treatment of hemophilia von willebrand disease
Download
1 / 40

Bleeding Diathesis: Recognition, Evaluation Treatment of Hemophilia von Willebrand Disease - PowerPoint PPT Presentation


  • 229 Views
  • Uploaded on

Bleeding Diathesis: Recognition, Evaluation & Treatment of Hemophilia & von Willebrand Disease . Renee Marlette APRN, FNP-BC Hemophilia Treatment Center Hematology/Oncology Primary Children’s Medical Center.

loader
I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
capcha
Download Presentation

PowerPoint Slideshow about 'Bleeding Diathesis: Recognition, Evaluation Treatment of Hemophilia von Willebrand Disease' - alia


An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript
Bleeding diathesis recognition evaluation treatment of hemophilia von willebrand disease

Bleeding Diathesis: Recognition, Evaluation & Treatment of Hemophilia & von Willebrand Disease

Renee Marlette APRN, FNP-BC

Hemophilia Treatment Center

Hematology/Oncology

Primary Children’s Medical Center


Bleeding diathesis recognition evaluation treatment of hemophilia von willebrand disease1
Bleeding Diathesis: Recognition, Evaluation & Treatment of Hemophilia & von Willebrand Disease

  • Identify red flags indicative of a bleeding diathesis in pediatric patients

  • Identify critical components of history, physical examination and laboratory studies

  • Pearls on recognition & management of Hemophilia

  • Pearls on recognition & management of von Willebrand Disease


Hemophilia treatment center primary children s medical center hematology oncology
Hemophilia Treatment CenterPrimary Children’s Medical Center Hematology/Oncology


Red flags history
Red Flags: History*

  • Ecchymosis?

  • Soft tissue hematoma?

  • Joint hemorrhages?

  • Delayed bleeding?

  • Bleeding from superficial skin abrasions?

  • Bleeding from tooth extraction/T&A/surgery?

  • Menorrhagia? (define)

  • Male or Female?

  • Medications? (NSAIDS, ASA, herbals)

    *Not all bleeding episodes suggest a bleeding disorder!



Red flags family history
Red Flags: Family History

  • X-linked recessive inheritance?

    • Male siblings and maternal uncles/grandfather

    • Hemophilia

  • Autosomal dominant inheritance?

    • Mother or father may transmit

    • Mucocutaneous symptoms

    • vWD,

  • Autosomal recessive & Negative inheritance

    • 30% of Hemophilia de novo


Red flags physical exam
Red Flags: Physical Exam

  • Is this bruising within normal limits?

    • Indurations

    • Placement

  • Petechiae

  • Wet purpura

  • Epistaxis

  • Hemarthrosis vs. soft tissue bleeds

  • Hyperflexibility of small joints and skin tissue laxity


Differentiation of symptoms
Differentiation of Symptoms

  • Common to all

    • Differentiating “easy/prolonged” bleeding

  • Mucocutaneous Symptoms

    • Excessive bruising- indurations

    • Excessive initial bleeding

    • Petechiae

    • Oral, nasal mucosa

    • Genital tract (menorrhagia)

  • Hemarthrosis

    • Excessive bruising

    • Excessive continued bleeding

    • PAIN with compression

    • Differentiate from soft tissue bleeding



Laboratory diagnostic studies
Laboratory & Diagnostic Studies

  • Level I

    • CBC (Hgb/Hct/MCV/MCH/RBC/Plt)

    • PT

    • PTT

  • Level 1.5

    • vWP, TSH

    • PFA-100

    • Fibrinogen (TT)

  • Level II

    • vWP with multimers, ABO

    • PT mixing study factor VII

    • PTT mixing study factors IX, X (XI, others)

