Bleeding diathesis recognition evaluation treatment of hemophilia von willebrand disease
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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.

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

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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!


Who bleeding scale

WHO Bleeding Scale


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


Coagulation screening in children

Coagulation screening in Children


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%

      • Moderate1 – 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?


    Bleeding diathesis recognition evaluation treatment of hemophilia von willebrand disease

    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


    Bleeding diathesis recognition evaluation treatment of hemophilia von willebrand disease

    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 disease2

    von Willebrand Disease


    Von willebrand disease3

    von Willebrand Disease


    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?


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