    • PT & PTT prolonged factors II, V, X

    • DRVVT /Lupus anticoagulants

    • TT with RT


  • Coagulation cascade
    Coagulation Cascade


    Hemophilia diagnosis
    Hemophilia- Diagnosis

    • X-linked genetic disorder

    • Factor Deficiency

      • Prolonged PTT

      • CORRECTS with 1:1 mixing study

      • Bleeding symptoms

    • Prevalence

      • 1 in 5,000 male births

      • Estimated in US 20,000


    Hemophilia definitions
    Hemophilia- Definitions

    • Factor Deficiency

      • Hemophilia A: FVIII

      • Hemophilia B: FIX

      • Hemophilia C: FXI

    • Severity

      • Mild > 5% - 50%

      • Moderate 1 – 5%

      • Severe < 1%


    Hemophilia presentations
    Hemophilia – Presentations

    • X-linked Family History

      • 30% new mutations

    • Symptoms

      • Bruising/bleeding

      • *Hemarthrosis (joint) – *Hallmark

      • Soft tissue/deep muscle

      • Nose/mouth, other bleeds


    Hemophilia presentations1
    Hemophilia – Presentations

    • Severity of clinical bleeding symptoms

      • Genetics

      • Hemophilia A vs. Hemophilia B

    • Female:

      • Symptomatic carriers d/t Lionization

      • Expression of one of the X chromosomes is randomly suppressed


    Hemophilia presentations2
    Hemophilia – Presentations

    • 5 major emergent bleeds:

      • Head

      • Eye

      • Neck/Throat

      • Abdominal/Stomach

      • Kidney/Bladder


    Hemophilia tx with factor
    Hemophilia- Tx with FACTOR

    • Factor Replacement

      • Percent correction

        • 50% correction

        • 100% correction

      • Products based on purity

        • Whole-molecule

        • Recombinant

      • Dosing

        • Factor VIII: 1 mg/kg  2% increase

        • Factor IX: 1 mg/kg  1% increase


    Hemophilia treatment
    Hemophilia- Treatment

    • Treatment Options

      • RICE – rest, ice, compression, elevation

      • Factor replacement

    • Prophylaxis

      • For Severe (<1% factor) patients

      • Prior to aggressive activities

    • DDAVP (Stimate)

      • Mild Hemophilia A

    • Topical Measures

    • Antifibrinolytics: Amicar, Lysteda


    Hemophilia clinical situations
    Hemophilia – Clinical Situations

    • Newborn Protocol

      • Cord blood for PTT, factor level if +FHx

      • Factor only if bleeding

      • DELAY circumcision for 1 year

      • Yes Vit K, Hep B SQ

    • Immunizations

      • SQ injections, pressure 10 min, ice (not direct) 10 min, call if swelling

    • Dental procedure

      • Ab coverage (ports)

      • +/- factor

      • +/- antifibrinolytic

    • Surgery /Trauma

      • IHTC consultation – notify early


    Hemophilia
    Hemophilia

    • INHIBITORS

      • Development of autoimmune response with antibody development

      • 30% of Hemophilia A patients lifetime

      • Level

        • Low-level <5 BU

        • High/responder >5 BU

      • Treat with bypassing agent for bleeding

      • ITT – Immune Tolerance Therapy


    Hemophilia1
    Hemophilia

    • OUTCOMES

      • Improved morbidity and mortality when connected with IHTC

      • Role of PCP/specialty groups

    • FUTURE THERAPIES

      • Long-Acting Factors

        • Factor IX

        • Factor VIII

      • Gene Therapy

        • Europe, factor IX

      • Factor purity


    V on willebrand disease
    von Willebrand Disease

    • Inherited bleeding disorder

      • Genetic mutation

    • Dysfunction of or deficiency of von Willebrand factor (vWF)

      • Platelet adhesion

      • Binds and stabilizes FVIII

    • Most common genetic bleeding disorder

      • 1:10,000 or 1:1000?


    From The Diagnosis, Evaluation, and Management of von Willebrand Disease, US Dept of HHS 2007


    Bleeding score modified vicenza score
    Bleeding Score: Modified Vicenza Score


    Bleeding score modified vicenza score1
    Bleeding Score:Modified Vicenza Score

    • Total all 3 columns

      • BS >3 in males or >5 in females was 98.6% specific for vWD

      • BS can be as predictive or superior to vWF level if the bleeding is after tooth extraction or surgery

      • In pediatrics, a mean BS is 0.5, normal range: 1.5 to 2.5

      • Children with known vWD: median BS: 7


    From The Diagnosis, Evaluation, and Management of von Willebrand Disease, US Dept of HHS 2007


    Von willebrand disease
    von Willebrand Disease

    • vWP testing –do the panel!

      • Factor VIII

      • vWAg

        • Actual protein

      • vWF (Ristocetin Cofactor /RCo)

        • Effectiveness of the von Willebrand protein

      • Look at ratio of vWF (RCo): vWAg

        • > 0.7 in Type 1

      • Multimeric analysis


    Von willebrand disease1
    von Willebrand Disease

    • von Willebrand multimers help determine the subtype




    Von willebrand disease4
    von Willebrand Disease

    • Pearls on testing…

      • Do not treat until confirmed laboratory diagnosis of type and severity (unless emergency)

      • DDAVP-responsiveness should be tested while non-bleeding

      • vWF lowest first 1-3 daysof menstrual cycle

      • vWF stress-reactant protein

        • may need to retest

        • other platelet disorder?

      • Can you test on OCPs?


    Von willebrand disease tx options
    von Willebrand Disease- Tx Options

    • Avoid NSAIDs and other platelet –inhibiting drugs

    • Hormonal Therapy –pair with OB

      • OCP – monophasic, active pills to allow menses 1-2x/year

      • Depo shot, NuvaRing

      • Levonorgestrel intrauterine system

    • DDAVP(Stimate)

      • Concentration 150mcg/spray

      • Precautions: frequency, storage, dose, fluid restriction

    • Adjuvant Therapies: Antifibrinolytics

      • Aminocaproic acid (Amicar)

      • Tranexamic acid (Lysteda)

    • von Willebrand FACTOR

      • Humate P, Alphanate, Koate DVI


    Fibrinolysis cascade
    Fibrinolysis Cascade

    Aminocaproic Acid (Amicar)

    Tranexamic Acid (Lysteda)


    Von willebrand disease tx pearls
    von Willebrand Disease – Tx Pearls

    • Goal is cessation of bleeding (prophylaxis for surgical procedures)

      • no long-term prophylaxis

    • Immunization Hep A and B

    • Genetic counseling

    • Oral surgery:

      • Antifibrinolytics, DDAVP, topical agents (fibrin sealant, topical thrombin), surgical hemostatic measures

    • All major surgeries should be Tx in hospitals with monitoring and hematology

      • Do not exceed vWF: RCo > 200 IU/dL, factor VIII >250%

    • CALL FOR CONSULTATION - IHTC


    Von willebrand disease5
    Von Willebrand Disease

    • Menorrhagia

      • Menorrhagia or abnormal vaginal bleeding- full gynecological eval before therapy (grade C, level IV)

      • Adolescent or adult not desiring pregnancy

        • OCPs should be first choice

        • Levonorgestrel intrauterine system

      • Desire pregnancy

        • DDAVP, antifibrinolytics, vWF concentrate

      • D&C is not usually effective in managing excessive uterine bleeding for women with vWD

    • Labor & Delivery

      • Plan with hematologist prior to pregnancy, high risk

      • If vWF:RCo levels & FVIII >50 may consider regional anesthesia

      • Delivery and post-partum support


    Von willebrand disease6
    Von Willebrand Disease

    • OUTCOMES

      • Depending on management

    • FUTURE THERAPIES

      • Long-Acting von Willebrand Factor

      • Gene therapy – potentially for vWD type 3

        • low prevalence, not likely to be high priority


    Summary case studies
    Summary - Case Studies

    • 13 month old male infant who is starting to walk and presents with a painful swollen joint after falling down one step…

    • 12 year-old girl with excessive menstrual bleeding from menarche, recurrent nosebleeds, and pallor…

    • 5 year-old girl child who is not clinically ill but presents with moderate Mucocutaneous purpura with a recent viral infection…


    Bleeding diathesis recognition evaluation treatment of hemophilia von willebrand disease2
    Bleeding Diathesis: Recognition, Evaluation & Treatment of Hemophilia & von Willebrand Disease

    • Identify red flags indicative of a bleeding diathesis in pediatric patients

    • Identify critical components of history, physical examination and laboratory studies

    • Recognition & Management of Hemophilia

    • Recognition & Management of von Willebrand Disease

    THANK YOU!...Questions?


    ad